LINC complexes in health and disease

Nucleus

Volumn 1, Issue 1, 2010, Pages 40-52

  Méjat, Alexandre ^a,b   Misteli, Tom ^a  

^a NATIONAL CANCER INSTITUTE   (United States)

^b UNIVERSITÉ DE LYON   (France)

Author keywords

EDMD; Lamins A C; LINC; LMNA; Nesprins; SUN

Indexed keywords

MEMBRANE PROTEIN; NUCLEOPLASMIN;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE DISORDER; BARRAQUER SIMONS SYNDROME; CELL FUNCTION; CELL MIGRATION; CELL NUCLEUS; CELL NUCLEUS MEMBRANE; CEREBELLAR ATAXIA; COMPLEX FORMATION; CONGESTIVE CARDIOMYOPATHY; CYTOPLASM; CYTOSKELETON; DIABETES MELLITUS; EMERY DREIFUSS MUSCULAR DYSTROPHY; FAMILIAL PARTIAL LIPODYSTROPHY; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; LAMINA PROPRIA; LEUKODYSTROPHY; LIMB GIRDLE MUSCULAR DYSTROPHY; LIPOATROPHY; MANDIBULOACRAL DYSPLASIA; MECHANOTRANSDUCTION; MEIOSIS; MUSCULAR DYSTROPHY; NEUROMUSCULAR SYNAPSE; NONHUMAN; PROGERIA; PROTEIN INTERACTION; PROTEIN TRANSPORT; SIGNAL TRANSDUCTION; SKIN DISEASE; WERNER SYNDROME;

EID: 77957678443     PISSN: 19491034     EISSN: 19491042     Source Type: Journal    
DOI: 10.4161/nucl.1.1.10530     Document Type: Article

References (140)

1. Bione S, Maestrini E, Rivella S, Mancini M, Regis S, Romeo G, et al. Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. Nat Genet 1994; 8:39-41.
2. Emery AE, Dreifuss FE. Unusual type of benign x-linked muscular dystrophy. J Neurol Neurosurg Psychiatry 1966; 29:338-342.
3. Cohn RD, Campbell KP. Molecular basis of muscular dystrophies. Muscle Nerve 2000; 23:1456-1471.
4. Manilal S, Nguyen TM, Sewry CA, Morris GE. The Emery-Dreifuss muscular dystrophy protein, emerin, is a nuclear membrane protein. Hum Mol Genet 1996; 5:801-808.
5. Yorifuji H, Tadano Y, Tsuchiya Y, Ogawa M, Goto K, Umetani A, et al. Emerin, deficiency of which causes Emery-Dreifuss muscular dystrophy, is localized at the inner nuclear membrane. Neurogenetics 1997; 1:135-140.
6. Worman HJ, Bonne G. "Laminopathies": a wide spectrum of human diseases. Exp Cell Res 2007; 313:2121-2133.
7. Rowat AC, Lammerding J, Herrmann H, Aebi U. Towards an integrated understanding of the structure and mechanics of the cell nucleus. Bioessays 2008; 30:226-236.
8. Chakalova L, Debrand E, Mitchell JA, Osborne CS, Fraser P. Replication and transcription: shaping the landscape of the genome. Nat Rev Genet 2005; 6:669-677.
9. Zastrow MS, Vlcek S, Wilson KL. Proteins that bind A-type lamins: integrating isolated clues. J Cell Sci 2004; 117:979-987.
10. Morris GE. Nuclear proteins and cell death in inherited neuromuscular disease. Neuromuscul Disord 2000; 10:217-227.
11. Burke B, Stewart CL. Life at the edge: the nuclear envelope and human disease. Nat Rev Mol Cell Biol 2002; 3:575-585.
12. Muchir A, Pavlidis P, Bonne G, Hayashi YK, Worman HJ. Activation of MAPK in hearts of EMD null mice: similarities between mouse models of X-linked and autosomal dominant Emery Dreifuss muscular dystrophy. Hum Mol Genet 2007; 16:1884-1895.
13. Muchir A, Pavlidis P, Decostre V, Herron AJ, Arimura T, Bonne G, et al. Activation of MAPK pathways links LMNA mutations to cardiomyopathy in Emery-Dreifuss muscular dystrophy. J Clin Invest 2007; 117:1282-1293.
14. Zhang Q, Bethmann C, Worth NF, Davies JD, Wasner C, Feuer A, et al. Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity. Hum Mol Genet 2007; 16:2816-2833.
15. Wagner N, Krohne G. LEM-Domain proteins: new insights into lamin-interacting proteins. Int Rev Cytol 2007; 261:1-46.
16. Ben-Harush K, Wiesel N, Frenkiel-Krispin D, Moeller D, Soreq E, Aebi U, et al. The supramolecular organization of the C. elegans nuclear lamin filament. J Mol Biol 2009; 386:1392-1402.
17. Liu J, Rolef Ben-Shahar T, Riemer D, Treinin M, Spann P, et al. Essential roles for Caenorhabditis elegans lamin gene in nuclear organization, cell cycle progression, and spatial organization of nuclear pore complexes. Mol Biol Cell 2000; 11:3937-3947.
18. Biamonti G, Giacca M, Perini G, Contreas G, Zentilin L, Weighardt F, et al. The gene for a novel human lamin maps at a highly transcribed locus of chromosome 19 which replicates at the onset of S-phase. Mol Cell Biol 1992; 12:3499-3506.
19. Lin F, Worman HJ. Structural organization of the human gene encoding nuclear lamin A and nuclear lamin C. J Biol Chem 1993; 268:16321-16326.
20. Furukawa K, Inagaki H, Hotta Y. Identification and cloning of an mRNA coding for a germ cell-specific A-type lamin in mice. Exp Cell Res 1994; 212:426-430.
21. Machiels BM, Zorenc AH, Endert JM, Kuijpers HJ, van Eys GJ, Ramaekers FC, et al. An alternative splicing product of the lamin A/C gene lacks exon 10. J Biol Chem 1996; 271:9249-9253.
22. Harborth J, Elbashir SM, Bechert K, Tuschl T, Weber K. Identification of essential genes in cultured mammalian cells using small interfering RNAs. J Cell Sci 2001; 114:4557-4565.
23. Broers JL, Machiels BM, Kuijpers HJ, Smedts F, van den Kieboom R, Raymond Y, et al. A- and B-type lamins are differentially expressed in normal human tissues. Histochem Cell Biol 1997; 107:505-517.
24. Lin F, Worman HJ. Structural organization of the human gene (LMNB1) encoding nuclear lamin B1. Genomics 1995; 27:230-236.
25. Furukawa K, Hotta Y. cDNA cloning of a germ cell specific lamin B3 from mouse spermatocytes and analysis of its function by ectopic expression in somatic cells. EMBO J 1993; 12:97-106.
26. Worman HJ, Yuan J, Blobel G, Georgatos SD. A lamin B receptor in the nuclear envelope. Proc Natl Acad Sci USA 1988; 85:8531-8534.
27. Foisner R, Gerace L. Integral membrane proteins of the nuclear envelope interact with lamins and chromosomes, and binding is modulated by mitotic phosphorylation. Cell 1993; 73:1267-1279.
28. Lin F, Blake DL, Callebaut I, Skerjanc IS, Holmer L, McBurney MW, et al. MAN1, an inner nuclear membrane protein that shares the LEM domain with lamina-associated polypeptide 2 and emerin. J Biol Chem 2000; 275:4840-4847.
29. Bione S, Small K, Aksmanovic VM, D'Urso M, Ciccodicola A, Merlini L, et al. Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease. Hum Mol Genet 1995; 4:1859-1863.
30. Nagano A, Koga R, Ogawa M, Kurano Y, Kawada J, Okada R, et al. Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy. Nat Genet 1996; 12:254-259.
31. Manilal S, Nguyen TM, Morris GE. Colocalization of emerin and lamins in interphase nuclei and changes during mitosis. Biochem Biophys Res Commun 1998; 249:643-647.
32. Clements L, Manilal S, Love DR, Morris GE. Direct interaction between emerin and lamin A. Biochem Biophys Res Commun 2000; 267:709-714.
33. Cartegni L, di Barletta MR, Barresi R, Squarzoni S, Sabatelli P, Maraldi N, et al. Heart-specific localization of emerin: new insights into Emery-Dreifuss muscular dystrophy. Hum Mol Genet 1997; 6:2257-2264.
34. Manilal S, Sewry CA, Pereboev A, Man N, Gobbi P, Hawkes S, et al. Distribution of emerin and lamins in the heart and implications for Emery-Dreifuss muscular dystrophy. Hum Mol Genet 1999; 8:353-359.
35. Ellis JA, Craxton M, Yates JR, Kendrick-Jones J. Aberrant intracellular targeting and cell cycle-dependent phosphorylation of emerin contribute to the Emery-Dreifuss muscular dystrophy phenotype. J Cell Sci 1998; 111:781-792.
36. Vaughan A, Alvarez-Reyes M, Bridger JM, Broers JL, Ramaekers FC, Wehnert M, et al. Both emerin and lamin C depend on lamin A for localization at the nuclear envelope. J Cell Sci 2001; 114:2577-2590.
37. Ellis JA, Yates JR, Kendrick-Jones J, Brown CA. Changes at P183 of emerin weaken its protein-protein interactions resulting in X-linked Emery-Dreifuss muscular dystrophy. Hum Genet 1999; 104:262-268.
38. Manilal S, Recan D, Sewry CA, Hoeltzenbein M, Llense S, Leturcq F, et al. Mutations in Emery-Dreifuss muscular dystrophy and their effects on emerin protein expression. Hum Mol Genet 1998; 7:855-864.
39. Dreger M, Bengtsson L, Schoneberg T, Otto H, Hucho F. Nuclear envelope proteomics: novel integral membrane proteins of the inner nuclear membrane. Proc Natl Acad Sci USA 2001; 98:11943-1198.
40. Schirmer EC, Florens L, Guan T, Yates JR 3rd, Gerace L. Nuclear membrane proteins with potential disease links found by subtractive proteomics. Science 2003; 301:1380-1382.
41. Malone CJ, Fixsen WD, Horvitz HR, Han M. UNC-84 localizes to the nuclear envelope and is required for nuclear migration and anchoring during C. elegans development. Development 1999; 126:3171-3181.
42. + associates with the fission yeast spindle pole body and is essential for viability. J Cell Biol 1995; 129:1033-1047.
43. Jaspersen SL, Martin AE, Glazko G, Giddings TH Jr, Morgan G, Mushegian A, et al. The Sad1-UNC-84 homology domain in Mps3 interacts with Mps2 to connect the spindle pole body with the nuclear envelope. J Cell Biol 2006; 174:665-675.
44. Kracklauer MP, Banks SM, Xie X, Wu Y, Fischer JA. Drosophila klaroid encodes a SUN domain protein required for Klarsicht localization to the nuclear envelope and nuclear migration in the eye. Fly 2007; 1:75-85.
45. Moriguchi K, Suzuki T, Ito Y, Yamazaki Y, Niwa Y, Kurata N. Functional isolation of novel nuclear proteins showing a variety of subnuclear localizations. Plant Cell 2005; 17:389-403.
46. Starr DA, Fischer JA. KASH 'n Karry: the KASH domain family of cargo-specific cytoskeletal adaptor proteins. Bioessays 2005; 27:1136-1146.
47. Crisp M, Liu Q, Roux K, Rattner JB, Shanahan C, Burke B, et al. Coupling of the nucleus and cytoplasm: role of the LINC complex. J Cell Biol 2006; 172:41-53.
48. Shao X, Tarnasky HA, Lee JP, Oko R, van der Hoorn FA. Spag4, a novel sperm protein, binds outer densefiber protein Odf1 and localizes to microtubules of manchette and axoneme. Dev Biol 1999; 211:109-123.
49. Tzur YB, Wilson KL, Gruenbaum Y. SUN-domain proteins: 'Velcro' that links the nucleoskeleton to the cytoskeleton. Nat Rev Mol Cell Biol 2006; 7:782-788.
50. Worman HJ, Gundersen GG. Here come the SUNs: a nucleocytoskeletal missing link. Trends Cell Biol 2006; 16:67-69.
51. Hodzic DM, Yeater DB, Bengtsson L, Otto H, Stahl PD. Sun2 is a novel mammalian inner nuclear membrane protein. J Biol Chem 2004; 279:25805-25812.
52. Padmakumar VC, Libotte T, Lu W, Zaim H, Abraham S, Noegel AA, et al. The inner nuclear membrane protein Sun1 mediates the anchorage of Nesprin-2 to the nuclear envelope. J Cell Sci 2005; 118:3419-3430.
53. Wang Q, Du X, Cai Z, Greene MI. Characterization of the structures involved in localization of the SUN proteins to the nuclear envelope and the centrosome. DNA Cell Biol 2006; 25:554-562.
54. Haque F, Lloyd DJ, Smallwood DT, Dent CL, Shanahan CM, Fry AM, et al. SUN1 interacts with nuclear lamin A and cytoplasmic nesprins to provide a physical connection between the nuclear lamina and the cytoskeleton. Mol Cell Biol 2006; 26:3738-3751.
55. Zhang Q, Ragnauth C, Greener MJ, Shanahan CM, Roberts RG. The nesprins are giant actin-binding proteins, orthologous to Drosophila melanogaster muscle protein MSP-300. Genomics 2002; 80:473-481.
56. Warren DT, Zhang Q, Weissberg PL, Shanahan CM. Nesprins: intracellular scaffolds that maintain cell architecture and coordinate cell function? Expert Rev Mol Med 2005; 7:1-15.
57. Wilhelmsen K, Litjens SH, Kuikman I, Tshimbalanga N, Janssen H, van den Bout I, et al. Nesprin-3, a novel outer nuclear membrane protein, associates with the cytoskeletal linker protein plectin. J Cell Biol 2005; 171:799-810.
58. Zhen YY, Libotte T, Munck M, Noegel AA, Korenbaum E. NUANCE, a giant protein connecting the nucleus and actin cytoskeleton. J Cell Sci 2002; 115:3207-3222.
59. Roux KJ, Crisp ML, Liu Q, Kim D, Kozlov S, Stewart CL, et al. Nesprin 4 is an outer nuclear membrane protein that can induce kinesin-mediated cell polarization. Proc Natl Acad Sci USA 2009; 106:2194-2199.
60. Zhang Q, Ragnauth CD, Skepper JN, Worth NF, Warren DT, Roberts RG, et al. Nesprin-2 is a multiisomeric protein that binds lamin and emerin at the nuclear envelope and forms a subcellular network in skeletal muscle. J Cell Sci 2005; 118:673-687.
61. Apel ED, Lewis RM, Grady RM, Sanes JR. Syne-1, a dystrophin- and Klarsicht-related protein associated with synaptic nuclei at the neuromuscular junction. J Biol Chem 2000; 275:31986-1995.
62. Mislow JM, Kim MS, Davis DB, McNally EM. Myne-1, a spectrin repeat transmembrane protein of the myocyte inner nuclear membrane, interacts with lamin A/C. J Cell Sci 2002; 115:61-70.
63. Mislow JM, Holaska JM, Kim MS, Lee KK, Segura-Totten M, Wilson KL, et al. Nesprin-1alpha selfassociates and binds directly to emerin and lamin A in vitro. FEBS Lett 2002; 525:135-140.
64. Malone CJ, Misner L, Le Bot N, Tsai MC, Campbell JM, Ahringer J, et al. The C. elegans hook protein, ZYG-12, mediates the essential attachment between the centrosome and nucleus. Cell 2003; 115:825-836.
65. Starr DA, Hermann GJ, Malone CJ, Fixsen W, Priess JR, Horvitz HR, et al. unc-83 encodes a novel component of the nuclear envelope and is essential for proper nuclear migration. Development 2001; 128:5039-5050.
66. Starr DA, Han M. Role of ANC-1 in tethering nuclei to the actin cytoskeleton. Science 2002; 298:406-409.
67. Fischer-Vize JA, Mosley KL. Marbles mutants: uncoupling cell determination and nuclear migration in the developing Drosophila eye. Development 1994; 120:2609-2618.
68. Rosenberg-Hasson Y, Renert-Pasca M, Volk T. A Drosophila dystrophin-related protein, MSP-300, is required for embryonic muscle morphogenesis. Mech Dev 1996; 60:83-94.
69. McGee MD, Rillo R, Anderson AS, Starr DA. UNC-83 IS a KASH protein required for nuclear migration and is recruited to the outer nuclear membrane by a physical interaction with the SUN protein UNC-84. Mol Biol Cell 2006; 17:1790-1801.
70. Lee KK, Starr D, Cohen M, Liu J, Han M, Wilson KL, et al. Lamin-dependent localization of UNC-84, a protein required for nuclear migration in Caenorhabditis elegans. Mol Biol Cell 2002; 13:892-901.
71. Mejat A, Decostre V, Li J, Renou L, Kesari A, Hantai D, et al. Lamin A/C-mediated neuromuscular junction defects in Emery-Dreifuss muscular dystrophy. J Cell Biol 2009; 184:31-44.
72. Liu Q, Pante N, Misteli T, Elsagga M, Crisp M, Hodzic D, et al. Functional association of Sun1 with nuclear pore complexes. J Cell Biol 2007; 178:785-798.
73. Stewart-Hutchinson PJ, Hale CM, Wirtz D, Hodzic D. Structural requirements for the assembly of LINC complexes and their function in cellular mechanical stiffness. Exp Cell Res 2008; 314:1892-1905.
74. Grady RM, Starr DA, Ackerman GL, Sanes JR, Han M. Syne proteins anchor muscle nuclei at the neuromuscular junction. Proc Natl Acad Sci USA 2005; 102:4359-4364.
75. Technau M, Roth S. The Drosophila KASH domain proteins Msp-300 and Klarsicht and the SUN domain protein klaroid have no essential function during oogenesis. Fly (Austin) 2008; 2.
76. Dechat T, Gajewski A, Korbei B, Gerlich D, Daigle N, Haraguchi T, et al. LAP2alpha and BAF transiently localize to telomeres and specific regions on chromatin during nuclear assembly. J Cell Sci 2004; 117:6117-6128.
77. Scherthan H. A bouquet makes ends meet. Nat Rev Mol Cell Biol 2001; 2:621-627.
78. Chikashige Y, Tsutsumi C, Yamane M, Okamasa K, Haraguchi T, Hiraoka Y. Meiotic proteins bqt1 and bqt2 tether telomeres to form the bouquet arrangement of chromosomes. Cell 2006; 125:59-69.
79. +, is required for the formation of meiotic prophase-specific nuclear architecture. Mol Gen Genet 1997; 254:238-249.
80. Miki F, Kurabayashi A, Tange Y, Okazaki K, Shimanuki M, Niwa O. Two-hybrid search for proteins that interact with Sad1 and Kms1, two membrane-bound components of the spindle pole body in fission yeast. Mol Genet Genomics 2004; 270:449-461.
81. Conrad MN, Lee CY, Chao G, Shinohara M, Kosaka H, Shinohara A, et al. Rapid telomere movement in meiotic prophase is promoted by NDJ1, MPS3 and CSM4 and is modulated by recombination. Cell 2008; 133:1175-1187.
82. Bupp JM, Martin AE, Stensrud ES, Jaspersen SL. Telomere anchoring at the nuclear periphery requires the budding yeast Sad1-UNC-84 domain protein Mps3. J Cell Biol 2007; 179:845-854.
83. Fridkin A, Penkner A, Jantsch V, Gruenbaum Y. SUN-domain and KASH-domain proteins during development, meiosis and disease. Cell Mol Life Sci 2009; 66:1518-1533.
84. Penkner A, Tang L, Novatchkova M, Ladurner M, Fridkin A, Gruenbaum Y, et al. The nuclear envelope protein Matefin/SUN-1 is required for homologous pairing in C. elegans meiosis. Dev Cell 2007; 12:873-885.
85. McGee MD, Stagljar I, Starr DA. KDP-1 is a nuclear envelope KASH protein required for cell cycle progression. J Cell Sci 2009; 122:2895-2905.
86. Ottaviani A, Rival-Gervier S, Boussouar A, Foerster AM, Rondier D, Sacconi S, et al. The D4Z4 macrosatellite repeat acts as a CTCF and A-type laminsdependent insulator in facio-scapulo-humeral dystrophy. PLoS Genet 2009; 5:1000394.
87. Ottaviani A, Schluth-Bolard C, Rival-Gervier S, Boussouar A, Rondier D, Foerster AM, et al. Identification of a perinuclear positioning element in human subtelomeres that requires A-type lamins and CTCF. EMBO J 2009; 28:2428-2436.
88. Gonzalez-Suarez I, Redwood AB, Perkins SM, Vermolen B, Lichtensztejin D, Grotsky DA, et al. Novel roles for A-type lamins in telomere biology and the DNA damage response pathway. EMBO J 2009; 28:2414-2427.
89. Ding X, Xu R, Yu J, Xu T, Zhuang Y, Han M. SUN1 is required for telomere attachment to nuclear envelope and gametogenesis in mice. Dev Cell 2007; 12:863-872.
90. Schmitt J, Benavente R, Hodzic D, Hoog C, Stewart CL, Alsheimer M. Transmembrane protein Sun2 is involved in tethering mammalian meiotic telomeres to the nuclear envelope. Proc Natl Acad Sci USA 2007; 104:7426-7431.
91. Lei K, Zhang X, Ding X, Guo X, Chen M, Zhu B, et al. SUN1 and SUN2 play critical but partially redundant roles in anchoring nuclei in skeletal muscle cells in mice. Proc Natl Acad Sci USA 2009; 106:10207-10212.
92. King MC, Drivas TG, Blobel G. A network of nuclear envelope membrane proteins linking centromeres to microtubules. Cell 2008; 134:427-438.
93. Munoz-Centeno MC, McBratney S, Monterrosa A, Byers B, Mann C, Winey M. Saccharomyces cerevisiae MPS2 encodes a membrane protein localized at the spindle pole body and the nuclear envelope. Mol Biol Cell 1999; 10:2393-2406.
94. Schramm C, Elliott S, Shevchenko A, Schiebel E. The Bbp1p-Mps2p complex connects the SPB to the nuclear envelope and is essential for SPB duplication. EMBO J 2000; 19:421-433.
95. Salpingidou G, Smertenko A, Hausmanowa-Petrucewicz I, Hussey PJ, Hutchison CJ. A novel role for the nuclear membrane protein emerin in association of the centrosome to the outer nuclear membrane. J Cell Biol 2007; 178:897-904.
96. Hale CM, Shrestha AL, Khatau SB, Stewart-Hutchinson PJ, Hernandez L, Stewart CL, et al. Dysfunctional connections between the nucleus and the actin and microtubule networks in laminopathic models. Biophys J 2008; 95:5462-5475.
97. Lee SE, Kim JH, Kim NH. Inactivation of MAPK affects centrosome assembly, but not actin filament assembly, in mouse oocytes maturing in vitro. Mol Reprod Dev 2007; 74:904-911.
98. Dawe HR, Adams M, Wheway G, Szymanska K, Logan CV, Noegel AA, et al. Nesprin-2 interacts with meckelin and mediates ciliogenesis via remodelling of the actin cytoskeleton. J Cell Sci 2009; 122:2716-2726.
99. Dawe HR, Smith UM, Cullinane AR, Gerrelli D, Cox P, Badano JL, et al. The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation. Hum Mol Genet 2007; 16:173-186.
100. Maniotis AJ, Chen CS, Ingber DE. Demonstration of mechanical connections between integrins, cytoskeletal filaments and nucleoplasm that stabilize nuclear structure. Proc Natl Acad Sci USA 1997; 94:849-854.
101. Wang N, Tytell JD, Ingber DE. Mechanotransduction at a distance: mechanically coupling the extracellular matrix with the nucleus. Nat Rev Mol Cell Biol 2009; 10:75-82.
102. Rowat AC, Lammerding J, Ipsen JH. Mechanical properties of the cell nucleus and the effect of emerin deficiency. Biophys J 2006; 91:4649-4664.
103. Lammerding J, Fong LG, Ji JY, Reue K, Stewart CL, Young SG, et al. Lamins A and C but not lamin B1 regulate nuclear mechanics. J Biol Chem 2006; 281:25768-25780.
104. Lammerding J, Hsiao J, Schulze PC, Kozlov S, Stewart CL, Lee RT. Abnormal nuclear shape and impaired mechanotransduction in emerin-deficient cells. J Cell Biol 2005; 170:781-791.
105. Lammerding J, Schulze PC, Takahashi T, Kozlov S, Sullivan T, Kamm RD, et al. Lamin A/C deficiency causes defective nuclear mechanics and mechanotransduction. J Clin Invest 2004; 113:370-378.
106. Luke Y, Zaim H, Karakesisoglou I, Jaeger VM, Sellin L, Lu W, et al. Nesprin-2 Giant (NUANCE) maintains nuclear envelope architecture and composition in skin. J Cell Sci 2008; 121:1887-1898.
107. Munter S, Enninga J, Vazquez-Martinez R, Delbarre E, David-Watine B, Nehrbass U, et al. Actin polymerisation at the cytoplasmic face of eukaryotic nuclei. BMC Cell Biol 2006; 7:23.
108. Ketema M, Wilhelmsen K, Kuikman I, Janssen H, Hodzic D, Sonnenberg A. Requirements for the localization of nesprin-3 at the nuclear envelope and its interaction with plectin. J Cell Sci 2007; 120:3384-3394.
109. Capetanaki Y, Milner DJ, Weitzer G. Desmin in muscle formation and maintenance: knockouts and consequences. Cell Struct Funct 1997; 22:103-116.
110. Cartaud A, Jasmin BJ, Changeux JP, Cartaud J. Direct involvement of a lamin-B-related (54 kDa) protein in the association of intermediate filaments with the postsynaptic membrane of the Torpedo marmorata electrocyte. J Cell Sci 1995; 108:153-160.
111. Agbulut O, Li Z, Perie S, Ludosky MA, Paulin D, Cartaud J, et al. Lack of desmin results in abortive muscle regeneration and modifications in synaptic structure. Cell Motil Cytoskeleton 2001; 49:51-66.
112. Li Z, Colucci-Guyon E, Pincon-Raymond M, Mericskay M, Pournin S, Paulin D, et al. Cardiovascular lesions and skeletal myopathy in mice lacking desmin. Dev Biol 1996; 175:362-366.
113. Milner DJ, Weitzer G, Tran D, Bradley A, Capetanaki Y. Disruption of muscle architecture and myocardial degeneration in mice lacking desmin. J Cell Biol 1996; 134:1255-1270.
114. Nikolova V, Leimena C, McMahon AC, Tan JC, Chandar S, Jogia D, et al. Defects in nuclear structure and function promote dilated cardiomyopathy in lamin A/C-deficient mice. J Clin Invest 2004; 113:357-369.
115. Muntoni F, Bonne G, Goldfarb LG, Mercuri E, Piercy RJ, Burke M, et al. Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins. Brain 2006; 129:1260-1268.
116. Meyerzon M, Fridolfsson HN, Ly N, McNally FJ, Starr DA. UNC-83 is a nuclear-specific cargo adaptor for kinesin-1-mediated nuclear migration. Development 2009; 136:2725-2733.
117. Zhou K, Rolls MM, Hall DH, Malone CJ, Hanna-Rose W. A ZYG-12-dynein interaction at the nuclear envelope defines cytoskeletal architecture in the C. elegans gonad. J Cell Biol 2009; 186:229-241.
118. Fan SS, Ready DF. Glued participates in distinct microtubule-based activities in Drosophila eye development. Development 1997; 124:1497-1507.
119. Whited JL, Cassell A, Brouillette M, Garrity PA. Dynactin is required to maintain nuclear position within postmitotic Drosophila photoreceptor neurons. Development 2004; 131:4677-4686.
120. Fan J, Beck KA. A role for the spectrin superfamily member Syne-1 and kinesin II in cytokinesis. J Cell Sci 2004; 117:619-629.
121. Sanes JR, Lichtman JW. Induction, assembly, maturation and maintenance of a postsynaptic apparatus. Nat Rev Neurosci 2001; 2:791-805.
122. Strochlic L, Cartaud A, Cartaud J. The synaptic muscle-specific kinase (MuSK) complex: new partners, new functions. Bioessays 2005; 27:1129-1135.
123. Zhang X, Xu R, Zhu B, Yang X, Ding X, Duan S, et al. Syne-1 and Syne-2 play crucial roles in myonuclear anchorage and motor neuron innervation. Development 2007; 134:901-908.
124. Arimura T, Helbling-Leclerc A, Massart C, Varnous S, Niel F, Lacene E, et al. Mouse model carrying H222P-Lmna mutation develops muscular dystrophy and dilated cardiomyopathy similar to human striated muscle laminopathies. Hum Mol Genet 2005; 14:155-169.
125. Sullivan T, Escalante-Alcalde D, Bhatt H, Anver M, Bhat N, Nagashima K, et al. Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophy. J Cell Biol 1999; 147:913-920.
126. Bonne G, Di Barletta MR, Varnous S, Becane HM, Hammouda EH, Merlini L, et al. Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nat Genet 1999; 21:285-288.
127. Fatkin D, MacRae C, Sasaki T, Wolff MR, Porcu M, Frenneaux M, et al. Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease. N Engl J Med 1999; 341:1715-1724.
128. Muchir A, Bonne G, van der Kooi AJ, van Meegen M, Baas F, Bolhuis PA, et al. Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B). Hum Mol Genet 2000; 9:1453-1459.
129. Cao H, Hegele RA. Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy. Hum Mol Genet 2000; 9:109-112.
130. Bonne G, Levy N. LMNA mutations in atypical Werner's syndrome. Lancet 2003; 362:1585-1586.
131. De Sandre-Giovannoli A, Chaouch M, Kozlov S, Vallat JM, Tazir M, Kassouri N, et al. Homozygous defects in LMNA, encoding lamin A/C nuclearenvelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse. Am J Hum Genet 2002; 70:726-736.
132. De Sandre-Giovannoli A, Bernard R, Cau P, Navarro C, Amiel J, Boccaccio I, et al. Lamin a truncation in Hutchinson-Gilford progeria. Science 2003; 300:2055.
133. Eriksson M, Brown WT, Gordon LB, Glynn MW, Singer J, Scott L, et al. Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. Nature 2003; 423:293-298.
134. Mittelbronn M, Sullivan T, Stewart CL, Bornemann A. Myonuclear degeneration in LMNA null mice. Brain Pathol 2008; 18:338-343.
135. Puckelwartz MJ, Kessler E, Zhang Y, Hodzic D, Randles KN, Morris G, et al. Disruption of nesprin-1 produces an Emery Dreifuss muscular dystrophy-like phenotype in mice. Hum Mol Genet 2009; 18:607-620.
136. Wheeler MA, Davies JD, Zhang Q, Emerson LJ, Hunt J, Shanahan CM, et al. Distinct functional domains in nesprin-1alpha and nesprin-2beta bind directly to emerin and both interactions are disrupted in X-linked Emery-Dreifuss muscular dystrophy. Exp Cell Res 2007; 313:2845-2857.
137. Gros-Louis F, Dupre N, Dion P, Fox MA, Laurent S, Verreault S, et al. Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia. Nat Genet 2007; 39:80-85.
138. Attali R, Warwar N, Israel A, Gurt I, McNally E, Puckelwartz M, et al. Mutation of SYNE-1, encoding an essential component of the nuclear lamina, is responsible for autosomal recessive arthrogryposis. Hum Mol Genet 2009.
139. Hoffmann K, Dreger CK, Olins AL, Olins DE, Shultz LD, Lucke B, et al. Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger-Huet anomaly). Nat Genet 2002; 31:410-414.
140. Kandert S, Luke Y, Kleinhenz T, Neumann S, Lu W, Jaeger VM, et al. Nesprin-2 giant safeguards nuclear envelope architecture in LMNA S143F progeria cells. Hum Mol Genet 2007; 16:2944-2959.