| 1 | MYOT, MYTP
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| Analysis of myotilin turnover provides mechanistic insight into the role of myotilinopathy-causing mutations.
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| von Nandelstadh P, Soliymani R, Baumann M, Carpen O.
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| Biochem J 436(1):113-21.
2011
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| 2 | MYOT, MYOZ2
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| A class III PDZ binding motif in the myotilin and FATZ families binds enigma family proteins: a common link for Z-disc myopathies.
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| von Nandelstadh P, Ismail M, Gardin C, Suila H, Zara I, Belgrano A, Valle G, Carpen O, Faulkner G
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| Mol Cell Biol. 29(3):822-34 2009
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| 3 | MYOT
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| Maintenance of muscle mass, fiber size, and contractile function in mice lacking the Z-disc protein myotilin.
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| Ochala J, Carpén O, Larsson L.
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| Ups J Med Sci 114(4):235-41.
2009
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| 4 | MYOT
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| Solution structure of the first immunoglobulin domain of human myotilin.
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| Heikkinen O, Permi P, Koskela H, Carpén O, Ylänne J, Kilpeläinen I.
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| J Biomol NMR 44(2):107-12. Epub 2009 May 6.
2009
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| 5 | MYOT, MYTP
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| Autosomal-dominant distal myopathy with a myotilin S55F mutation: sorting out the phenotype.
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| Berciano J, Gallardo E, Domínguez-Perles R, Gallardo E, García A, García-Barredo R, Combarros O, Infante J, Illa I.
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| J Neurol Neurosurg Psychiatry 79(2):205-8. Epub 2007 Aug 13.PMID: 17698502 2008
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| 6 | MYOT
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| Targeted deletion of the muscular dystrophy gene myotilin does not perturb muscle structure or function in mice.
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| Moza M, Mologni L, Trokovic R, Faulkner G, Partanen J, Carpén O.
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| Mol Cell Biol 27(1):244-52. Epub 2006 Oct 30.
2007
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| 7 | MYOT, MPD2
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| Myotilin is not the causative gene for vocal cord and pharyngeal weakness with distal myopathy (VCPDM).
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| Garvey SM, Senderek J, Beckmann JS, Seboun E, Jackson CE, Hauser MA.
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| Ann Hum Genet 70(Pt 3):414-6. 2006
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| 8 | TTN, NEB, TRIM63, TRIM55, MYOT, TRIM54
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| MURF-1 and MURF-2 target a specific subset of myofibrillar proteins redundantly: towards understanding MURF-dependent muscle ubiquitination.
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| Witt SH, Granzier H, Witt CC, Labeit S.
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| J Mol Biol 350(4):713-22. 2005
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| 9 | LGMD1A,MYOT,MYTP
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| Myotilinopathy: refining the clinical and myopathological phenotype.
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| Olive M, Goldfarb LG, Shatunov A, Fischer D, Ferrer I.
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| Brain 128(Pt 10):2315-26. Epub 2005 Jun 9. 2005
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| 10 | MYOT
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| Actin-organising properties of the muscular dystrophy protein myotilin.
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| von Nandelstadh P, Grönholm M, Moza M, Lamberg A, Savilahti H, Carpén O.
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| Exp Cell Res 310(1):131-9.
2005
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| 11 | MYOT, LGMD1A, MYTP
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| Mutations in myotilin cause myofibrillar myopathy.
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| Selcen D, Engel AG.
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| Neurology 62(8):1363-71. Erratum in: Neurology. 2004 Jul 27;63(2):405. 2004
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| 12 | LGMD1A, MYOT
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| Myotilin, the limb-girdle muscular dystrophy 1A (LGMD1A) protein, cross-links actin filaments and controls sarcomere assembly.
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| Salmikangas P, van der Ven PF, Lalowski M, Taivainen A, Zhao F, Suila H, Schroder R, Lappalainen P, Furst DO, Carpen O.
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| Hum Mol Genet 12(2):189-203. 2003
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| 13 | MYOT
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| Beyond LGMD1A: myotilin is a component of central core lesions and nemaline rods.
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| Schroder R, Reimann J, Salmikangas P, Clemen CS, Hayashi YK, Nonaka I, Arahata K, Carpen O.
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| Neuromuscul Disord 13(6):451-5. 2003
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| 14 | MYOT
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| myotilin Mutation found in second pedigree with LGMD1A.
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| Hauser MA, Conde CB, Kowaljow V, Zeppa G, Taratuto AL, Torian UM, Vance J, Pericak-Vance MA, Speer MC, Rosa AL.
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| Am J Hum Genet 71(6):1428-32. 2002
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| 15 | LGMD1A, MYOT
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| Myotilin is mutated in limb girdle muscular dystrophy 1A.
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| Hauser MA, Horrigan SK, Salmikangas P, Torian UM, Viles KD, Dancel R, Tim RW, Taivainen A, Bartoloni L, Gilchrist JM, Stajich JM, Gaskell PC, Gilbert JR, Vance JM, Pericak-Vance MA, Carpen O, Westbrook CA, Speer MC.
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| Hum Mol Genet 9(14):2141-7. 2000
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| 16 | MYOT
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| Myotilin, a novel sarcomeric protein with two Ig-like domains, is encoded by a candidate gene for limb-girdle muscular dystrophy.
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| Salmikangas P, et al.
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| Hum Mol Genet 8(7):1329-1336. 1999
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| 17 | MYOT
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| TTID: A novel gene at 5q31 encoding a protein with titin-like features.
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| Godley LA, et al.
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| Genomics 60(2):226-33 1999
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