Myotilin

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Overview

Myotilin, also known as MYOT, is a human gene.

Striated muscle sarcomeres are highly organized structures composed of actin (thin) and myosin (thick) filaments that slide past each other during contraction. The integrity of sarcomeres is controlled by a set of structural proteins, among which are titin (TTN; MIM 188840), a giant molecule that contains several immunoglobulin (Ig)-like domains and associates with thin and thick filaments, and alpha-actinin (ACTN1; MIM 102575), an actin cross-linking protein. Mutations in several sarcomeric and sarcolemmal proteins have been shown to result in muscular dystrophy and cardiomyopathy.[supplied by OMIM]

Further reading

• Speer MC, Yamaoka LH, Gilchrist JH; et al. (1992). "Confirmation of genetic heterogeneity in limb-girdle muscular dystrophy: linkage of an autosomal dominant form to chromosome 5q". Am. J. Hum. Genet. 50 (6): 1211–7. PMID 1598902.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Dixon MJ, Read AP, Donnai D; et al. (1991). "The gene for Treacher Collins syndrome maps to the long arm of chromosome 5". Am. J. Hum. Genet. 49 (1): 17–22. PMID 1676560.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Bartoloni L, Horrigan SK, Viles KD; et al. (1999). "Use of a CEPH meiotic breakpoint panel to refine the locus of limb-girdle muscular dystrophy type 1A (LGMD1A) to a 2-Mb interval on 5q31". Genomics. 54 (2): 250–5. doi:10.1006/geno.1998.5579. PMID 9828127.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Salmikangas P, Mykkänen OM, Grönholm M; et al. (1999). "Myotilin, a novel sarcomeric protein with two Ig-like domains, is encoded by a candidate gene for limb-girdle muscular dystrophy". Hum. Mol. Genet. 8 (7): 1329–36. PMID 10369880.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Godley LA, Lai F, Liu J; et al. (1999). "TTID: A novel gene at 5q31 encoding a protein with titin-like features". Genomics. 60 (2): 226–33. doi:10.1006/geno.1999.5912. PMID 10486214.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Hauser MA, Horrigan SK, Salmikangas P; et al. (2000). "Myotilin is mutated in limb girdle muscular dystrophy 1A". Hum. Mol. Genet. 9 (14): 2141–7. PMID 10958653.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• van der Ven PF, Wiesner S, Salmikangas P; et al. (2000). "Indications for a novel muscular dystrophy pathway. gamma-filamin, the muscle-specific filamin isoform, interacts with myotilin". J. Cell Biol. 151 (2): 235–48. PMID 11038172.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Hauser MA, Conde CB, Kowaljow V; et al. (2003). "myotilin Mutation found in second pedigree with LGMD1A". Am. J. Hum. Genet. 71 (6): 1428–32. PMID 12428213.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Salmikangas P, van der Ven PF, Lalowski M; et al. (2003). "Myotilin, the limb-girdle muscular dystrophy 1A (LGMD1A) protein, cross-links actin filaments and controls sarcomere assembly". Hum. Mol. Genet. 12 (2): 189–203. PMID 12499399.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Battle MA, Maher VM, McCormick JJ (2003). "ST7 is a novel low-density lipoprotein receptor-related protein (LRP) with a cytoplasmic tail that interacts with proteins related to signal transduction pathways". Biochemistry. 42 (24): 7270–82. doi:10.1021/bi034081y. PMID 12809483.CS1 maint: Multiple names: authors list (link)
• Selcen D, Engel AG (2004). "Mutations in myotilin cause myofibrillar myopathy". Neurology. 62 (8): 1363–71. PMID 15111675.
• Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Witt SH, Granzier H, Witt CC, Labeit S (2005). "MURF-1 and MURF-2 target a specific subset of myofibrillar proteins redundantly: towards understanding MURF-dependent muscle ubiquitination". J. Mol. Biol. 350 (4): 713–22. doi:10.1016/j.jmb.2005.05.021. PMID 15967462.CS1 maint: Multiple names: authors list (link)
• Gontier Y, Taivainen A, Fontao L; et al. (2006). "The Z-disc proteins myotilin and FATZ-1 interact with each other and are connected to the sarcolemma via muscle-specific filamins". J. Cell. Sci. 118 (Pt 16): 3739–49. doi:10.1242/jcs.02484. PMID 16076904.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• von Nandelstadh P, Grönholm M, Moza M; et al. (2005). "Actin-organising properties of the muscular dystrophy protein myotilin". Exp. Cell Res. 310 (1): 131–9. doi:10.1016/j.yexcr.2005.06.027. PMID 16122733.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Rual JF, Venkatesan K, Hao T; et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Foroud T, Pankratz N, Batchman AP; et al. (2006). "A mutation in myotilin causes spheroid body myopathy". Neurology. 65 (12): 1936–40. doi:10.1212/01.wnl.0000188872.28149.9a. PMID 16380616.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Garvey SM, Senderek J, Beckmann JS; et al. (2006). "Myotilin is not the causative gene for vocal cord and pharyngeal weakness with distal myopathy (VCPDM)". Ann. Hum. Genet. 70 (Pt 3): 414–6. doi:10.1111/j.1529-8817.2005.00252.x. PMID 16674563.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Pénisson-Besnier I, Talvinen K, Dumez C; et al. (2006). "Myotilinopathy in a family with late onset myopathy". Neuromuscul. Disord. 16 (7): 427–31. doi:10.1016/j.nmd.2006.04.009. PMID 16793270.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)