Type IV Collagens and Basement Membrane Diseases: Cell Biology and Pathogenic Mechanisms

Current Topics in Membranes

Volumn 76, Issue , 2015, Pages 61-116

  Mao, Mao ^a   Alavi, Marcel V ^a   Labelle Dumais, Cassandre ^a   Gould, Douglas B ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Basement membrane; COL4A1; COL4A2; Collagen; Myopathy; Ocular dysgenesis; Small vessel disease; Stroke

Indexed keywords

COLLAGEN TYPE 4;

ANIMAL; BASEMENT MEMBRANE; CHEMISTRY; CYTOLOGY; DISEASES; GENETICS; GENOMICS; HUMAN; METABOLISM; PATHOLOGY;

ANIMALS; BASEMENT MEMBRANE; CELL BIOLOGY; COLLAGEN TYPE IV; DISEASE; GENOMICS; HUMANS;

EID: 84950975539     PISSN: 10635823     EISSN: None     Source Type: Book Series    
DOI: 10.1016/bs.ctm.2015.09.002     Document Type: Article

References (324)

1. Adi D., Xie X., Xiang Y., Ma Y.T., Yang Y.N., Fu Z.Y., et al. Polymorphisms of COL4A1 gene are associated with arterial pulse wave velocity in healthy Han Chinese and Uygur subjects. International Journal of Clinical and Experimental Medicine 2015, 8(2):2693-2701.
2. Aguglia U., Gambardella A., Breedveld G.J., Oliveri R.L., Le Piane E., Messina D., et al. Suggestive evidence for linkage to chromosome 13qter for autosomal dominant type 1 porencephaly. Neurology 2004, 62(9):1613-1615.
3. Aikio M., Hurskainen M., Brideau G., Hagg P., Sormunen R., Heljasvaara R., et al. Collagen XVIII short isoform is critical for retinal vascularization, and overexpression of the Tsp-1 domain affects eye growth and cataract formation. Investigative Ophthalmology & Visual Science 2013, 54(12):7450-7462. 10.1167/iovs.13-13039.
4. Alamowitch S., Plaisier E., Favrole P., Prost C., Chen Z., Van Agtmael T., et al. Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome. Neurology 2009, 73(22):1873-1882. 10.1212/WNL.0b013e3181c3fd12.
5. Alanay Y., Avaygan H., Camacho N., Utine G.E., Boduroglu K., Aktas D., et al. Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta. American Journal of Human Genetics 2010, 86(4):551-559. 10.1016/j.ajhg.2010.02.022.
6. de Almeida S.F., Picarote G., Fleming J.V., Carmo-Fonseca M., Azevedo J.E., de Sousa M. Chemical chaperones reduce endoplasmic reticulum stress and prevent mutant HFE aggregate formation. Journal of Biological Chemistry 2007, 282(38):27905-27912. 10.1074/jbc.M702672200.
7. Alport A.C. Hereditary familial congenital haemorrhagic nephritis. British Medical Journal 1927, 1(3454):504-506.
8. Anker M.C., Arnemann J., Neumann K., Ahrens P., Schmidt H., Konig R. Alport syndrome with diffuse leiomyomatosis. American Journal of Medical Genetics, Part A 2003, 119A(3):381-385. 10.1002/ajmg.a.20019.
9. Annunen P., Autio-Harmainen H., Kivirikko K.I. The novel type II prolyl 4-hydroxylase is the main enzyme form in chondrocytes and capillary endothelial cells, whereas the type I enzyme predominates in most cells. Journal of Biological Chemistry 1998, 273(11):5989-5992.
10. Aro E., Salo A.M., Khatri R., Finnila M., Miinalainen I., Sormunen R., et al. Severe extracellular matrix abnormalities and chondrodysplasia in mice lacking collagen prolyl 4-hydroxylase isoenzyme II in combination with a reduced amount of isoenzyme I. Journal of Biological Chemistry 2015, 290(27):16964-16978. 10.1074/jbc.M115.662635.
11. Ayrignac X., Carra-Dalliere C., Menjot de Champfleur N., Denier C., Aubourg P., Bellesme C., et al. Adult-onset genetic leukoencephalopathies: a MRI pattern-based approach in a comprehensive study of 154 patients. Brain 2015, 138(Pt 2):284-292. 10.1093/brain/awu353.
12. Babel W., Glanville R.W. Structure of human-basement-membrane (type IV) collagen. Complete amino-acid sequence of a 914-residue-long pepsin fragment from the alpha 1(IV) chain. European Journal of Biochemistry 1984, 143(3):545-556.
13. Bachinger H.P. The influence of peptidyl-prolyl cis-trans isomerase on the in vitro folding of type III collagen. Journal of Biological Chemistry 1987, 262(35):17144-17148.
14. Bachinger H.P., Bruckner P., Timpl R., Engel J. The role of cis-trans isomerization of peptide bonds in the coil leads to and comes from triple helix conversion of collagen. European Journal of Biochemistry 1978, 90(3):605-613.
15. Bachinger H.P., Bruckner P., Timpl R., Prockop D.J., Engel J. Folding mechanism of the triple helix in type-III collagen and type-III pN-collagen. Role of disulfide bridges and peptide bond isomerization. European Journal of Biochemistry 1980, 106(2):619-632.
16. Bachinger H.P., Fessler L.I., Fessler J.H. Mouse procollagen IV. Characterization and supramolecular association. Journal of Biological Chemistry 1982, 257(16):9796-9803.
17. Bachinger H.P., Morris N.P., Davis J.M. Thermal stability and folding of the collagen triple helix and the effects of mutations in osteogenesis imperfecta on the triple helix of type I collagen. American Journal of Medical Genetics 1993, 45(2):152-162. 10.1002/ajmg.1320450204.
18. Barak T., Kwan K.Y., Louvi A., Demirbilek V., Saygi S., Tuysuz B., et al. Recessive LAMC3 mutations cause malformations of occipital cortical development. Nature Genetics 2011, 43(6):590-594. 10.1038/ng.836.
19. Barker D.F., Hostikka S.L., Zhou J., Chow L.T., Oliphant A.R., Gerken S.C., et al. Identification of mutations in the COL4A5 collagen gene in Alport syndrome. Science 1990, 248(4960):1224-1227.
20. Barnes A.M., Carter E.M., Cabral W.A., Weis M., Chang W., Makareeva E., et al. Lack of cyclophilin B in osteogenesis imperfecta with normal collagen folding. New England Journal of Medicine 2010, 362(6):521-528. 10.1056/NEJMoa0907705.
21. Barsh G.S., Roush C.L., Bonadio J., Byers P.H., Gelinas R.E. Intron-mediated recombination may cause a deletion in an alpha 1 type I collagen chain in a lethal form of osteogenesis imperfecta. Proceedings of the National Academy of Sciences of the United States of America 1985, 82(9):2870-2874.
22. Bateman J.F., Boot-Handford R.P., Lamande S.R. Genetic diseases of connective tissues: cellular and extracellular effects of ECM mutations. Nature Reviews Genetics 2009, 10(3):173-183. 10.1038/nrg2520.
23. Beggs H.E., Schahin-Reed D., Zang K., Goebbels S., Nave K.A., Gorski J., et al. FAK deficiency in cells contributing to the basal lamina results in cortical abnormalities resembling congenital muscular dystrophies. Neuron 2003, 40(3):501-514.
24. Berg R.A., Prockop D.J. The thermal transition of a non-hydroxylated form of collagen. Evidence for a role for hydroxyproline in stabilizing the triple-helix of collagen. Biochemical and Biophysical Research Communications 1973, 52(1):115-120.
25. Bhave G., Cummings C.F., Vanacore R.M., Kumagai-Cresse C., Ero-Tolliver I.A., Rafi M., et al. Peroxidasin forms sulfilimine chemical bonds using hypohalous acids in tissue genesis. Nature Chemical Biology 2012, 8(9):784-790. 10.1038/nchembio.1038.
26. Bilguvar K., DiLuna M.L., Bizzarro M.J., Bayri Y., Schneider K.C., Lifton R.P. COL4A1 mutation in preterm intraventricular hemorrhage. Journal of Pediatrics 2009, 155(5):743-745. Breastfeeding Trial, G. 10.1016/j.jpeds.2009.04.014.
27. Bonapace G., Waheed A., Shah G.N., Sly W.S. Chemical chaperones protect from effects of apoptosis-inducing mutation in carbonic anhydrase IV identified in retinitis pigmentosa 17. Proceedings of the National Academy of Sciences of the United States of America 2004, 101(33):12300-12305. 10.1073/pnas.0404764101.
28. Borchiellini C., Coulon J., Le Parco Y. The function of type IV collagen during Drosophila muscle development. Mechanisms of Development 1996, 58(1-2):179-191.
29. Borza D.B., Bondar O., Ninomiya Y., Sado Y., Naito I., Todd P., et al. The NC1 domain of collagen IV encodes a novel network composed of the alpha 1, alpha 2, alpha 5, and alpha 6 chains in smooth muscle basement membranes. Journal of Biological Chemistry 2001, 276(30):28532-28540. 10.1074/jbc.M103690200.
30. Borza D.B., Netzer K.O., Leinonen A., Todd P., Cervera J., Saus J., et al. The goodpasture autoantigen. Identification of multiple cryptic epitopes on the NC1 domain of the alpha3(IV) collagen chain. Journal of Biological Chemistry 2000, 275(8):6030-6037.
31. Boutaud A., Borza D.B., Bondar O., Gunwar S., Netzer K.O., Singh N., et al. Type IV collagen of the glomerular basement membrane. Evidence that the chain specificity of network assembly is encoded by the noncollagenous NC1 domains. Journal of Biological Chemistry 2000, 275(39):30716-30724. 10.1074/jbc.M004569200.
32. Boute N., Exposito J.Y., Boury-Esnault N., Vacelet J., Noro N., et al. Type IV collagen in sponges, the missing link in basement membrane ubiquity. Biological Cell 1996, 88(1-2):37-44.
33. Brazel D., Oberbaumer I., Dieringer H., Babel W., Glanville R.W., Deutzmann R., et al. Completion of the amino acid sequence of the alpha 1 chain of human basement membrane collagen (type IV) reveals 21 non-triplet interruptions located within the collagenous domain. European Journal of Biochemistry 1987, 168(3):529-536.
34. Brazel D., Pollner R., Oberbaumer I., Kuhn K. Human basement membrane collagen (type IV). The amino acid sequence of the alpha 2(IV) chain and its comparison with the alpha 1(IV) chain reveals deletions in the alpha 1(IV) chain. European Journal of Biochemistry 1988, 172(1):35-42.
35. Breathnach R., Chambon P. Organization and expression of eucaryotic split genes coding for proteins. Annual Review of Biochemistry 1981, 50:349-383. 10.1146/annurev.bi.50.070181.002025.
36. Breedveld G., de Coo I.F., Lequin M.H., Arts W.F., Heutink P., Gould D.B., et al. Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly. Journal of Medical Genetics 2006, 43(6):490-495. 10.1136/jmg.2005.035584.
37. Bruckner P., Eikenberry E.F. Formation of the triple helix of type I procollagen in cellulo. Temperature-dependent kinetics support a model based on cis in equilibrium trans isomerization of peptide bonds. European Journal of Biochemistry 1984, 140(2):391-395.
38. Byers P.H., Pyott S.M. Recessively inherited forms of osteogenesis imperfecta. Annual Review of Genetics 2012, 46:475-497. 10.1146/annurev-genet-110711-155608.
39. Byers P.H., Wallis G.A., Willing M.C. Osteogenesis imperfecta: translation of mutation to phenotype. Journal of Medical Genetics 1991, 28(7):433-442.
40. Cattanach B.M., Burtenshaw M.D., Rasberry C., Evans E.P. Large deletions and other gross forms of chromosome imbalance compatible with viability and fertility in the mouse. Nature Genetics 1993, 3(1):56-61. 10.1038/ng0193-56.
41. Chen Z., Migeon T., Verpont M.C., Zaidan M., Sado Y., Kerjaschki D., et al. HANAC syndrome Col4a1 mutation causes neonate glomerular hyperpermeability and adult glomerulocystic kidney disease. Journal of the American Society of Nephrology 2015, 10.1681/ASN.2014121217.
42. Chen Z.L., Yao Y., Norris E.H., Kruyer A., Jno-Charles O., Akhmerov A., et al. Ablation of astrocytic laminin impairs vascular smooth muscle cell function and leads to hemorrhagic stroke. Journal of Cell Biology 2013, 202(2):381-395. 10.1083/jcb.201212032.
43. Choi J., Na K., Bae S., Roh G. Anterior lens capsule abnormalities in Alport syndrome. Korean Journal of Ophthalmology 2005, 19(1):84-89.
44. Choi J.C. Genetics of cerebral small vessel disease. Journal of Stroke 2015, 17(1):7-16. 10.5853/jos.2015.17.1.7.
45. Choi J.W., Sutor S.L., Lindquist L., Evans G.L., Madden B.J., Bergen H.R., et al. Severe osteogenesis imperfecta in cyclophilin B-deficient mice. PLoS Genetics 2009, 5(12):e1000750. 10.1371/journal.pgen.1000750.
46. Christiansen H.E., Schwarze U., Pyott S.M., AlSwaid A., Al Balwi M., Alrasheed S., et al. Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta. American Journal of Human Genetics 2010, 86(3):389-398. 10.1016/j.ajhg.2010.01.034.
47. Chu M.L., Williams C.J., Pepe G., Hirsch J.L., Prockop D.J., Ramirez F. Internal deletion in a collagen gene in a perinatal lethal form of osteogenesis imperfecta. Nature 1983, 304(5921):78-80.
48. Citirik M., Batman C., Men G., Tuncel M., Zilelioglu O. Electron microscopic examination of the anterior lens capsule in a case of Alport's syndrome. Clinical & Experimental Optometry 2007, 90(5):367-370. 10.1111/j.1444-0938.2007.00134.x.
49. Cohn R.D., Henry M.D., Michele D.E., Barresi R., Saito F., Moore S.A., et al. Disruption of DAG1 in differentiated skeletal muscle reveals a role for dystroglycan in muscle regeneration. Cell 2002, 110(5):639-648.
50. Colin E., Sentilhes L., Sarfati A., Mine M., Guichet A., Ploton C., et al. Fetal intracerebral hemorrhage and cataract: think COL4A1. Journal of Perinatology 2014, 34(1):75-77. 10.1038/jp.2013.135.
51. Corlobe A., Tournier-Lasserve E., Mine M., Menjot de Champfleur N., Carra Dalliere C., et al. COL4A1 mutation revealed by an isolated brain hemorrhage. Cerebrovascular Diseases 2013, 35(6):593-594. 10.1159/000351520.
52. Cosgrove D. Glomerular pathology in Alport syndrome: a molecular perspective. Pediatric Nephrology 2012, 27(6):885-890. 10.1007/s00467-011-1868-z.
53. Cosgrove D., Meehan D.T., Grunkemeyer J.A., Kornak J.M., Sayers R., Hunter W.J., et al. Collagen COL4A3 knockout: a mouse model for autosomal Alport syndrome. Genes & Development 1996, 10(23):2981-2992.
54. Coupry I., Sibon I., Mortemousque B., Rouanet F., Mine M., Goizet C. Ophthalmological features associated with COL4A1 mutations. Archives of Ophthalmology 2010, 128(4):483-489. 10.1001/archophthalmol.2010.42.
55. Crouch E., Sage H., Bornstein P. Structural basis for apparent heterogeneity of collagens in human basement membranes: type IV procollagen contains two distinct chains. Proceedings of the National Academy of Sciences of the United States of America 1980, 77(2):745-749.
56. Cui Z., Zhao M.H. Advances in human antiglomerular basement membrane disease. Nature Reviews Nephrology 2011, 7(12):697-705. 10.1038/nrneph.2011.89.
57. Dean D.C., Barr J.F., Freytag J.W., Hudson B.G. Isolation of type IV procollagen-like polypeptides from glomerular basement membrane. Characterization of pro-alpha 1(IV). Journal of Biological Chemistry 1983, 258(1):590-596.
58. Deml B., Reis L.M., Maheshwari M., Griffis C., Bick D., Semina E.V. Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmia. Clinical Genetics 2014, 86(5):475-481. 10.1111/cge.12379.
59. Di Donato I., Banchi S., Federico A., Dotti M.T. Adult-onset genetic leukoencephalopathies. Focus on the more recently defined forms. Current Molecular Medicine 2014.
60. van Dijk F.S., Nesbitt I.M., Zwikstra E.H., Nikkels P.G., Piersma S.R., Fratantoni S.A., et al. PPIB mutations cause severe osteogenesis imperfecta. American Journal of Human Genetics 2009, 85(4):521-527. 10.1016/j.ajhg.2009.09.001.
61. Dolz R., Engel J., Kuhn K. Folding of collagen IV. European Journal of Biochemistry 1988, 178(2):357-366.
62. Doyle S.A., Smith B.D. Role of the pro-alpha2(I) COOH-terminal region in assembly of type I collagen: disruption of two intramolecular disulfide bonds in pro-alpha2(I) blocks assembly of type I collagen. Journal of Cellular Biochemistry 1998, 71(2):233-242.
63. Duncan K.G., Fessler L.I., Bachinger H.P., Fessler J.H. Procollagen IV. Association to tetramers. Journal of Biological Chemistry 1983, 258(9):5869-5877.
64. Ero-Tolliver I.A., Hudson B.G., Bhave G. The ancient immunoglobulin domains of peroxidasin are required to form sulfilimine cross-links in collagen IV. Journal of Biological Chemistry 2015, 290(35):21741-21748. 10.1074/jbc.M115.673996.
65. Ervasti J.M., Campbell K.P. A role for the dystrophin-glycoprotein complex as a transmembrane linker between laminin and actin. Journal of Cell Biology 1993, 122(4):809-823.
66. Fagg W.R., Timoneda J., Schwartz C.E., Langeveld J.P., Noelken M.E., Hudson B.G. Glomerular basement membrane: evidence for collagenous domain of the alpha 3 and alpha 4 chains of collagen IV. Biochemical and Biophysical Research Communications 1990, 170(1):322-327.
67. Falcone G.J., Malik R., Dichgans M., Rosand J. Current concepts and clinical applications of stroke genetics. Lancet Neurology 2014, 13(4):405-418. 10.1016/S1474-4422(14)70029-8.
68. Favor J., Gloeckner C.J., Janik D., Klempt M., Neuhauser-Klaus A., Pretsch W., et al. Type IV procollagen missense mutations associated with defects of the eye, vascular stability, the brain, kidney function and embryonic or postnatal viability in the mouse, Mus musculus: an extension of the Col4a1 allelic series and the identification of the first two Col4a2 mutant alleles. Genetics 2007, 175(2):725-736. 10.1534/genetics.106.064733.
69. Fidler A.L., Vanacore R.M., Chetyrkin S.V., Pedchenko V.K., Bhave G., Yin V.P., et al. A unique covalent bond in basement membrane is a primordial innovation for tissue evolution. Proceedings of the National Academy of Sciences of the United States of America 2014, 111(1):331-336. 10.1073/pnas.1318499111.
70. Firtina Z., Danysh B.P., Bai X., Gould D.B., Kobayashi T., Duncan M.K. Abnormal expression of collagen IV in lens activates unfolded protein response resulting in cataract. Journal of Biological Chemistry 2009, 284(51):35872-35884. 10.1074/jbc.M109.060384.
71. Fischer G., Schmidt C., Opitz J., Cully Z., Kuhn K., Poschl E. Identification of a novel sequence element in the common promoter region of human collagen type IV genes, involved in the regulation of divergent transcription. Biochemical Journal 1993, 292(Pt 3):687-695.
72. Fox M.A., Sanes J.R., Borza D.B., Eswarakumar V.P., Fassler R., Hudson B.G., et al. Distinct target-derived signals organize formation, maturation, and maintenance of motor nerve terminals. Cell 2007, 129(1):179-193. 10.1016/j.cell.2007.02.035.
73. Friedman L., Higgin J.J., Moulder G., Barstead R., Raines R.T., Kimble J. Prolyl 4-hydroxylase is required for viability and morphogenesis in Caenorhabditis elegans. Proceedings of the National Academy of Sciences of the United States of America 2000, 97(9):4736-4741.
74. Garcia-Torres R., Cruz D., Orozco L., Heidet L., Gubler M.C. Alport syndrome and diffuse leiomyomatosis. Clinical aspects, pathology, molecular biology and extracellular matrix studies. A synthesis. Nephrologie 2000, 21(1):9-12.
75. Gawlik K.I., Mayer U., Blomberg K., Sonnenberg A., Ekblom P., Durbeej M. Laminin alpha1 chain mediated reduction of laminin alpha2 chain deficient muscular dystrophy involves integrin alpha7beta1 and dystroglycan. FEBS Letters 2006, 580(7):1759-1765. 10.1016/j.febslet.2006.02.027.
76. Genersch E., Eckerskorn C., Lottspeich F., Herzog C., Kuhn K., Poschl E. Purification of the sequence-specific transcription factor CTCBF, involved in the control of human collagen IV genes: subunits with homology to Ku antigen. EMBO Journal 1995, 14(4):791-800.
77. Glanville R.W., Qian R.Q., Siebold B., Risteli J., Kuhn K. Amino acid sequence of the N-terminal aggregation and cross-linking region (7S domain) of the alpha 1 (IV) chain of human basement membrane collagen. European Journal of Biochemistry 1985, 152(1):213-219.
78. Gould D.B., Marchant J.K., Savinova O.V., Smith R.S., John S.W. Col4a1 mutation causes endoplasmic reticulum stress and genetically modifiable ocular dysgenesis. Human Molecular Genetics 2007, 16(7):798-807. 10.1093/hmg/ddm024.
79. Gould D.B., Phalan F.C., Breedveld G.J., van Mil S.E., Smith R.S., Schimenti J.C., et al. Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly. Science 2005, 308(5725):1167-1171. 10.1126/science.1109418.
80. Gould D.B., Phalan F.C., van Mil S.E., Sundberg J.P., Vahedi K., Massin P., et al. Role of COL4A1 in small-vessel disease and hemorrhagic stroke. New England Journal of Medicine 2006, 354(14):1489-1496. 10.1056/NEJMoa053727.
81. Gryder R.M., Lamon M., Adams E. Sequence position of 3-hydroxyproline in basement membrane collagen. Isolation of glycyl-3-hydroxyprolyl-4-hydroxyproline from swine kidney. Journal of Biological Chemistry 1975, 250(7):2470-2474.
82. Gunda B., Mine M., Kovacs T., Hornyak C., Bereczki D., Varallyay G., et al. COL4A2 mutation causing adult onset recurrent intracerebral hemorrhage and leukoencephalopathy. Journal of Neurology 2014, 261(3):500-503. 10.1007/s00415-013-7224-4.
83. Gunwar S., Ballester F., Noelken M.E., Sado Y., Ninomiya Y., Hudson B.G. Glomerular basement membrane. Identification of a novel disulfide-cross-linked network of alpha3, alpha4, and alpha5 chains of type IV collagen and its implications for the pathogenesis of Alport syndrome. Journal of Biological Chemistry 1998, 273(15):8767-8775.
84. Gunwar S., Bejarano P.A., Kalluri R., Langeveld J.P., Wisdom B.J., Noelken M.E., et al. Alveolar basement membrane: molecular properties of the noncollagenous domain (hexamer) of collagen IV and its reactivity with Goodpasture autoantibodies. American Journal of Respiratory Cell and Molecular Biology 1991, 5(2):107-112.
85. Guo H., Tong P., Peng Y., Wang T., Liu Y., Chen J., et al. Homozygous loss-of-function mutation of the LEPREL1 gene causes severe non-syndromic high myopia with early-onset cataract. Clinical Genetics 2014, 86(6):575-579. 10.1111/cge.12309.
86. Guo X.D., Johnson J.J., Kramer J.M. Embryonic lethality caused by mutations in basement membrane collagen of C. elegans. Nature 1991, 349(6311):707-709. 10.1038/349707a0.
87. Gupta M.C., Graham P.L., Kramer J.M. Characterization of alpha1(IV) collagen mutations in Caenorhabditis elegans and the effects of alpha1 and alpha2(IV) mutations on type IV collagen distribution. Journal of Cell Biology 1997, 137(5):1185-1196.
88. Haniel A., Welge-Lussen U., Kuhn K., Poschl E. Identification and characterization of a novel transcriptional silencer in the human collagen type IV gene COL4A2. Journal of Biological Chemistry 1995, 270(19):11209-11215.
89. Harbers K., Kuehn M., Delius H., Jaenisch R. Insertion of retrovirus into the first intron of alpha 1(I) collagen gene to embryonic lethal mutation in mice. Proceedings of the National Academy of Sciences of the United States of America 1984, 81(5):1504-1508.
90. Hautala T., Heikkinen J., Kivirikko K.I., Myllyla R. A large duplication in the gene for lysyl hydroxylase accounts for the type VI variant of Ehlers-Danlos syndrome in two siblings. Genomics 1993, 15(2):399-404. 10.1006/geno.1993.1074.
91. Hayashi Y.K., Chou F.L., Engvall E., Ogawa M., Matsuda C., Hirabayashi S., et al. Mutations in the integrin alpha7 gene cause congenital myopathy. Nature Genetics 1998, 19(1):94-97. 10.1038/ng0598-94.
92. Helbling-Leclerc A., Zhang X., Topaloglu H., Cruaud C., Tesson F., Weissenbach J., et al. Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy. Nature Genetics 1995, 11(2):216-218. 10.1038/ng1095-216.
93. Holster T., Pakkanen O., Soininen R., Sormunen R., Nokelainen M., Kivirikko K.I., et al. Loss of assembly of the main basement membrane collagen, type IV, but not fibril-forming collagens and embryonic death in collagen prolyl 4-hydroxylase I null mice. Journal of Biological Chemistry 2007, 282(4):2512-2519. 10.1074/jbc.M606608200.
94. Hostikka S.L., Eddy R.L., Byers M.G., Hoyhtya M., Shows T.B., Tryggvason K. Identification of a distinct type IV collagen alpha chain with restricted kidney distribution and assignment of its gene to the locus of X chromosome-linked Alport syndrome. Proceedings of the National Academy of Sciences of the United States of America 1990, 87(4):1606-1610.
95. Hostikka S.L., Tryggvason K. The complete primary structure of the alpha 2 chain of human type IV collagen and comparison with the alpha 1(IV) chain. Journal of Biological Chemistry 1988, 263(36):19488-19493.
96. Hudson B.G. The molecular basis of Goodpasture and Alport syndromes: beacons for the discovery of the collagen IV family. Journal of the American Society of Nephrology 2004, 15(10):2514-2527. 10.1097/01.ASN.0000141462.00630.76.
97. Hudson B.G., Tryggvason K., Sundaramoorthy M., Neilson E.G. Alport's syndrome, Goodpasture's syndrome, and type IV collagen. New England Journal of Medicine 2003, 348(25):2543-2556. 10.1056/NEJMra022296.
98. Hudson D.M., Eyre D.R. Collagen prolyl 3-hydroxylation: a major role for a minor post-translational modification?. Connective Tissue Research 2013, 54(4-5):245-251. 10.3109/03008207.2013.800867.
99. Hudson D.M., Joeng K.S., Werther R., Rajagopal A., Weis M., Lee B.H., et al. Post-translationally abnormal collagens of prolyl 3-hydroxylase-2 null mice offer a pathobiological mechanism for the high myopia linked to human LEPREL1 mutations. Journal of Biological Chemistry 2015, 290(13):8613-8622. 10.1074/jbc.M114.634915.
100. Iannitti T., Palmieri B. Clinical and experimental applications of sodium phenylbutyrate. Drugs in R&D 2011, 11(3):227-249. 10.2165/11591280-000000000-00000.
101. Jais J.P., Knebelmann B., Giatras I., De Marchi M., Rizzoni G., Renieri A., et al. X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a "European Community Alport Syndrome Concerted Action" study. Journal of the American Society of Nephrology 2003, 14(10):2603-2610.
102. Jeanne M., Jorgensen J., Gould D.B. Molecular and genetic analyses of collagen type IV mutant mouse models of spontaneous intracerebral hemorrhage identify mechanisms for stroke prevention. Circulation 2015, 131(18):1555-1565. 10.1161/CIRCULATIONAHA.114.013395.
103. Jeanne M., Labelle-Dumais C., Jorgensen J., Kauffman W.B., Mancini G.M., Favor J., et al. COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke. American Journal of Human Genetics 2012, 90(1):91-101. 10.1016/j.ajhg.2011.11.022.
104. Jiang D., Li J., Xiao X., Li S., Jia X., Sun W., et al. Detection of mutations in LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 in 298 families with early-onset high myopia by exome sequencing. Investigative Ophthalmology & Visual Science 2015, 56(1):339-345. 10.1167/iovs.14-14850.
105. Jimenez S., Harsch M., Rosenbloom J. Hydroxyproline stabilizes the triple helix of chick tendon collagen. Biochemical and Biophysical Research Communications 1973, 52(1):106-114.
106. Joutel A., Faraci F.M. Cerebral small vessel disease: insights and opportunities from mouse models of collagen IV-related small vessel disease and cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Stroke 2014, 45(4):1215-1221. 10.1161/STROKEAHA.113.002878.
107. Joutel A., Haddad I., Ratelade J., Nelson M.T. Perturbations of the cerebrovascular matrisome: a convergent mechanism in small vessel disease of the brain?. Journal of Cerebral Blood Flow & Metabolism 2015, 10.1038/jcbfm.2015.62.
108. Kalluri R., Gattone V.H., Hudson B.G. Identification and localization of type IV collagen chains in the inner ear cochlea. Connective Tissue Research 1998, 37(1-2):143-150.
109. Kalluri R., Shield C.F., Todd P., Hudson B.G., Neilson E.G. Isoform switching of type IV collagen is developmentally arrested in X-linked Alport syndrome leading to increased susceptibility of renal basement membranes to endoproteolysis. Journal of Clinical Investigation 1997, 99(10):2470-2478. 10.1172/JCI119431.
110. Kalluri R., Sun M.J., Hudson B.G., Neilson E.G. The Goodpasture autoantigen. Structural delineation of two immunologically privileged epitopes on alpha3(IV) chain of type IV collagen. Journal of Biological Chemistry 1996, 271(15):9062-9068.
111. Kang J.S., Colon S., Hellmark T., Sado Y., Hudson B.G., Borza D.B. Identification of noncollagenous sites encoding specific interactions and quaternary assembly of alpha 3 alpha 4 alpha 5(IV) collagen: implications for Alport gene therapy. Journal of Biological Chemistry 2008, 283(50):35070-35077. 10.1074/jbc.M806396200.
112. Kashtan C.E. Alport syndrome and thin glomerular basement membrane disease. Journal of the American Society of Nephrology 1998, 9(9):1736-1750.
113. Kashtan C.E. Alport syndrome. An inherited disorder of renal, ocular, and cochlear basement membranes. Medicine (Baltimore) 1999, 78(5):338-360.
114. Kashtan C.E. Familial hematuria due to type IV collagen mutations: Alport syndrome and thin basement membrane nephropathy. Current Opinion in Pediatrics 2004, 16(2):177-181.
115. Kefalides N.A. A collagen of unusual composition and a glycoprotein isolated from canine glomerular basement membrane. Biochemical and Biophysical Research Communications 1966, 22(1):26-32.
116. Kefalides N.A. Structure and biosynthesis of basement membranes. International Review of Connective Tissue Research 1973, 6:63-104.
117. Kefalides N.A. Basement membranes: structural and biosynthetic considerations. Journal of Investigative Dermatology 1975, 65(1):85-92.
118. Kelemen-Valkony I., Kiss M., Csiha J., Kiss A., Bircher U., et al. Drosophila basement membrane collagen Col4a1 mutations cause severe myopathy. Matrix Biology 2012, 31(1):29-37. 10.1016/j.matbio.2011.09.004.
119. Kelley P.B., Sado Y., Duncan M.K. Collagen IV in the developing lens capsule. Matrix Biology 2002, 21(5):415-423.
120. Khan K., Rudkin A., Parry D.A., Burdon K.P., McKibbin M., Logan C.V., et al. Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucoma. American Journal of Human Genetics 2011, 89(3):464-473. 10.1016/j.ajhg.2011.08.005.
121. Khoshnoodi J., Cartailler J.P., Alvares K., Veis A., Hudson B.G. Molecular recognition in the assembly of collagens: terminal noncollagenous domains are key recognition modules in the formation of triple helical protomers. Journal of Biological Chemistry 2006, 281(50):38117-38121. 10.1074/jbc.R600025200.
122. Khoshnoodi J., Sigmundsson K., Cartailler J.P., Bondar O., Sundaramoorthy M., Hudson B.G. Mechanism of chain selection in the assembly of collagen IV: a prominent role for the alpha2 chain. Journal of Biological Chemistry 2006, 281(9):6058-6069. 10.1074/jbc.M506555200.
123. Kivirikko K.I., Myllyharju J. Prolyl 4-hydroxylases and their protein disulfide isomerase subunit. Matrix Biology 1998, 16(7):357-368.
124. Kivirikko K.I., Myllyla R., Pihlajaniemi T. Hydroxylation of proline and lysine residues in collagens and other animal and plant proteins. Post-Translational modifications of proteins 1991, CRC Press, Boca Raton. 1st ed. J.J. Harding, M.J.C. Crabbe (Eds.).
125. Kivirikko K.I., Pihlajaniemi T. Collagen hydroxylases and the protein disulfide isomerase subunit of prolyl 4-hydroxylases. Advances In Enzymology and Related Areas of Molecular Biology 1998, 72:325-398.
126. Koide T., Asada S., Takahara Y., Nishikawa Y., Nagata K., Kitagawa K. Specific recognition of the collagen triple helix by chaperone HSP47: minimal structural requirement and spatial molecular orientation. Journal of Biological Chemistry 2006, 281(6):3432-3438. 10.1074/jbc.M509707200.
127. Koide T., Aso A., Yorihuzi T., Nagata K. Conformational requirements of collagenous peptides for recognition by the chaperone protein HSP47. Journal of Biological Chemistry 2000, 275(36):27957-27963. 10.1074/jbc.M003026200.
128. Koide T., Takahara Y., Asada S., Nagata K. Xaa-Arg-Gly triplets in the collagen triple helix are dominant binding sites for the molecular chaperone HSP47. Journal of Biological Chemistry 2002, 277(8):6178-6182. 10.1074/jbc.M106497200.
129. Koivu J. Disulfide bonding as a determinant of the molecular composition of types I, II and III procollagen. FEBS Letters 1987, 217(2):216-220.
130. Korstanje R., Caputo C.R., Doty R.A., Cook S.A., Bronson R.T., Davisson M.T., et al. A mouse Col4a4 mutation causing Alport glomerulosclerosis with abnormal collagen alpha3alpha4alpha5(IV) trimers. Kidney International 2014, 85(6):1461-1468. 10.1038/ki.2013.493.
131. Kresina T.F., Miller E.J. Isolation and characterization of basement membrane collagen from human placental tissue. Evidence for the presence of two genetically distinct collagen chains. Biochemistry 1979, 18(14):3089-3097.
132. Kruegel J., Miosge N. Basement membrane components are key players in specialized extracellular matrices. Cellular and Molecular Life Sciences 2010, 67(17):2879-2895. 10.1007/s00018-010-0367-x.
133. Kruegel J., Rubel D., Gross O. Alport syndrome-insights from basic and clinical research. Nature Reviews Nephrology 2013, 9(3):170-178. 10.1038/nrneph.2012.259.
134. Kuhn K., Wiedemann H., Timpl R., Risteli J., Dieringer H., Voss T., et al. Macromolecular structure of basement membrane collagens. FEBS Letters 1981, 125(1):123-128.
135. Kuivaniemi H., Tromp G., Prockop D.J. Mutations in collagen genes: causes of rare and some common diseases in humans. FASEB Journal 1991, 5(7):2052-2060.
136. Kuo D.S., Labelle-Dumais C., Gould D.B. COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets. Human Molecular Genetics 2012, 21(R1):R97-R110. 10.1093/hmg/dds346.
137. Kuo D.S., Labelle-Dumais C., Mao M., Jeanne M., Kauffman W.B., Allen J., et al. Allelic heterogeneity contributes to variability in ocular dysgenesis, myopathy and brain malformations caused by Col4a1 and Col4a2 mutations. Human Molecular Genetics 2014, 23(7):1709-1722. 10.1093/hmg/ddt560.
138. Labelle-Dumais C., Dilworth D.J., Harrington E.P., de Leau M., Lyons D., Kabaeva Z., et al. COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans. PLoS Genetics 2011, 7(5):e1002062. 10.1371/journal.pgen.1002062.
139. Lamande S.R., Chessler S.D., Golub S.B., Byers P.H., Chan D., Cole W.G., et al. Endoplasmic reticulum-mediated quality control of type I collagen production by cells from osteogenesis imperfecta patients with mutations in the pro alpha 1 (I) chain carboxyl-terminal propeptide which impair subunit assembly. Journal of Biological Chemistry 1995, 270(15):8642-8649.
140. Lanfranconi S., Markus H.S. COL4A1 mutations as a monogenic cause of cerebral small vessel disease: a systematic review. Stroke 2010, 41(8):e513-518. 10.1161/STROKEAHA.110.581918.
141. Leinonen A., Mariyama M., Mochizuki T., Tryggvason K., Reeders S.T. Complete primary structure of the human type IV collagen alpha 4(IV) chain. Comparison with structure and expression of the other alpha (IV) chains. Journal of Biological Chemistry 1994, 269(42):26172-26177.
142. Leinonen A., Netzer K.O., Boutaud A., Gunwar S., Hudson B.G. Goodpasture antigen: expression of the full-length alpha3(IV) chain of collagen IV and localization of epitopes exclusively to the noncollagenous domain. Kidney International 1999, 55(3):926-935. 10.1046/j.1523-1755.1999.055003926.x.
143. Lemmens R., Maugeri A., Niessen H.W., Goris A., Tousseyn T., Demaerel P., et al. Novel COL4A1 mutations cause cerebral small vessel disease by haploinsufficiency. Human Molecular Genetics 2013, 22(2):391-397. 10.1093/hmg/dds436.
144. Lemmink H.H., Mochizuki T., van den Heuvel L.P., Schroder C.H., Barrientos A., Monnens L.A., et al. Mutations in the type IV collagen alpha 3 (COL4A3) gene in autosomal recessive Alport syndrome. Human Molecular Genetics 1994, 3(8):1269-1273.
145. Lerner R.A., Glassock R.J., Dixon F.J. The role of anti-glomerular basement membrane antibody in the pathogenesis of human glomerulonephritis. Journal of Experimental Medicine 1967, 126(6):989-1004.
146. Lichtenbelt K.D., Pistorius L.R., De Tollenaer S.M., Mancini G.M., De Vries L.S. Prenatal genetic confirmation of a COL4A1 mutation presenting with sonographic fetal intracranial hemorrhage. Ultrasound in Obstetrics & Gynecology 2012, 39(6):726-727. 10.1002/uog.11070.
147. Lim A.L., Doyle S.A., Balian G., Smith B.D. Role of the pro-alpha2(I) COOH-terminal region in assembly of type I collagen: truncation of the last 10 amino acid residues of pro-alpha2(I) chain prevents assembly of type I collagen heterotrimer. Journal of Cellular Biochemistry 1998, 71(2):216-232.
148. Lindert U., Weis M.A., Rai J., Seeliger F., Hausser I., Leeb T., et al. Molecular consequences of the SERPINH1/HSP47 mutation in the Dachshund natural model of osteogenesis imperfecta. Journal of Biological Chemistry 2015, 290(29):17679-17689. 10.1074/jbc.M115.661025.
149. Livingston J., Doherty D., Orcesi S., Tonduti D., Piechiecchio A., La Piana R., et al. COL4A1 mutations associated with a characteristic pattern of intracranial calcification. Neuropediatrics 2011, 42(6):227-233. 10.1055/s-0031-1295493.
150. Lohler J., Timpl R., Jaenisch R. Embryonic lethal mutation in mouse collagen I gene causes rupture of blood vessels and is associated with erythropoietic and mesenchymal cell death. Cell 1984, 38(2):597-607.
151. Lu W., Phillips C.L., Killen P.D., Hlaing T., Harrison W.R., Elder F.F., et al. Insertional mutation of the collagen genes Col4a3 and Col4a4 in a mouse model of Alport syndrome. Genomics 1999, 61(2):113-124. 10.1006/geno.1999.5943.
152. Luo R., Jeong S.J., Jin Z., Strokes N., Li S., Piao X. G protein-coupled receptor 56 and collagen III, a receptor-ligand pair, regulates cortical development and lamination. Proceedings of the National Academy of Sciences of the United States of America 2011, 108(31):12925-12930. 10.1073/pnas.1104821108.
153. Lyon M.F., Glenister P.H., West J.D. Bruised (Bru). Mouse News Letter 1984, 71:1.
154. Malhotra V., Erlmann P. Protein export at the ER: loading big collagens into COPII carriers. EMBO Journal 2011, 30(17):3475-3480. 10.1038/emboj.2011.255.
155. Malhotra V., Erlmann P., Nogueira C. Procollagen export from the endoplasmic reticulum. Biochemical Society Transactions 2015, 43(1):104-107. 10.1042/BST20140286.
156. Mao M., Smith R.S., Alavi M.V., Marchant J.K., Cosma M., Libby R.T., John S.W.M., Gould D.B. Strain dependent anterior segment dysgenesis and progression to glaucoma in Col4a1 mutant mice. Investigative Ophthalmology & Visual Science 2015, 56. 10.1167/iovs.15-17527.
157. Marini J.C., Forlino A., Cabral W.A., Barnes A.M., San Antonio J.D., Milgrom S., et al. Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans. Human Mutation 2007, 28(3):209-221. 10.1002/humu.20429.
158. Mariyama M., Leinonen A., Mochizuki T., Tryggvason K., Reeders S.T. Complete primary structure of the human alpha 3(IV) collagen chain. Coexpression of the alpha 3(IV) and alpha 4(IV) collagen chains in human tissues. Journal of Biological Chemistry 1994, 269(37):23013-23017.
159. Mariyama M., Zheng K., Yang-Feng T.L., Reeders S.T. Colocalization of the genes for the alpha 3(IV) and alpha 4(IV) chains of type IV collagen to chromosome 2 bands q35-q37. Genomics 1992, 13(3):809-813.
160. Marneros A.G., Olsen B.R. Physiological role of collagen XVIII and endostatin. FASEB Journal 2005, 19(7):716-728. 10.1096/fj.04-2134rev.
161. Marutani T., Yamamoto A., Nagai N., Kubota H., Nagata K. Accumulation of type IV collagen in dilated ER leads to apoptosis in Hsp47-knockout mouse embryos via induction of CHOP. Journal of Cell Science 2004, 117(Pt 24):5913-5922. 10.1242/jcs.01514.
162. Matsuoka Y., Kubota H., Adachi E., Nagai N., Marutani T., Hosokawa N., et al. Insufficient folding of type IV collagen and formation of abnormal basement membrane-like structure in embryoid bodies derived from Hsp47-null embryonic stem cells. Molecular Biology of the Cell 2004, 15(10):4467-4475. 10.1091/mbc.E04-01-0050.
163. Mayne R., Zettergren J.G. Type IV collagen from chicken muscular tissues. Isolation and characterization of the pepsin-resistant fragments. Biochemistry 1980, 19(17):4065-4072.
164. Menezes M.J., McClenahan F.K., Leiton C.V., Aranmolate A., Shan X., Colognato H. The extracellular matrix protein laminin alpha2 regulates the maturation and function of the blood-brain barrier. Journal of Neuroscience 2014, 34(46):15260-15280. 10.1523/JNEUROSCI.3678-13.2014.
165. Merkel F., Kalluri R., Marx M., Enders U., Stevanovic S., Giegerich G., et al. Autoreactive T-cells in Goodpasture's syndrome recognize the N-terminal NC1 domain on alpha 3 type IV collagen. Kidney International 1996, 49(4):1127-1133.
166. Meuwissen M.E., de Vries L.S., Verbeek H.A., Lequin M.H., Govaert P.P., Schot R., et al. Sporadic COL4A1 mutations with extensive prenatal porencephaly resembling hydranencephaly. Neurology 2011, 76(9):844-846. 10.1212/WNL.0b013e31820e7751.
167. Miller E.J., Gay S. Collagen: an overview. Methods in Enzymology 1982, 82(Pt A):3-32.
168. Miner J.H., Sanes J.R. Collagen IV alpha 3, alpha 4, and alpha 5 chains in rodent basal laminae: sequence, distribution, association with laminins, and developmental switches. Journal of Cell Biology 1994, 127(3):879-891.
169. Miner J.H., Sanes J.R. Molecular and functional defects in kidneys of mice lacking collagen alpha 3(IV): implications for Alport syndrome. Journal of Cell Biology 1996, 135(5):1403-1413.
170. Minor R.R., Clark C.C., Strause E.L., Koszalka T.R., Brent R.L., Kefalides N.A. Basement membrane procollagen is not converted to collagen in organ cultures of parietal yolk sac endoderm. Journal of Biological Chemistry 1976, 251(6):1789-1794.
171. Miyagoe Y., Hanaoka K., Nonaka I., Hayasaka M., Nabeshima Y., Arahata K., et al. Laminin alpha2 chain-null mutant mice by targeted disruption of the Lama2 gene: a new model of merosin (laminin 2)-deficient congenital muscular dystrophy. FEBS Letters 1997, 415(1):33-39.
172. Mizuno K., Hayashi T., Peyton D.H., Bachinger H.P. The peptides acetyl-(Gly-3(S)Hyp-4(R)Hyp)10-NH2 and acetyl-(Gly-Pro-3(S)Hyp)10-NH2 do not form a collagen triple helix. Journal of Biological Chemistry 2004, 279(1):282-287. 10.1074/jbc.M308181200.
173. Mochizuki T., Lemmink H.H., Mariyama M., Antignac C., Gubler M.C., Pirson Y., et al. Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome. Nature Genetics 1994, 8(1):77-81. 10.1038/ng0994-77.
174. Momota R., Sugimoto M., Oohashi T., Kigasawa K., Yoshioka H., Ninomiya Y. Two genes, COL4A3 and COL4A4 coding for the human alpha3(IV) and alpha4(IV) collagen chains are arranged head-to-head on chromosome 2q36. FEBS Letters 1998, 424(1-2):11-16.
175. Moore S.A., Saito F., Chen J., Michele D.E., Henry M.D., Messing A., et al. Deletion of brain dystroglycan recapitulates aspects of congenital muscular dystrophy. Nature 2002, 418(6896):422-425. 10.1038/nature00838.
176. Morello R., Bertin T.K., Chen Y., Hicks J., Tonachini L., Monticone M., et al. CRTAP is required for prolyl 3-hydroxylation and mutations cause recessive osteogenesis imperfecta. Cell 2006, 127(2):291-304. 10.1016/j.cell.2006.08.039.
177. Murray L.S., Lu Y., Taggart A., Van Regemorter N., Vilain C., Abramowicz M., et al. Chemical chaperone treatment reduces intracellular accumulation of mutant collagen IV and ameliorates the cellular phenotype of a COL4A2 mutation that causes haemorrhagic stroke. Human Molecular Genetics 2014, 23(2):283-292. 10.1093/hmg/ddt418.
178. Muthukumaran G., Blumberg B., Kurkinen M. The complete primary structure for the alpha 1-chain of mouse collagen IV. Differential evolution of collagen IV domains. Journal of Biological Chemistry 1989, 264(11):6310-6317.
179. Myers J.C., Emanuel B.S. Chromosomal localization of human collagen genes. Collagen and Related Research 1987, 7(2):149-159.
180. Myllyharju J. Prolyl 4-hydroxylases, key enzymes in the synthesis of collagens and regulation of the response to hypoxia, and their roles as treatment targets. Annals of Medicine 2008, 40(6):402-417. 10.1080/07853890801986594.
181. Myllyharju J., Kivirikko K.I. Collagens, modifying enzymes and their mutations in humans, flies and worms. Trends in Genetics 2004, 20(1):33-43. 10.1016/j.tig.2003.11.004.
182. Nagai N., Hosokawa M., Itohara S., Adachi E., Matsushita T., Hosokawa N., et al. Embryonic lethality of molecular chaperone hsp47 knockout mice is associated with defects in collagen biosynthesis. Journal of Cell Biology 2000, 150(6):1499-1506.
183. Nagata K. Hsp47: a collagen-specific molecular chaperone. Trends in Biochemical Sciences 1996, 21(1):22-26.
184. Natsume T., Koide T., Yokota S., Hirayoshi K., Nagata K. Interactions between collagen-binding stress protein HSP47 and collagen. Analysis of kinetic parameters by surface plasmon resonance biosensor. Journal of Biological Chemistry 1994, 269(49):31224-31228.
185. Netzer K.O., Suzuki K., Itoh Y., Hudson B.G., Khalifah R.G. Comparative analysis of the noncollagenous NC1 domain of type IV collagen: identification of structural features important for assembly, function, and pathogenesis. Protein Science 1998, 7(6):1340-1351. 10.1002/pro.5560070610.
186. Niewmierzycka A., Mills J., St-Arnaud R., Dedhar S., Reichardt L.F. Integrin-linked kinase deletion from mouse cortex results in cortical lamination defects resembling cobblestone lissencephaly. Journal of Neuroscience 2005, 25(30):7022-7031. 10.1523/JNEUROSCI.1695-05.2005.
187. Ninomiya Y., Kagawa M., Iyama K., Naito I., Kishiro Y., Seyer J.M., et al. Differential expression of two basement membrane collagen genes, COL4A6 and COL4A5, demonstrated by immunofluorescence staining using peptide-specific monoclonal antibodies. Journal of Cell Biology 1995, 130(5):1219-1229.
188. Nissi R., Autio-Harmainen H., Marttila P., Sormunen R., Kivirikko K.I. Prolyl 4-hydroxylase isoenzymes I and II have different expression patterns in several human tissues. Journal of Histochemistry and Cytochemistry 2001, 49(9):1143-1153.
189. Niwa T., Aida N., Osaka H., Wada T., Saitsu H., Imai Y. Intracranial hemorrhage and tortuosity of veins detected on susceptibility-weighted imaging of a child with a type IV collagen alpha1 mutation and schizencephaly. Magnetic Resonance in Medical Sciences 2015, 14(3):223-226. 10.2463/mrms.2014-0060.
190. Norman K.R., Moerman D.G. The let-268 locus of Caenorhabditis elegans encodes a procollagen lysyl hydroxylase that is essential for type IV collagen secretion. Developmental Biology 2000, 227(2):690-705. 10.1006/dbio.2000.9897.
191. Oberbaumer I., Laurent M., Schwarz U., Sakurai Y., Yamada Y., Vogeli G., et al. Amino acid sequence of the non-collagenous globular domain (NC1) of the alpha 1(IV) chain of basement membrane collagen as derived from complementary DNA. European Journal of Biochemistry 1985, 147(2):217-224.
192. Olsen B.R., Alper R., Kefalides N.A. Structural characterization of a soluble fraction from lens-capsule basement membrane. European Journal of Biochemistry 1973, 38(2):220-228.
193. Ono T., Miyazaki T., Ishida Y., Uehata M., Nagata K. Direct in vitro and in vivo evidence for interaction between Hsp47 protein and collagen triple helix. Journal of Biological Chemistry 2012, 287(9):6810-6818. 10.1074/jbc.M111.280248.
194. Ozcan U., Yilmaz E., Ozcan L., Furuhashi M., Vaillancourt E., Smith R.O., et al. Chemical chaperones reduce ER stress and restore glucose homeostasis in a mouse model of type 2 diabetes. Science 2006, 313(5790):1137-1140. 10.1126/science.1128294.
195. O'Donnell C.J., Kavousi M., Smith A.V., Kardia S.L., Feitosa M.F., Hwang S.J., et al. Genome-wide association study for coronary artery calcification with follow-up in myocardial infarction. Circulation 2011, 124(25):2855-2864. 10.1161/CIRCULATIONAHA.110.974899.
196. Parkin J.D., San Antonio J.D., Pedchenko V., Hudson B., Jensen S.T., Savige J. Mapping structural landmarks, ligand binding sites, and missense mutations to the collagen IV heterotrimers predicts major functional domains, novel interactions, and variation in phenotypes in inherited diseases affecting basement membranes. Human Mutation 2011, 32(2):127-143. 10.1002/humu.21401.
197. Pedchenko V., Bondar O., Fogo A.B., Vanacore R., Voziyan P., Kitching A.R., et al. Molecular architecture of the Goodpasture autoantigen in anti-GBM nephritis. New England Journal of Medicine 2010, 363(4):343-354. 10.1056/NEJMoa0910500.
198. Peissel B., Geng L., Kalluri R., Kashtan C., Rennke H.G., Gallo G.R., et al. Comparative distribution of the alpha 1(IV), alpha 5(IV), and alpha 6(IV) collagen chains in normal human adult and fetal tissues and in kidneys from X-linked Alport syndrome patients. Journal of Clinical Investigation 1995, 96(4):1948-1957. 10.1172/JCI118241.
199. Perlmutter D.H. Chemical chaperones: a pharmacological strategy for disorders of protein folding and trafficking. Pediatric Research 2002, 52(6):832-836. 10.1203/00006450-200212000-00004.
200. Peto P., Salama A.D. Update on antiglomerular basement membrane disease. Current Opinion in Rheumatology 2011, 23(1):32-37. 10.1097/BOR.0b013e328341009f.
201. Pihlajaniemi T., Dickson L.A., Pope F.M., Korhonen V.R., Nicholls A., Prockop D.J., et al. Osteogenesis imperfecta: cloning of a pro-alpha 2(I) collagen gene with a frameshift mutation. Journal of Biological Chemistry 1984, 259(21):12941-12944.
202. Pihlajaniemi T., Pohjolainen E.R., Myers J.C. Complete primary structure of the triple-helical region and the carboxyl-terminal domain of a new type IV collagen chain, alpha 5(IV). Journal of Biological Chemistry 1990, 265(23):13758-13766.
203. Pihlajaniemi T., Tryggvason K., Myers J.C., Kurkinen M., Lebo R., Cheung M.C., et al. cDNA clones coding for the pro-alpha1(IV) chain of human type IV procollagen reveal an unusual homology of amino acid sequences in two halves of the carboxyl-terminal domain. Journal of Biological Chemistry 1985, 260(12):7681-7687.
204. Pinnell S.R., Krane S.M., Kenzora J.E., Glimcher M.J. A heritable disorder of connective tissue. Hydroxylysine-deficient collagen disease. New England Journal of Medicine 1972, 286(19):1013-1020. 10.1056/NEJM197205112861901.
205. Plaisier E., Alamowitch S., Gribouval O., Mougenot B., Gaudric A., Antignac C., et al. Autosomal-dominant familial hematuria with retinal arteriolar tortuosity and contractures: a novel syndrome. Kidney International 2005, 67(6):2354-2360. 10.1111/j.1523-1755.2005.00341.x.
206. Plaisier E., Chen Z., Gekeler F., Benhassine S., Dahan K., Marro B., et al. Novel COL4A1 mutations associated with HANAC syndrome: a role for the triple helical CB3[IV] domain. American Journal of Medical Genetics, Part A 2010, 152A(10):2550-2555. 10.1002/ajmg.a.33659.
207. Plaisier E., Gribouval O., Alamowitch S., Mougenot B., Prost C., Verpont M.C., et al. COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps. New England Journal of Medicine 2007, 357(26):2687-2695. 10.1056/NEJMoa071906.
208. Pokidysheva E., Boudko S., Vranka J., Zientek K., Maddox K., Moser M., et al. Biological role of prolyl 3-hydroxylation in type IV collagen. Proceedings of the National Academy of Sciences of the United States of America 2014, 111(1):161-166. 10.1073/pnas.1307597111.
209. Pollner R., Fischer G., Poschl E., Kuhn K. Regulation of divergent transcription of the genes coding for basement membrane type IV collagen. Annals of the New York Academy of Sciences 1990, 580:44-54.
210. Pollner R., Schmidt C., Fischer G., Kuhn K., Poschl E. Cooperative and competitive interactions of regulatory elements are involved in the control of divergent transcription of human Col4A1 and Col4A2 genes. FEBS Letters 1997, 405(1):31-36.
211. Poschl E., Pollner R., Kuhn K. The genes for the alpha 1(IV) and alpha 2(IV) chains of human basement membrane collagen type IV are arranged head-to-head and separated by a bidirectional promoter of unique structure. EMBO Journal 1988, 7(9):2687-2695.
212. Poschl E., Schlotzer-Schrehardt U., Brachvogel B., Saito K., Ninomiya Y., Mayer U. Collagen IV is essential for basement membrane stability but dispensable for initiation of its assembly during early development. Development 2004, 131(7):1619-1628. 10.1242/dev.01037.
213. Pyott S.M., Schwarze U., Christiansen H.E., Pepin M.G., Leistritz D.F., Dineen R., et al. Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes. Human Molecular Genetics 2011, 20(8):1595-1609. 10.1093/hmg/ddr037.
214. Radner S., Banos C., Bachay G., Li Y.N., Hunter D.D., Brunken W.J., et al. beta2 and gamma3 laminins are critical cortical basement membrane components: ablation of Lamb2 and Lamc3 genes disrupts cortical lamination and produces dysplasia. Developmental Neurobiology 2013, 73(3):209-229. 10.1002/dneu.22057.
215. Ramachandran G.N., Kartha G. Structure of collagen. Nature 1955, 176(4482):593-595.
216. Rannikmae K., Davies G., Thomson P.A., Bevan S., Devan W.J., Falcone G.J. Common variation in COL4A1/COL4A2 is associated with sporadic cerebral small vessel disease. Neurology 2015, 84(9):918-926. International Stroke Genetics, C. 10.1212/WNL.0000000000001309.
217. Rauch F., Fahiminiya S., Majewski J., Carrot-Zhang J., Boudko S., Glorieux F., et al. Cole-Carpenter syndrome is caused by a heterozygous missense mutation in P4HB. American Journal of Human Genetics 2015, 96(3):425-431. 10.1016/j.ajhg.2014.12.027.
218. Rautavuoma K., Takaluoma K., Sormunen R., Myllyharju J., Kivirikko K.I., Soininen R. Premature aggregation of type IV collagen and early lethality in lysyl hydroxylase 3 null mice. Proceedings of the National Academy of Sciences of the United States of America 2004, 101(39):14120-14125. 10.1073/pnas.0404966101.
219. Ren J., Wen L., Gao X., Jin C., Xue Y., Yao X. DOG 1.0: illustrator of protein domain structures. Cell Research 2009, 19(2):271-273. 10.1038/cr.2009.6.
220. Rheault M.N. Women and Alport syndrome. Pediatric Nephrology 2012, 27(1):41-46. 10.1007/s00467-011-1836-7.
221. Rheault M.N., Kren S.M., Thielen B.K., Mesa H.A., Crosson J.T., Thomas W., et al. Mouse model of X-linked Alport syndrome. Journal of the American Society of Nephrology 2004, 15(6):1466-1474.
222. Risteli J., Bachinger H.P., Engel J., Furthmayr H., Timpl R. 7-S collagen: characterization of an unusual basement membrane structure. European Journal of Biochemistry 1980, 108(1):239-250.
223. Risteli M., Ruotsalainen H., Salo A.M., Sormunen R., Sipila L., Baker N.L., et al. Reduction of lysyl hydroxylase 3 causes deleterious changes in the deposition and organization of extracellular matrix. Journal of Biological Chemistry 2009, 284(41):28204-28211. 10.1074/jbc.M109.038190.
224. Rodahl E., Knappskog P.M., Majewski J., Johansson S., Telstad W., Krakenes J., et al. Variants of anterior segment dysgenesis and cerebral involvement in a large family with a novel COL4A1 mutation. American Journal of Ophthalmology 2013, 155(5):946-953. 10.1016/j.ajo.2012.11.028.
225. Rooney J.E., Welser J.V., Dechert M.A., Flintoff-Dye N.L., Kaufman S.J., Burkin D.J. Severe muscular dystrophy in mice that lack dystrophin and alpha7 integrin. Journal of Cell Science 2006, 119(Pt 11):2185-2195. 10.1242/jcs.02952.
226. Rosenbloom J., Harsch M., Jimenez S. Hydroxyproline content determines the denaturation temperature of chick tendon collagen. Archives of Biochemistry and Biophysics 1973, 158(2):478-484.
227. Ruotsalainen H., Sipila L., Vapola M., Sormunen R., Salo A.M., Uitto L., et al. Glycosylation catalyzed by lysyl hydroxylase 3 is essential for basement membranes. Journal of Cell Science 2006, 119(Pt 4):625-635. 10.1242/jcs.02780.
228. Saga S., Nagata K., Chen W.T., Yamada K.M. pH-dependent function, purification, and intracellular location of a major collagen-binding glycoprotein. Journal of Cell Biology 1987, 105(1):517-527.
229. Saito K., Chen M., Bard F., Chen S., Zhou H., Woodley D., et al. TANGO1 facilitates cargo loading at endoplasmic reticulum exit sites. Cell 2009, 136(5):891-902. 10.1016/j.cell.2008.12.025.
230. Saito K., Yamashiro K., Ichikawa Y., Erlmann P., Kontani K., Malhotra V., et al. cTAGE5 mediates collagen secretion through interaction with TANGO1 at endoplasmic reticulum exit sites. Molecular Biology of the Cell 2011, 22(13):2301-2308. 10.1091/mbc.E11-02-0143.
231. Salama A.D., Levy J.B., Lightstone L., Pusey C.D. Goodpasture's disease. Lancet 2001, 358(9285):917-920. 10.1016/S0140-6736(01)06077-9.
232. Salo A.M., Cox H., Farndon P., Moss C., Grindulis H., Risteli M., et al. A connective tissue disorder caused by mutations of the lysyl hydroxylase 3 gene. American Journal of Human Genetics 2008, 83(4):495-503. 10.1016/j.ajhg.2008.09.004.
233. Salo A.M., Sipila L., Sormunen R., Ruotsalainen H., Vainio S., Myllyla R. The lysyl hydroxylase isoforms are widely expressed during mouse embryogenesis, but obtain tissue- and cell-specific patterns in the adult. Matrix Biology 2006, 25(8):475-483. 10.1016/j.matbio.2006.08.260.
234. Sanes J.R., Engvall E., Butkowski R., Hunter D.D. Molecular heterogeneity of basal laminae: isoforms of laminin and collagen IV at the neuromuscular junction and elsewhere. Journal of Cell Biology 1990, 111(4):1685-1699.
235. Saus J., Quinones S., MacKrell A., Blumberg B., Muthukumaran G., Pihlajaniemi T., et al. The complete primary structure of mouse alpha 2(IV) collagen. Alignment with mouse alpha 1(IV) collagen. Journal of Biological Chemistry 1989, 264(11):6318-6324.
236. Saus J., Wieslander J., Langeveld J.P., Quinones S., Hudson B.G. Identification of the Goodpasture antigen as the alpha 3(IV) chain of collagen IV. Journal of Biological Chemistry 1988, 263(26):13374-13380.
237. Savige J., Liu J., DeBuc D.C., Handa J.T., Hageman G.S., Wang Y.Y., et al. Retinal basement membrane abnormalities and the retinopathy of Alport syndrome. Investigative Ophthalmology & Visual Science 2010, 51(3):1621-1627. 10.1167/iovs.08-3323.
238. Savige J., Sheth S., Leys A., Nicholson A., Mack H.G., Colville D. Ocular features in Alport syndrome: pathogenesis and clinical significance. Clinical Journal of the American Society of Nephrology 2015, 10(4):703-709. 10.2215/CJN.10581014.
239. Schmid R.S., Anton E.S. Role of integrins in the development of the cerebral cortex. Cerebral Cortex 2003, 13(3):219-224.
240. Schmidpeter P.A., Schmid F.X. Prolyl isomerization and its catalysis in protein folding and protein function. Journal of Molecular Biology 2015, 427(7):1609-1631. 10.1016/j.jmb.2015.01.023.
241. Schmidt C., Fischer G., Kadner H., Genersch E., Kuhn K., Poschl E. Differential effects of DNA-binding proteins on bidirectional transcription from the common promoter region of human collagen type IV genes COL4A1 and COL4A2. Biochimica et Biophysica Acta 1993, 1174(1):1-10.
242. Schmidt C., Pollner R., Poschl E., Kuhn K. Expression of human collagen type IV genes is regulated by transcriptional and post-transcriptional mechanisms. FEBS Letters 1992, 312(2-3):174-178.
243. Schuppan D., Glanville R.W., Timpl R. Covalent structure of mouse type-IV collagen. Isolation, order and partial amino-acid sequence of cyanogen-bromide and tryptic peptides of pepsin fragment P1 from the alpha 1(IV) chain. European Journal of Biochemistry 1982, 123(3):505-512.
244. Schuppan D., Glanville R.W., Timpl R., Dixit S.N., Kang A.H. Sequence comparison of pepsin-resistant segments of basement-membrane collagen alpha 1(IV) chains from bovine lens capsule and mouse tumour. Biochemical Journal 1984, 220(1):227-233.
245. Schuppan D., Timpl R., Glanville R.W. Discontinuities in the triple helical sequence Gly-X-Y of basement membrane (type IV) collagen. FEBS Letters 1980, 115(2):297-300.
246. Schwarz-Magdolen U., Oberbaumer I., Kuhn K. cDNA and protein sequence of the NC1 domain of the alpha 2-chain of collagen IV and its comparison with alpha 1(IV). FEBS Letters 1986, 208(2):203-207.
247. Segal Y., Zhuang L., Rondeau E., Sraer J.D., Zhou J. Regulation of the paired type IV collagen genes COL4A5 and COL4A6. Role of the proximal promoter region. Journal of Biological Chemistry 2001, 276(15):11791-11797. 10.1074/jbc.M007477200.
248. Shah S., Ellard S., Kneen R., Lim M., Osborne N., Rankin J., et al. Childhood presentation of COL4A1 mutations. Developmental Medicine and Child Neurology 2012, 54(6):569-574. 10.1111/j.1469-8749.2011.04198.x.
249. Shah S., Kumar Y., McLean B., Churchill A., Stoodley N., Rankin J., et al. A dominantly inherited mutation in collagen IV A1 (COL4A1) causing childhood onset stroke without porencephaly. European Journal of Paediatric Neurology 2010, 14(2):182-187. 10.1016/j.ejpn.2009.04.010.
250. Shoulders M.D., Raines R.T. Collagen structure and stability. Annual Review of Biochemistry 2009, 78:929-958. 10.1146/annurev.biochem.77.032207.120833.
251. Sibley M.H., Graham P.L., von Mende N., Kramer J.M. Mutations in the alpha 2(IV) basement membrane collagen gene of Caenorhabditis elegans produce phenotypes of differing severities. EMBO Journal 1994, 13(14):3278-3285.
252. Sibon I., Coupry I., Menegon P., Bouchet J.P., Gorry P., Burgelin I., et al. COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke. Annals of Neurology 2007, 62(2):177-184. 10.1002/ana.21191.
253. Siebold B., Deutzmann R., Kuhn K. The arrangement of intra- and intermolecular disulfide bonds in the carboxyterminal, non-collagenous aggregation and cross-linking domain of basement-membrane type IV collagen. European Journal of Biochemistry 1988, 176(3):617-624.
254. Siebold B., Qian R.A., Glanville R.W., Hofmann H., Deutzmann R., Kuhn K. Construction of a model for the aggregation and cross-linking region (7S domain) of type IV collagen based upon an evaluation of the primary structure of the alpha 1 and alpha 2 chains in this region. European Journal of Biochemistry 1987, 168(3):569-575.
255. Sipila L., Ruotsalainen H., Sormunen R., Baker N.L., Lamande S.R., Vapola M., et al. Secretion and assembly of type IV and VI collagens depend on glycosylation of hydroxylysines. Journal of Biological Chemistry 2007, 282(46):33381-33388. 10.1074/jbc.M704198200.
256. Slavotinek A.M., Garcia S.T., Chandratillake G., Bardakjian T., Ullah E., Wu D., et al. Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects. Clinical Genetics 2014, 10.1111/cge.12543.
257. van der Slot A.J., Zuurmond A.M., Bardoel A.F., Wijmenga C., Pruijs H.E., Sillence D.O., et al. Identification of PLOD2 as telopeptide lysyl hydroxylase, an important enzyme in fibrosis. Journal of Biological Chemistry 2003, 278(42):40967-40972. 10.1074/jbc.M307380200.
258. Soininen R., Haka-Risku T., Prockop D.J., Tryggvason K. Complete primary structure of the alpha 1-chain of human basement membrane (type IV) collagen. FEBS Letters 1987, 225(1-2):188-194.
259. Soininen R., Huotari M., Hostikka S.L., Prockop D.J., Tryggvason K. The structural genes for alpha 1 and alpha 2 chains of human type IV collagen are divergently encoded on opposite DNA strands and have an overlapping promoter region. Journal of Biological Chemistry 1988, 263(33):17217-17220.
260. Stanton M.C., Tange J.D. Goodpasture's syndrome (pulmonary haemorrhage associated with glomerulonephritis). Australasian Annals of Medicine 1958, 7(2):132-144.
261. Stawikowski M.J., Aukszi B., Stawikowska R., Cudic M., Fields G.B. Glycosylation modulates melanoma cell alpha2beta1 and alpha3beta1 integrin interactions with type IV collagen. Journal of Biological Chemistry 2014, 289(31):21591-21604. 10.1074/jbc.M114.572073.
262. Steinmann B., Bruckner P., Superti-Furga A. Cyclosporin A slows collagen triple-helix formation in vivo: indirect evidence for a physiologic role of peptidyl-prolyl cis-trans-isomerase. Journal of Biological Chemistry 1991, 266(2):1299-1303.
263. Sugimoto M., Oohashi T., Ninomiya Y. The genes COL4A5 and COL4A6, coding for basement membrane collagen chains alpha 5(IV) and alpha 6(IV), are located head-to-head in close proximity on human chromosome Xq22 and COL4A6 is transcribed from two alternative promoters. Proceedings of the National Academy of Sciences of the United States of America 1994, 91(24):11679-11683.
264. Sund M., Maeshima Y., Kalluri R. Bifunctional promoter of type IV collagen COL4A5 and COL4A6 genes regulates the expression of alpha5 and alpha6 chains in a distinct cell-specific fashion. Biochemical Journal 2005, 387(Pt 3):755-761. 10.1042/BJ20041870.
265. Sundaramoorthy M., Meiyappan M., Todd P., Hudson B.G. Crystal structure of NC1 domains. Structural basis for type IV collagen assembly in basement membranes. Journal of Biological Chemistry 2002, 277(34):31142-31153. 10.1074/jbc.M201740200.
266. Takenouchi T., Ohyagi M., Torii C., Kosaki R., Takahashi T., Kosaki K. Porencephaly in a fetus and HANAC in her father: variable expression of COL4A1 mutation. American Journal of Medical Genetics, Part A 2015, 167A(1):156-158. 10.1002/ajmg.a.36823.
267. Tarasov K.V., Sanna S., Scuteri A., Strait J.B., Orru M., Parsa A., et al. COL4A1 is associated with arterial stiffness by genome-wide association scan. Circulation: Cardiovascular Genetics 2009, 2(2):151-158. 10.1161/CIRCGENETICS.108.823245.
268. Tasab M., Batten M.R., Bulleid N.J. Hsp47: a molecular chaperone that interacts with and stabilizes correctly-folded procollagen. EMBO Journal 2000, 19(10):2204-2211. 10.1093/emboj/19.10.2204.
269. Tasab M., Jenkinson L., Bulleid N.J. Sequence-specific recognition of collagen triple helices by the collagen-specific molecular chaperone HSP47. Journal of Biological Chemistry 2002, 277(38):35007-35012. 10.1074/jbc.M202782200.
270. Than M.E., Henrich S., Huber R., Ries A., Mann K., Kuhn K., et al. The 1.9-A crystal structure of the noncollagenous (NC1) domain of human placenta collagen IV shows stabilization via a novel type of covalent Met-Lys cross-link. Proceedings of the National Academy of Sciences of the United States of America 2002, 99(10):6607-6612. 10.1073/pnas.062183499.
271. Thaung C., West K., Clark B.J., McKie L., Morgan J.E., Arnold K., et al. Novel ENU-induced eye mutations in the mouse: models for human eye disease. Human Molecular Genetics 2002, 11(7):755-767.
272. Thielen B.K., Barker D.F., Nelson R.D., Zhou J., Kren S.M., Segal Y. Deletion mapping in Alport syndrome and Alport syndrome-diffuse leiomyomatosis reveals potential mechanisms of visceral smooth muscle overgrowth. Human Mutation 2003, 22(5):419. 10.1002/humu.9191.
273. Thorner P.S. Alport syndrome and thin basement membrane nephropathy. Nephron Clinical Practice 2007, 106(2):c82-88. 10.1159/000101802.
274. Tiainen P., Pasanen A., Sormunen R., Myllyharju J. Characterization of recombinant human prolyl 3-hydroxylase isoenzyme 2, an enzyme modifying the basement membrane collagen IV. Journal of Biological Chemistry 2008, 283(28):19432-19439. 10.1074/jbc.M802973200.
275. Timpl R. Structure and biological activity of basement membrane proteins. European Journal of Biochemistry 1989, 180(3):487-502.
276. Timpl R., Bruckner P., Fietzek P. Characterization of pepsin fragments of basement membrane collagen obtained from a mouse tumor. European Journal of Biochemistry 1979, 95(2):255-263.
277. Timpl R., Risteli J., Bachinger H.P. Identification of a new basement membrane collagen by the aid of a large fragment resistant to bacterial collagenase. FEBS Letters 1979, 101(2):265-268.
278. Timpl R., Wiedemann H., van Delden V., Furthmayr H., Kuhn K. A network model for the organization of type IV collagen molecules in basement membranes. European Journal of Biochemistry 1981, 120(2):203-211.
279. Tonduti D., Pichiecchio A., La Piana R., Livingston J.H., Doherty D.A., Majumdar A., et al. COL4A1-related disease: raised creatine kinase and cerebral calcification as useful pointers. Neuropediatrics 2012, 43(5):283-288. 10.1055/s-0032-1325116.
280. Tryggvason K., Patrakka J. Thin basement membrane nephropathy. Journal of the American Society of Nephrology 2006, 17(3):813-822. 10.1681/ASN.2005070737.
281. Tryggvason K., Robey P.G., Martin G.R. Biosynthesis of type IV procollagens. Biochemistry 1980, 19(7):1284-1289.
282. Uliana V., Marcocci E., Mucciolo M., Meloni I., Izzi C., Manno C., et al. Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2. Pediatric Nephrology 2011, 26(5):717-724. 10.1007/s00467-010-1693-9.
283. Vahedi K., Boukobza M., Massin P., Gould D.B., Tournier-Lasserve E., Bousser M.G. Clinical and brain MRI follow-up study of a family with COL4A1 mutation. Neurology 2007, 69(16):1564-1568. 10.1212/01.wnl.0000295994.46586.e7.
284. Vahedi K., Kubis N., Boukobza M., Arnoult M., Massin P., Tournier-Lasserve E., et al. COL4A1 mutation in a patient with sporadic, recurrent intracerebral hemorrhage. Stroke 2007, 38(5):1461-1464. 10.1161/STROKEAHA.106.475194.
285. Van Agtmael T., Bailey M.A., Schlotzer-Schrehardt U., Craigie E., Jackson I.J., Brownstein D.G., et al. Col4a1 mutation in mice causes defects in vascular function and low blood pressure associated with reduced red blood cell volume. Human Molecular Genetics 2010, 19(6):1119-1128. 10.1093/hmg/ddp584.
286. Van Agtmael T., Schlotzer-Schrehardt U., McKie L., Brownstein D.G., Lee A.W., Cross S.H., et al. Dominant mutations of Col4a1 result in basement membrane defects which lead to anterior segment dysgenesis and glomerulopathy. Human Molecular Genetics 2005, 14(21):3161-3168. 10.1093/hmg/ddi348.
287. Vanacore R., Ham A.J., Voehler M., Sanders C.R., Conrads T.P., Veenstra T.D., et al. A sulfilimine bond identified in collagen IV. Science 2009, 325(5945):1230-1234. 10.1126/science.1176811.
288. Vanacore R.M., Friedman D.B., Ham A.J., Sundaramoorthy M., Hudson B.G. Identification of S-hydroxylysyl-methionine as the covalent cross-link of the noncollagenous (NC1) hexamer of the alpha1alpha1alpha2 collagen IV network: a role for the post-translational modification of lysine 211 to hydroxylysine 211 in hexamer assembly. Journal of Biological Chemistry 2005, 280(32):29300-29310. 10.1074/jbc.M502752200.
289. Vanacore R.M., Shanmugasundararaj S., Friedman D.B., Bondar O., Hudson B.G., Sundaramoorthy M. The alpha1.alpha2 network of collagen IV. Reinforced stabilization of the noncollagenous domain-1 by noncovalent forces and the absence of Met-Lys cross-links. Journal of Biological Chemistry 2004, 279(43):44723-44730. 10.1074/jbc.M406344200.
290. Vandenberg P., Kern A., Ries A., Luckenbill-Edds L., Mann K., Kuhn K. Characterization of a type IV collagen major cell binding site with affinity to the alpha 1 beta 1 and the alpha 2 beta 1 integrins. Journal of Cell Biology 1991, 113(6):1475-1483.
291. Verbeek E., Meuwissen M.E., Verheijen F.W., Govaert P.P., Licht D.J., Kuo D.S., et al. COL4A2 mutation associated with familial porencephaly and small-vessel disease. European Journal of Human Genetics 2012, 20(8):844-851. 10.1038/ejhg.2012.20.
292. Vermeulen R.J., Peeters-Scholte C., Van Vugt J.J., Barkhof F., Rizzu P., van der Schoor S.R., et al. Fetal origin of brain damage in 2 infants with a COL4A1 mutation: fetal and neonatal MRI. Neuropediatrics 2011, 42(1):1-3. 10.1055/s-0031-1275343.
293. Vranka J., Stadler H.S., Bachinger H.P. Expression of prolyl 3-hydroxylase genes in embryonic and adult mouse tissues. Cell Structure and Function 2009, 34(2):97-104.
294. Vranka J.A., Pokidysheva E., Hayashi L., Zientek K., Mizuno K., Ishikawa Y., et al. Prolyl 3-hydroxylase 1 null mice display abnormalities in fibrillar collagen-rich tissues such as tendons, skin, and bones. Journal of Biological Chemistry 2010, 285(22):17253-17262. 10.1074/jbc.M110.102228.
295. de Vries L.S., Koopman C., Groenendaal F., Van Schooneveld M., Verheijen F.W., Verbeek E., et al. COL4A1 mutation in two preterm siblings with antenatal onset of parenchymal hemorrhage. Annals of Neurology 2009, 65(1):12-18. 10.1002/ana.21525.
296. de Vries L.S., Mancini G.M. Intracerebral hemorrhage and COL4A1 and COL4A2 mutations, from fetal life into adulthood. Annals of Neurology 2012, 71(4):439-441. 10.1002/ana.23544.
297. Welch W.J., Brown C.R. Influence of molecular and chemical chaperones on protein folding. Cell Stress & Chaperones 1996, 1(2):109-115.
298. Weng Y.C., Sonni A., Labelle-Dumais C., de Leau M., Kauffman W.B., Jeanne M., et al. COL4A1 mutations in patients with sporadic late-onset intracerebral hemorrhage. Annals of Neurology 2012, 71(4):470-477. 10.1002/ana.22682.
299. Wieslander J., Barr J.F., Butkowski R.J., Edwards S.J., Bygren P., Heinegard D., et al. Goodpasture antigen of the glomerular basement membrane: localization to noncollagenous regions of type IV collagen. Proceedings of the National Academy of Sciences of the United States of America 1984, 81(12):3838-3842.
300. Wieslander J., Langeveld J., Butkowski R., Jodlowski M., Noelken M., Hudson B.G. Physical and immunochemical studies of the globular domain of type IV collagen. Cryptic properties of the Goodpasture antigen. Journal of Biological Chemistry 1985, 260(14):8564-8570.
301. Wilkinson B., Gilbert H.F. Protein disulfide isomerase. Biochimica et Biophysica Acta 2004, 1699(1-2):35-44. 10.1016/j.bbapap.2004.02.017.
302. Willem M., Miosge N., Halfter W., Smyth N., Jannetti I., Burghart E., et al. Specific ablation of the nidogen-binding site in the laminin gamma1 chain interferes with kidney and lung development. Development 2002, 129(11):2711-2722.
303. Wilson C., Borza D., Hudson B. Autoimmune renal disease involving renal basement membrane antigen. The molecular pathology of autoimmune diseases 2002, 981-1010. Gordon&Breach Science/Harwood Academic, Newark. 2nd ed. A.N. Theofilopoulos, A.C. Bona (Eds.).
304. Wilson D.G., Phamluong K., Li L., Sun M., Cao T.C., Liu P.S., et al. Global defects in collagen secretion in a Mia3/TANGO1 knockout mouse. Journal of Cell Biology 2011, 193(5):935-951. 10.1083/jcb.201007162.
305. Winter A.D., McCormack G., Page A.P. Protein disulfide isomerase activity is essential for viability and extracellular matrix formation in the nematode Caenorhabditis elegans. Developmental Biology 2007, 308(2):449-461. 10.1016/j.ydbio.2007.05.041.
306. Xia X.Y., Li N., Cao X., Wu Q.Y., Li T.F., Zhang C., et al. A novel COL4A1 gene mutation results in autosomal dominant non-syndromic congenital cataract in a Chinese family. BMC Medical Genetics 2014, 15:97. 10.1186/s12881-014-0097-2.
307. Xu H., Christmas P., Wu X.R., Wewer U.M., Engvall E. Defective muscle basement membrane and lack of M-laminin in the dystrophic dy/dy mouse. Proceedings of the National Academy of Sciences of the United States of America 1994, 91(12):5572-5576.
308. Yamamoto Y., Craggs L., Baumann M., Kalimo H., Kalaria R.N. Review: molecular genetics and pathology of hereditary small vessel diseases of the brain. Neuropathology and Applied Neurobiology 2011, 37(1):94-113. 10.1111/j.1365-2990.2010.01147.x.
309. Yamauchi M., Sricholpech M. Lysine post-translational modifications of collagen. Essays in Biochemistry 2012, 52:113-133. 10.1042/bse0520113.
310. Yan X., Sabrautzki S., Horsch M., Fuchs H., Gailus-Durner V., Beckers J., et al. Peroxidasin is essential for eye development in the mouse. Human Molecular Genetics 2014, 23(21):5597-5614. 10.1093/hmg/ddu274.
311. Yao Y., Chen Z.L., Norris E.H., Strickland S. Astrocytic laminin regulates pericyte differentiation and maintains blood-brain barrier integrity. Nature Communications 2014, 5:3413. 10.1038/ncomms4413.
312. Yasothornsrikul S., Davis W.J., Cramer G., Kimbrell D.A., Dearolf C.R. viking: identification and characterization of a second type IV collagen in Drosophila. Gene 1997, 198(1-2):17-25.
313. Ylikarppa R., Eklund L., Sormunen R., Kontiola A.I., Utriainen A., Maatta M., et al. Lack of type XVIII collagen results in anterior ocular defects. FASEB Journal 2003, 17(15):2257-2259. 10.1096/fj.02-1001fje.
314. Yoneda Y., Haginoya K., Kato M., Osaka H., Yokochi K., Arai H., et al. Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly. Annals of Neurology 2013, 73(1):48-57. 10.1002/ana.23736.
315. Yoshioka K., Hino S., Takemura T., Maki S., Wieslander J., Takekoshi Y., et al. Type IV collagen alpha 5 chain. Normal distribution and abnormalities in X-linked Alport syndrome revealed by monoclonal antibody. American Journal of Pathology 1994, 144(5):986-996.
316. Yurchenco P.D., Furthmayr H. Self-assembly of basement membrane collagen. Biochemistry 1984, 23(8):1839-1850.
317. Yurchenco P.D., Ruben G.C. Basement membrane structure in situ: evidence for lateral associations in the type IV collagen network. Journal of Cell Biology 1987, 105(6 Pt 1):2559-2568.
318. Yurchenco P.D., Ruben G.C. Type IV collagen lateral associations in the EHS tumor matrix. Comparison with amniotic and in vitro networks. American Journal of Pathology 1988, 132(2):278-291.
319. Zenker M., Aigner T., Wendler O., Tralau T., Muntefering H., Fenski R., et al. Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities. Human Molecular Genetics 2004, 13(21):2625-2632. 10.1093/hmg/ddh284.
320. Zhang K.W., Colville D., Tan R., Jones C., Alexander S.I., Fletcher J., et al. The use of ocular abnormalities to diagnose X-linked Alport syndrome in children. Pediatric Nephrology 2008, 23(8):1245-1250. 10.1007/s00467-008-0759-4.
321. Zhao J., Cui Z., Yang R., Jia X.Y., Zhang Y., Zhao M.H. Anti-glomerular basement membrane autoantibodies against different target antigens are associated with disease severity. Kidney International 2009, 76(10):1108-1115. 10.1038/ki.2009.348.
322. Zhou J., Ding M., Zhao Z., Reeders S.T. Complete primary structure of the sixth chain of human basement membrane collagen, alpha 6(IV). Isolation of the cDNAs for alpha 6(IV) and comparison with five other type IV collagen chains. Journal of Biological Chemistry 1994, 269(18):13193-13199.
323. Zhou J., Hertz J.M., Leinonen A., Tryggvason K. Complete amino acid sequence of the human alpha 5 (IV) collagen chain and identification of a single-base mutation in exon 23 converting glycine 521 in the collagenous domain to cysteine in an Alport syndrome patient. Journal of Biological Chemistry 1992, 267(18):12475-12481.
324. Zode G.S., Kuehn M.H., Nishimura D.Y., Searby C.C., Mohan K., Grozdanic S.D., et al. Reduction of ER stress via a chemical chaperone prevents disease phenotypes in a mouse model of primary open angle glaucoma. Journal of Clinical Investigation 2011, 121(9):3542-3553. 10.1172/JCI58183.