Solving glycosylation disorders: Fundamental approaches reveal complicated pathways

American Journal of Human Genetics

Volumn 94, Issue 2, 2014, Pages 161-175

  Freeze, Hudson H ^a   Chong, Jessica X ^b   Bamshad, Michael J ^b   Ng, Bobby G ^a  

^a BURNHAM INSTITUTE   (United States)

^b UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CONGENITAL DISORDERS OF GLYCOSYLATION; EXOME; GENOME, HUMAN; GLUCOSE; GLYCOGEN; GLYCOSYLATION; HOMEOSTASIS; HUMANS; MANNOSE; MUTATION;

EID: 84893734160     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2013.10.024     Document Type: Review

References (104)

1. H.H. Freeze Understanding human glycosylation disorders: biochemistry leads the charge J. Biol. Chem. 288 2013 6936 6945
2. J. de Ligt, M.H. Willemsen, B.W. van Bon, T. Kleefstra, H.G. Yntema, T. Kroes, A.T. Vulto-van Silfhout, D.A. Koolen, P. de Vries, and C. Gilissen et al. Diagnostic exome sequencing in persons with severe intellectual disability N. Engl. J. Med. 367 2012 1921 1929
3. C.J. Saunders, N.A. Miller, S.E. Soden, D.L. Dinwiddie, A. Noll, N.A. Alnadi, N. Andraws, M.L. Patterson, L.A. Krivohlavek, and J. Fellis et al. Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units Sci. Transl. Med. 4 2012 ra135
4. H.C. Mefford Diagnostic exome sequencing - are we there yet? N. Engl. J. Med. 367 2012 1951 1953
5. A. Varki, and J.B. Lowe Biological Roles of Glycans A. Varki, R.D. Cummings, J.D. Esko, H.H. Freeze, P. Stanley, C.R. Bertozzi, G.W. Hart, M.E. Etzler, Essentials of Glycobiology Second Edition 2009 Cold Spring Harbor Laboratory Press Cold Spring Harbor 75 88
6. N.V. Artemenko, A.G. McDonald, G.P. Davey, and P.M. Rudd Databases and tools in glycobiology Methods Mol. Biol. 899 2012 325 350
7. C.D. Rillahan, and J.C. Paulson Glycan microarrays for decoding the glycome Annu. Rev. Biochem. 80 2011 797 823
8. L.A. Cole hCG, the wonder of today's science Reprod. Biol. Endocrinol. 10 2012 24
9. C.L. Lee, K.K. Lam, H. Koistinen, M. Seppala, M. Kurpisz, N. Fernandez, R.T. Pang, W.S. Yeung, and P.C. Chiu Glycodelin-A as a paracrine regulator in early pregnancy J. Reprod. Immunol. 90 2011 29 34
10. A. Bondt, M.H. Selman, A.M. Deelder, J.M. Hazes, S.P. Willemsen, M. Wuhrer, and R.J. Dolhain Association between Galactosylation of Immunoglobulin G and Improvement of Rheumatoid Arthritis during Pregnancy Is Independent of Sialylation J. Proteome Res. 12 2013 4522 4531 10.1021/pr400589m
11. K. Chandler, and R. Goldman Glycoprotein disease markers and single protein-omics Mol. Cell. Proteomics 12 2013 836 845
12. H.H. Freeze, E.A. Eklund, B.G. Ng, and M.C. Patterson Neurology of inherited glycosylation disorders Lancet Neurol. 11 2012 453 466
13. T. Hennet Diseases of glycosylation beyond classical congenital disorders of glycosylation Biochim. Biophys. Acta 1820 2012 1306 1317
14. H.H. Freeze, and R.S. Haltiwanger Other Classes of ER/Golgi-derived Glycans A. Varki, R.D. Cummings, J.D. Esko, H.H. Freeze, P. Stanley, C.R. Bertozzi, G.W. Hart, M.E. Etzler, Essentials of Glycobiology Second Edition 2009 Cold Spring Harbor Laboratory Press Cold Spring Harbor 163 173
15. P. Stanley, and R.D. Cummings Structures Common to Different Glycans A. Varki, R.D. Cummings, J.D. Esko, H.H. Freeze, P. Stanley, C.R. Bertozzi, G.W. Hart, M.E. Etzler, Essentials of Glycobiology Second Edition 2009 Cold Spring Harbor Laboratory Press Cold Spring Harbor 175 198
16. H.H. Freeze, and A.D. Elbein Glycosylation Precursors A. Varki, R.D. Cummings, J.D. Esko, H.H. Freeze, P. Stanley, C.R. Bertozzi, G.W. Hart, M.E. Etzler, Essentials of Glycobiology Second Edition 2009 Cold Spring Harbor Laboratory Press Cold Spring Harbor 47 61
17. P. Stanley, H. Schachter, and N. Taniguchi N-Glycans A. Varki, R.D. Cummings, J.D. Esko, H.H. Freeze, P. Stanley, C.R. Bertozzi, G.W. Hart, M.E. Etzler, Essentials of Glycobiology Second Edition 2009 Cold Spring Harbor Laboratory Press Cold Spring Harbor 101 114
18. A. Varki Biological roles of oligosaccharides: all of the theories are correct Glycobiology 3 1993 97 130 (Pubitemid 23132602)
19. C. Steentoft, S.Y. Vakhrushev, H.J. Joshi, Y. Kong, M.B. Vester-Christensen, K.T. Schjoldager, K. Lavrsen, S. Dabelsteen, N.B. Pedersen, and L. Marcos-Silva et al. Precision mapping of the human O-GalNAc glycoproteome through SimpleCell technology EMBO J. 32 2013 1478 1488
20. K. Kato, C. Jeanneau, M.A. Tarp, A. Benet-Pagès, B. Lorenz-Depiereux, E.P. Bennett, U. Mandel, T.M. Strom, and H. Clausen Polypeptide GalNAc-transferase T3 and familial tumoral calcinosis. Secretion of fibroblast growth factor 23 requires O-glycosylation J. Biol. Chem. 281 2006 18370 18377 (Pubitemid 44035494)
21. E. Mercuri, and F. Muntoni The ever-expanding spectrum of congenital muscular dystrophies Ann. Neurol. 72 2012 9 17
22. P.T. Martin Congenital muscular dystrophies involving the O-mannose pathway Curr. Mol. Med. 7 2007 417 425 (Pubitemid 46979705)
23. F. Muntoni, S. Torelli, and M. Brockington Muscular dystrophies due to glycosylation defects Neurotherapeutics 5 2008 627 632
24. S.H. Stalnaker, R. Stuart, and L. Wells Mammalian O-mannosylation: unsolved questions of structure/function Curr. Opin. Struct. Biol. 21 2011 603 609
25. K. Inamori, T. Yoshida-Moriguchi, Y. Hara, M.E. Anderson, L. Yu, and K.P. Campbell Dystroglycan function requires xylosyl- and glucuronyltransferase activities of LARGE Science 335 2012 93 96
26. T. Yoshida-Moriguchi, L. Yu, S.H. Stalnaker, S. Davis, S. Kunz, M. Madson, M.B. Oldstone, H. Schachter, L. Wells, and K.P. Campbell O-mannosyl phosphorylation of alpha-dystroglycan is required for laminin binding Science 327 2010 88 92
27. S. Artavanis-Tsakonas, and M.A. Muskavitch Notch: the past, the present, and the future Curr. Top. Dev. Biol. 92 2010 1 29
28. R. Rampal, K.B. Luther, and R.S. Haltiwanger Notch signaling in normal and disease States: possible therapies related to glycosylation Curr. Mol. Med. 7 2007 427 445 (Pubitemid 46979706)
29. P. Stanley, and T. Okajima Roles of glycosylation in Notch signaling Curr. Top. Dev. Biol. 92 2010 131 164
30. T.Y. Heinonen, and M. Maki Peters'-plus syndrome is a congenital disorder of glycosylation caused by a defect in the beta1,3-glucosyltransferase that modifies thrombospondin type 1 repeats Ann. Med. 41 2009 2 10
31. A. Matsuura, M. Ito, Y. Sakaidani, T. Kondo, K. Murakami, K. Furukawa, D. Nadano, T. Matsuda, and T. Okajima O-linked N-acetylglucosamine is present on the extracellular domain of notch receptors J. Biol. Chem. 283 2008 35486 35495
32. Y. Sakaidani, N. Ichiyanagi, C. Saito, T. Nomura, M. Ito, Y. Nishio, D. Nadano, T. Matsuda, K. Furukawa, and T. Okajima O-linked-N-acetylglucosamine modification of mammalian Notch receptors by an atypical O-GlcNAc transferase Eogt1 Biochem. Biophys. Res. Commun. 419 2012 14 19
33. G.W. Hart, C. Slawson, G. Ramirez-Correa, and O. Lagerlof Cross talk between O-GlcNAcylation and phosphorylation: roles in signaling, transcription, and chronic disease Annu. Rev. Biochem. 80 2011 825 858
34. Y. Maeda, and T. Kinoshita Structural remodeling, trafficking and functions of glycosylphosphatidylinositol-anchored proteins Prog. Lipid Res. 50 2011 411 424
35. T. Kinoshita, Y. Maeda, and M. Fujita Transport of glycosylphosphatidylinositol-anchored proteins from the endoplasmic reticulum Biochim. Biophys. Acta 1833 2013 2473 2478
36. M.A.J. Ferguson, T. Kinoshita, and G.W. Hart Glycosylphosphatidylinositol Anchors A. Varki, R.D. Cummings, J.D. Esko, H.H. Freeze, P. Stanley, C.R. Bertozzi, G.W. Hart, M.E. Etzler, Essentials of Glycobiology Second Edition 2009 Cold Spring Harbor Laboratory Press Cold Spring Harbor 143 161
37. M. Fujita, and T. Kinoshita GPI-anchor remodeling: potential functions of GPI-anchors in intracellular trafficking and membrane dynamics Biochim. Biophys. Acta 1821 2012 1050 1058
38. H.S. Yang, M. Yang, X. Li, S. Tugulea, and H. Dong Diagnosis of paroxysmal nocturnal hemoglobinuria in peripheral blood and bone marrow with six-color flow cytometry Biomarkers Med. 7 2013 99 111
39. J.F. O'Brien Methods for detection of carbohydrate-deficient glycoprotein syndromes Semin. Pediatr. Neurol. 12 2005 159 162 (Pubitemid 43340147)
40. L. Sturiale, R. Barone, and D. Garozzo The impact of mass spectrometry in the diagnosis of congenital disorders of glycosylation J. Inherit. Metab. Dis. 34 2011 891 899
41. A.M. Almeida, Y. Murakami, D.M. Layton, P. Hillmen, G.S. Sellick, Y. Maeda, S. Richards, S. Patterson, I. Kotsianidis, and L. Mollica et al. Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency Nat. Med. 12 2006 846 851 (Pubitemid 44050077)
42. Y. Murakami, N. Kanzawa, K. Saito, P.M. Krawitz, S. Mundlos, P.N. Robinson, A. Karadimitris, Y. Maeda, and T. Kinoshita Mechanism for release of alkaline phosphatase caused by glycosylphosphatidylinositol deficiency in patients with hyperphosphatasia mental retardation syndrome J. Biol. Chem. 287 2012 6318 6325
43. C. Jimenez-Mallebrera, S. Torelli, L. Feng, J. Kim, C. Godfrey, E. Clement, R. Mein, S. Abbs, S.C. Brown, and K.P. Campbell et al. A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severity Brain Pathol. 19 2009 596 611
44. M.A. Haeuptle, and T. Hennet Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides Hum. Mutat. 30 2009 1628 1641
45. E. Schollen, S. Kjaergaard, E. Legius, M. Schwartz, and G. Matthijs Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation in CDG-Ia (congenital disorders of glycosylation type Ia) Eur. J. Hum. Genet. 8 2000 367 371 (Pubitemid 30339341)
46. C. Douillard, K. Mention, D. Dobbelaere, J.L. Wemeau, J.M. Saudubray, and M.C. Vantyghem Hypoglycaemia related to inherited metabolic diseases in adults Orphanet J. Rare Dis. 7 2012 26
47. H.H. Freeze, and V. Sharma Metabolic manipulation of glycosylation disorders in humans and animal models Semin. Cell Dev. Biol. 21 2010 655 662
48. B. Hayee, A. Antonopoulos, E.J. Murphy, F.Z. Rahman, G. Sewell, B.N. Smith, S. McCartney, M. Furman, G. Hall, and S.L. Bloom et al. G6PC3 mutations are associated with a major defect of glycosylation: a novel mechanism for neutrophil dysfunction Glycobiology 21 2011 914 924
49. S. Timal, A. Hoischen, L. Lehle, M. Adamowicz, K. Huijben, J. Sykut-Cegielska, J. Paprocka, E. Jamroz, F.J. van Spronsen, and C. Körner et al. Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing Hum. Mol. Genet. 21 2012 4151 4161
50. L.C. Tegtmeyer, S. Rust, M. van Scherpenzeel, B.G. Ng, M.E. Losfeld, S. Timal, K. Raymond, P. He, M. Ichikawa, and J. Veltman et al. Phosphoglucomutase 1 Deficiency - Clinical Phenotype, Molecular Basis and Treatment N. Engl. J. Med. 2013 10.1056/NEJMoa1206605 Published online February 6, 2014
51. B.G. Ng, K.J. Buckingham, K. Raymond, M. Kircher, E.H. Turner, M. He, J.D. Smith, A. Eroshkin, M. Szybowska, M.E. Losfeld University of Washington Center for Mendelian Genomics Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation Am. J. Hum. Genet. 92 2013 632 636
52. U. Kornak, E. Reynders, A. Dimopoulou, J. van Reeuwijk, B. Fischer, A. Rajab, B. Budde, P. Nürnberg, F. Foulquier, D. Lefeber ARCL Debré-type Study Group Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2 Nat. Genet. 40 2008 32 34
53. B. Fischer, A. Dimopoulou, J. Egerer, T. Gardeitchik, A. Kidd, D. Jost, H. Kayserili, Y. Alanay, I. Tantcheva-Poor, and E. Mangold et al. Further characterization of ATP6V0A2-related autosomal recessive cutis laxa Hum. Genet. 131 2012 1761 1773
54. D. Demaegd, F. Foulquier, A.S. Colinet, L. Gremillon, D. Legrand, P. Mariot, E. Peiter, E. Van Schaftingen, G. Matthijs, and P. Morsomme Newly characterized Golgi-localized family of proteins is involved in calcium and pH homeostasis in yeast and human cells Proc. Natl. Acad. Sci. USA 110 2013 6859 6864
55. H.H. Freeze, and B.G. Ng Golgi glycosylation and human inherited diseases Cold Spring Harb. Perspect. Biol. 3 2011 a005371
56. A. Rivinoja, F.M. Pujol, A. Hassinen, and S. Kellokumpu Golgi pH, its regulation and roles in human disease Ann. Med. 44 2012 542 554
57. A.G. Engel, K. Ohno, and S.M. Sine Congenital myasthenic syndromes: recent advances Arch. Neurol. 56 1999 163 167 (Pubitemid 29076180)
58. S. Muppidi, G.I. Wolfe, and R.J. Barohn Disease of the Neuromuscular Junction K.F. Swaiman, S. Ashwal, D.M. Ferriero, N.F. Schor, Swaiman's Pediatric Neurology Fifth Edition 2012 Saunders China 1549 1569
59. J. Senderek, J.S. Müller, M. Dusl, T.M. Strom, V. Guergueltcheva, I. Diepolder, S.H. Laval, S. Maxwell, J. Cossins, and S. Krause et al. Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect Am. J. Hum. Genet. 88 2011 162 172
60. A.G. Engel, X.M. Shen, D. Selcen, and S. Sine New horizons for congenital myasthenic syndromes Ann. N Y Acad. Sci. 1275 2012 54 62
61. K. Zoltowska, R. Webster, S. Finlayson, S. Maxwell, J. Cossins, J. Müller, H. Lochmüller, and D. Beeson Mutations in GFPT1 that underlie limb-girdle congenital myasthenic syndrome result in reduced cell-surface expression of muscle AChR Hum. Mol. Genet. 22 2013 2905 2913
62. K. Belaya, S. Finlayson, C.R. Slater, J. Cossins, W.W. Liu, S. Maxwell, S.J. McGowan, S. Maslau, S.R. Twigg, and T.J. Walls et al. Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates Am. J. Hum. Genet. 91 2012 193 201
63. X. Wu, J.S. Rush, D. Karaoglu, D. Krasnewich, M.S. Lubinsky, C.J. Waechter, R. Gilmore, and H.H. Freeze Deficiency of UDP-GlcNAc:Dolichol Phosphate N-Acetylglucosamine-1 Phosphate Transferase (DPAGT1) causes a novel congenital disorder of Glycosylation Type Ij Hum. Mutat. 22 2003 144 150 (Pubitemid 36950812)
64. I.A. Carrera, G. Matthijs, B. Perez, and C.P. Cerdá DPAGT1-CDG: report of a patient with fetal hypokinesia phenotype Am. J. Med. Genet. A. 158A 2012 2027 2030
65. J. Cossins, K. Belaya, D. Hicks, M.A. Salih, S. Finlayson, N. Carboni, W.W. Liu, S. Maxwell, K. Zoltowska, G.T. Farsani WGS500 Consortium Congenital myasthenic syndromes due to mutations in ALG2 and ALG14 Brain 136 2013 944 956
66. J. Lu, T. Takahashi, A. Ohoka, K. Nakajima, R. Hashimoto, N. Miura, H. Tachikawa, and X.D. Gao Alg14 organizes the formation of a multiglycosyltransferase complex involved in initiation of lipid-linked oligosaccharide biosynthesis Glycobiology 22 2012 504 516
67. X.D. Gao, H. Tachikawa, T. Sato, Y. Jigami, and N. Dean Alg14 recruits Alg13 to the cytoplasmic face of the endoplasmic reticulum to form a novel bipartite UDP-N-acetylglucosamine transferase required for the second step of N-linked glycosylation J. Biol. Chem. 280 2005 36254 36262 (Pubitemid 41633898)
68. X.D. Gao, A. Nishikawa, and N. Dean Physical interactions between the Alg1, Alg2, and Alg11 mannosyltransferases of the endoplasmic reticulum Glycobiology 14 2004 559 570 (Pubitemid 38868270)
69. H. Houlden Defective N-linked protein glycosylation pathway in congenital myasthenic syndromes Brain 136 2013 692 695
70. C. Godfrey, A.R. Foley, E. Clement, and F. Muntoni Dystroglycanopathies: coming into focus Curr. Opin. Genet. Dev. 21 2011 278 285
71. M.C. Manzini, D.E. Tambunan, R.S. Hill, T.W. Yu, T.M. Maynard, E.L. Heinzen, K.V. Shianna, C.R. Stevens, J.N. Partlow, and B.J. Barry et al. Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome Am. J. Hum. Genet. 91 2012 541 547
72. S. Vuillaumier-Barrot, C. Bouchet-Séraphin, M. Chelbi, L. Devisme, S. Quentin, S. Gazal, A. Laquerrière, C. Fallet-Bianco, P. Loget, and S. Odent et al. Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly Am. J. Hum. Genet. 91 2012 1135 1143
73. T. Yoshida-Moriguchi, T. Willer, M.E. Anderson, D. Venzke, T. Whyte, F. Muntoni, H. Lee, S.F. Nelson, L. Yu, and K.P. Campbell SGK196 is a glycosylation-specific O-mannose kinase required for dystroglycan function Science 341 2013 896 899
74. T. Willer, H. Lee, M. Lommel, T. Yoshida-Moriguchi, D.B. de Bernabe, D. Venzke, S. Cirak, H. Schachter, J. Vajsar, and T. Voit et al. ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome Nat. Genet. 44 2012 575 580
75. T. Roscioli, E.J. Kamsteeg, K. Buysse, I. Maystadt, J. van Reeuwijk, C. van den Elzen, E. van Beusekom, M. Riemersma, R. Pfundt, and L.E. Vissers et al. Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan Nat. Genet. 44 2012 581 585
76. C. Kranz, C. Jungeblut, J. Denecke, A. Erlekotte, C. Sohlbach, V. Debus, H.G. Kehl, E. Harms, A. Reith, and S. Reichel et al. A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy Am. J. Hum. Genet. 80 2007 433 440
77. D.J. Lefeber, A.P. de Brouwer, E. Morava, M. Riemersma, J.H. Schuurs-Hoeijmakers, B. Absmanner, K. Verrijp, W.M. van den Akker, K. Huijben, and G. Steenbergen et al. Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation PLoS Genet. 7 2011 e1002427
78. Y. Maeda, S. Tanaka, J. Hino, K. Kangawa, and T. Kinoshita Human dolichol-phosphate-mannose synthase consists of three subunits, DPM1, DPM2 and DPM3 EMBO J. 19 2000 2475 2482 (Pubitemid 30323537)
79. R. Barone, C. Aiello, V. Race, E. Morava, F. Foulquier, M. Riemersma, C. Passarelli, D. Concolino, M. Carella, and F. Santorelli et al. DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy Ann. Neurol. 72 2012 550 558
80. D.J. Lefeber, J. Schönberger, E. Morava, M. Guillard, K.M. Huyben, K. Verrijp, O. Grafakou, A. Evangeliou, F.W. Preijers, and P. Manta et al. Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies Am. J. Hum. Genet. 85 2009 76 86
81. A.C. Yang, B.G. Ng, S.A. Moore, J. Rush, C.J. Waechter, K.M. Raymond, T. Willer, K.P. Campbell, H.H. Freeze, and L. Mehta Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy Mol. Genet. Metab. 110 2013 345 351
82. L.T. Jae, M. Raaben, M. Riemersma, E. van Beusekom, V.A. Blomen, A. Velds, R.M. Kerkhoven, J.E. Carette, H. Topaloglu, and P. Meinecke et al. Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry Science 340 2013 479 483
83. W. Cao, M.D. Henry, P. Borrow, H. Yamada, J.H. Elder, E.V. Ravkov, S.T. Nichol, R.W. Compans, K.P. Campbell, and M.B. Oldstone Identification of alpha-dystroglycan as a receptor for lymphocytic choriomeningitis virus and Lassa fever virus Science 282 1998 2079 2081 (Pubitemid 29001263)
84. S. Kunz, J.M. Rojek, M. Kanagawa, C.F. Spiropoulou, R. Barresi, K.P. Campbell, and M.B. Oldstone Posttranslational modification of alpha-dystroglycan, the cellular receptor for arenaviruses, by the glycosyltransferase LARGE is critical for virus binding J. Virol. 79 2005 14282 14296 (Pubitemid 41552726)
85. R.E. Ware, W.F. Rosse, and T.A. Howard Mutations within the Piga gene in patients with paroxysmal nocturnal hemoglobinuria Blood 83 1994 2418 2422 (Pubitemid 24135831)
86. J.J. Johnston, A.L. Gropman, J.C. Sapp, J.K. Teer, J.M. Martin, C.F. Liu, X. Yuan, Z. Ye, L. Cheng, R.A. Brodsky, and L.G. Biesecker The phenotype of a germline mutation in PIGA: the gene somatically mutated in paroxysmal nocturnal hemoglobinuria Am. J. Hum. Genet. 90 2012 295 300
87. B.G. Ng, K. Hackmann, M.A. Jones, A.M. Eroshkin, P. He, R. Wiliams, S. Bhide, V. Cantagrel, J.G. Gleeson, and A.S. Paller et al. Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome Am. J. Hum. Genet. 90 2012 685 688
88. Y. Maeda, R. Watanabe, C.L. Harris, Y. Hong, K. Ohishi, K. Kinoshita, and T. Kinoshita PIG-M transfers the first mannose to glycosylphosphatidylinositol on the lumenal side of the ER EMBO J. 20 2001 250 261 (Pubitemid 32099121)
89. A.M. Almeida, Y. Murakami, A. Baker, Y. Maeda, I.A. Roberts, T. Kinoshita, D.M. Layton, and A. Karadimitris Targeted therapy for inherited GPI deficiency N. Engl. J. Med. 356 2007 1641 1647 (Pubitemid 46631673)
90. G. Maydan, I. Noyman, A. Har-Zahav, Z.B. Neriah, M. Pasmanik-Chor, A. Yeheskel, A. Albin-Kaplanski, I. Maya, N. Magal, and E. Birk et al. Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN J. Med. Genet. 48 2011 383 389
91. P.M. Krawitz, M.R. Schweiger, C. Rödelsperger, C. Marcelis, U. Kölsch, C. Meisel, F. Stephani, T. Kinoshita, Y. Murakami, and S. Bauer et al. Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome Nat. Genet. 42 2010 827 829
92. P.M. Krawitz, Y. Murakami, J. Hecht, U. Krüger, S.E. Holder, G.R. Mortier, B. Delle Chiaie, E. De Baere, M.D. Thompson, and T. Roscioli et al. Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation Am. J. Hum. Genet. 91 2012 146 151
93. P.M. Krawitz, Y. Murakami, A. Rieß, M. Hietala, U. Krüger, N. Zhu, T. Kinoshita, S. Mundlos, J. Hecht, P.N. Robinson, and D. Horn PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome Am. J. Hum. Genet. 92 2013 584 589
94. L. Hansen, H. Tawamie, Y. Murakami, Y. Mang, S. ur Rehman, R. Buchert, S. Schaffer, S. Muhammad, M. Bak, and M.M. Nöthen et al. Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability Am. J. Hum. Genet. 92 2013 575 583
95. M. Kvarnung, D. Nilsson, A. Lindstrand, G.C. Korenke, S.C. Chiang, E. Blennow, M. Bergmann, T. Stödberg, O. Mäkitie, and B.M. Anderlid et al. A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT J. Med. Genet. 50 2013 521 528
96. M. Li, R. Cheng, J. Liang, H. Yan, H. Zhang, L. Yang, C. Li, Q. Jiao, Z. Lu, and J. He et al. Mutations in POFUT1, Encoding Protein O-fucosyltransferase 1, Cause Generalized Dowling-Degos Disease Am. J. Hum. Genet. 92 2013 895 903
97. D. Yao, Y. Huang, X. Huang, W. Wang, Q. Yan, L. Wei, W. Xin, S. Gerson, P. Stanley, J.B. Lowe, and L. Zhou Protein O-fucosyltransferase 1 (Pofut1) regulates lymphoid and myeloid homeostasis through modulation of Notch receptor ligand interactions Blood 117 2011 5652 5662
98. Q. Yan, D. Yao, L.L. Wei, Y. Huang, J. Myers, L. Zhang, W. Xin, J. Shim, Y. Man, and B. Petryniak et al. O-fucose modulates Notch-controlled blood lineage commitment Am. J. Pathol. 176 2010 2921 2934
99. K. Schuster-Gossler, B. Harris, K.R. Johnson, J. Serth, and A. Gossler Notch signalling in the paraxial mesoderm is most sensitive to reduced Pofut1 levels during early mouse development BMC Dev. Biol. 9 2009 6
100. R. Shaheen, M. Aglan, K. Keppler-Noreuil, E. Faqeih, S. Ansari, K. Horton, A. Ashour, M.S. Zaki, F. Al-Zahrani, and A.M. Cueto-González et al. Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome Am. J. Hum. Genet. 92 2013 598 604
101. C. Slawson, and G.W. Hart O-GlcNAc signalling: implications for cancer cell biology Nat. Rev. Cancer 11 2011 678 684
102. Y. Choi, G.E. Sims, S. Murphy, J.R. Miller, and A.P. Chan Predicting the functional effect of amino acid substitutions and indels PLoS ONE 7 2012 e46688
103. G.M. Cooper, E.A. Stone, G. Asimenos, E.D. Green, S. Batzoglou, A. Sidow NISC Comparative Sequencing Program Distribution and intensity of constraint in mammalian genomic sequence Genome Res. 15 2005 901 913 (Pubitemid 40994210)
104. I.A. Adzhubei, S. Schmidt, L. Peshkin, V.E. Ramensky, A. Gerasimova, P. Bork, A.S. Kondrashov, and S.R. Sunyaev A method and server for predicting damaging missense mutations Nat. Methods 7 2010 248 249