dysferlin
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The DYSF gene provides instructions for making a protein called dysferlin. This protein is found in the thin membrane that surrounds muscle fibers, which is called the sarcolemma. Dysferlin is thought to play an important role in repairing the sarcolemma when it becomes damaged due to muscle strain. Researchers suggest that dysferlin may also be involved in transporting materials within muscle fibers. Dysferlin may also work together with calcium to regulate cell signaling pathways.
Normal function
The DYSF gene provides instructions for making a protein called dysferlin. This protein is found in the thin membrane that surrounds muscle fibers, which is called the sarcolemma. Dysferlin is thought to play an important role in repairing the sarcolemma when it becomes damaged due to muscle strain. Researchers suggest that dysferlin may also be involved in transporting materials within muscle fibers. Dysferlin may also work together with calcium to regulate cell signaling pathways.
Conditions referring to this gene or chromosome
Altri nomi
FER1L1
Ulteriori letture e riferimenti
- dysferlin; MedlinePlus, National Library of Medicine.
- Aoki M, Takahashi T. Dysferlinopathy. 2004 Feb 5 [updated 2025 Dec 4]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1303/
- Bansal D, Campbell KP. Dysferlin and the plasma membrane repair in muscular dystrophy. Trends Cell Biol. 2004 Apr;14(4):206-13. doi: 10.1016/j.tcb.2004.03.001.
- Broglio L, Tentorio M, Cotelli MS, Mancuso M, Vielmi V, Gregorelli V, Padovani A, Filosto M. Limb-girdle muscular dystrophy-associated protein diseases. Neurologist. 2010 Nov;16(6):340-52. doi: 10.1097/NRL.0b013e3181d35b39.
- Chiu YH, Hornsey MA, Klinge L, Jorgensen LH, Laval SH, Charlton R, Barresi R, Straub V, Lochmuller H, Bushby K. Attenuated muscle regeneration is a key factor in dysferlin-deficient muscular dystrophy. Hum Mol Genet. 2009 Jun 1;18(11):1976-89. doi: 10.1093/hmg/ddp121. Epub 2009 Mar 13.
- Glover L, Brown RH Jr. Dysferlin in membrane trafficking and patch repair. Traffic. 2007 Jul;8(7):785-94. doi: 10.1111/j.1600-0854.2007.00573.x. Epub 2007 Jun 5.
- Han R, Campbell KP. Dysferlin and muscle membrane repair. Curr Opin Cell Biol. 2007 Aug;19(4):409-16. doi: 10.1016/j.ceb.2007.07.001. Epub 2007 Jul 26.
- Klinge L, Aboumousa A, Eagle M, Hudson J, Sarkozy A, Vita G, Charlton R, Roberts M, Straub V, Barresi R, Lochmuller H, Bushby K. New aspects on patients affected by dysferlin deficient muscular dystrophy. J Neurol Neurosurg Psychiatry. 2010 Sep;81(9):946-53. doi: 10.1136/jnnp.2009.178038. Epub 2009 Jun 14.
- Krahn M, Beroud C, Labelle V, Nguyen K, Bernard R, Bassez G, Figarella-Branger D, Fernandez C, Bouvenot J, Richard I, Ollagnon-Roman E, Bevilacqua JA, Salvo E, Attarian S, Chapon F, Pellissier JF, Pouget J, Hammouda el H, Laforet P, Urtizberea JA, Eymard B, Leturcq F, Levy N. Analysis of the DYSF mutational spectrum in a large cohort of patients. Hum Mutat. 2009 Feb;30(2):E345-75. doi: 10.1002/humu.20910.
- Moore U, Gordish H, Diaz-Manera J, James MK, Mayhew AG, Guglieri M, Fernandez-Torron R, Rufibach LE, Feng J, Blamire AM, Carlier PG, Spuler S, Day JW, Jones KJ, Bharucha-Goebel DX, Salort-Campana E, Pestronk A, Walter MC, Paradas C, Stojkovic T, Mori-Yoshimura M, Bravver E, Pegoraro E, Lowes LP, Mendell JR, Bushby K, Straub V; Jain COS Consortium. Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same disease. Neuromuscul Disord. 2021 Apr;31(4):265-280. doi: 10.1016/j.nmd.2021.01.009. Epub 2021 Jan 21.
- Nguyen K, Bassez G, Krahn M, Bernard R, Laforet P, Labelle V, Urtizberea JA, Figarella-Branger D, Romero N, Attarian S, Leturcq F, Pouget J, Levy N, Eymard B. Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes. Arch Neurol. 2007 Aug;64(8):1176-82. doi: 10.1001/archneur.64.8.1176.
- Paradas C, Llauger J, Diaz-Manera J, Rojas-Garcia R, De Luna N, Iturriaga C, Marquez C, Uson M, Hankiewicz K, Gallardo E, Illa I. Redefining dysferlinopathy phenotypes based on clinical findings and muscle imaging studies. Neurology. 2010 Jul 27;75(4):316-23. doi: 10.1212/WNL.0b013e3181ea1564. Epub 2010 Jun 23.
- Poudel BH, Fletcher S, Wilton SD, Aung-Htut M. Limb Girdle Muscular Dystrophy Type 2B (LGMD2B): Diagnosis and Therapeutic Possibilities. Int J Mol Sci. 2024 May 21;25(11):5572. doi: 10.3390/ijms25115572.
- Straub V, Bushby K. The childhood limb-girdle muscular dystrophies. Semin Pediatr Neurol. 2006 Jun;13(2):104-14. doi: 10.1016/j.spen.2006.06.006.
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