Citations for
1CASQ1, DYSF, MYOM2
Dysferlin interacts with calsequestrin-1, myomesin-2 and dynein in human skeletal muscle.
Flix B, de la Torre C, Castillo J, Casal C, Illa I, Gallardo E.
Int J Biochem Cell Biol 45(8):1927-38. doi: 10.1016/j.biocel.2013.06.007. Epub 2013 Jun 19. 2013
2DYSF, LGMD2B
Clinical features and a mutation with late onset of limb girdle muscular dystrophy 2B.
Takahashi T, Aoki M, Suzuki N, Tateyama M, Yaginuma C, Sato H, Hayasaka M, Sugawara H, Ito M, Abe-Kondo E, Shimakura N, Ibi T, Kuru S, Wakayama T, Sobue G, Fujii N, Saito T, Matsumura T, Funakawa I, Mukai E, Kawanami T, Morita M, Yamazaki M, Hasegawa T, Shimizu J, Tsuji S, Kuzuhara S, Tanaka H, Yoshioka M, Konno H, Onodera H, Itoyama Y.
J Neurol Neurosurg Psychiatry Neurol Neurosurg Psychiatry. 2012 Dec 20. [Epub ahead of print] 2012
3DYSF, EHBP1, EHD1, EHD2, FER1L5, MYOF, OTOF
Endocytic recycling proteins EHD1 and EHD2 interact with fer-1-like-5 (Fer1L5) and mediate myoblast fusion.
Posey AD Jr, Pytel P, Gardikiotes K, Demonbreun AR, Rainey M, George M, Band H, McNally EM.
J Biol Chem 286(9):7379-88. Epub 2010 Dec 22. 2011
4DYSF, LGMD2B
Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations.
Cacciottolo M, Numitone G, Aurino S, Caserta IR, Fanin M, Politano L, Minetti C, Ricci E, Piluso G, Angelini C, Nigro V.
Eur J Hum Genet 19(9):974-80. doi: 10.1038/ejhg.2011.70. Epub 2011 Apr 27. 2011
5DYSF, HDAC6
Dysferlin interacts with histone deacetylase 6 and increases alpha-tubulin acetylation.
Di Fulvio S, Azakir BA, Therrien C, Sinnreich M.
PLoS One 6(12):e28563. doi: 10.1371/journal.pone.0028563. Epub 2011 Dec 8. 2011
6DYSF
Dysferlin forms a dimer mediated by the C2 domains and the transmembrane domain in vitro and in living cells.
Xu L, Pallikkuth S, Hou Z, Mignery GA, Robia SL, Han R.
PLoS One 6(11):e27884. doi: 10.1371/journal.pone.0027884. Epub 2011 Nov 14. 2011
7DYSF, LGMD2B
Translational research and therapeutic perspectives in dysferlinopathies.
Barthélémy F, Wein N, Krahn M, Lévy N, Bartoli M.
Mol Med 17(9-10):875-82. doi: 10.2119/molmed.2011.00084. Epub 2011 May 6. Review. 2011
8DYSF
Proteomic identification of dysferlin-interacting protein complexes in human vascular endothelium.
Leung C, Utokaparch S, Sharma A, Yu C, Abraham T, Borchers C, Bernatchez P.
Biochem Biophys Res Commun 415(2):263-9. doi: 10.1016/j.bbrc.2011.10.031. Epub 2011 Oct 19. 2011
9DYSF, LGMD2B
Private dysferlin exon skipping mutation (c.5492G>A) with a founder effect reveals further alternative splicing involving exons 49-51.
Santos R, Oliveira J, Vieira E, Coelho T, Carneiro AL, Evangelista T, Dias C, Fortuna A, Geraldo A, Negrão L, Guimarães A, Bronze-da-Rocha E.
J Hum Genet 55(8):546-9. Epub 2010 Jun 10.PMID: 20535123 2010
10DYSF
A new role for the muscle repair protein dysferlin in endothelial cell adhesion and angiogenesis.
Sharma A, Yu C, Leung C, Trane A, Lau M, Utokaparch S, Shaheen F, Sheibani N, Bernatchez P.
Arterioscler Thromb Vasc Biol 30(11):2196-204. doi: 10.1161/ATVBAHA.110.208108. Epub 2010 Aug 19. 2010
11DYSF
Dysferlin interacts with tubulin and microtubules in mouse skeletal muscle.
Azakir BA, Di Fulvio S, Therrien C, Sinnreich M.
PLoS One 5(4):e10122. doi: 10.1371/journal.pone.0010122. 2010
12DYSF
Dysferlin overexpression in skeletal muscle produces a progressive myopathy.
Glover LE, Newton K, Krishnan G, Bronson R, Boyle A, Krivickas LS, Brown RH Jr.
Ann Neurol 67(3):384-93. doi: 10.1002/ana.21926. 2010
13DYSF
Dysferlin associates with the developing T-tubule system in rodent and human skeletal muscle.
Klinge L, Harris J, Sewry C, Charlton R, Anderson L, Laval S, Chiu YH, Hornsey M, Straub V, Barresi R, Lochmüller H, Bushby K.
Muscle Nerve 41(2):166-73. doi: 10.1002/mus.21166. 2010
14DYSF
Identification and characterisation of human dysferlin transcript variants: implications for dysferlin mutational screening and isoforms.
Pramono ZA, Tan CL, Seah IA, See JS, Kam SY, Lai PS, Yee WC.
Hum Genet 125(4):413-20. Epub 2009 Feb 17. 2009
15DMAT, DYSF
Novel DYSF mutations in Thai patients with distal myopathy.
Liewluck T, Pongpakdee S, Witoonpanich R, Sangruchi T, Pho-Iam T, Limwongse C, Thongnoppakhun W, Boonyapisit K, Sopassathit V, Phudhichareonrat S, Suthiponpaisan U, Raksadawan N, Goto K, Hayashi YK, Nishino I.
Clin Neurol Neurosurg 111(7):613-8. Epub 2009 Jun 2.PMID: 19493611 2009
16DYSF
Attenuated muscle regeneration is a key factor in dysferlin-deficient muscular dystrophy.
Chiu YH, Hornsey MA, Klinge L, Jørgensen LH, Laval SH, Charlton R, Barresi R, Straub V, Lochmüller H, Bushby K.
Hum Mol Genet 18(11):1976-89. Epub 2009 Mar 13.PMID: 19286669 2009
17DYSF, MYOF
While dysferlin and myoferlin are coexpressed in the human placenta, only dysferlin expression is responsive to trophoblast fusion in model systems.
Robinson JM, Ackerman WE 4th, Behrendt NJ, Vandre DD.
Biol Reprod 81(1):33-9. Epub 2009 Feb 18.PMID: 19228595 2009
18DMAT, DYSF, LGMD2B, MMD1
Analysis of the DYSF mutational spectrum in a large cohort of patients.
Krahn M, Béroud 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, Laforêt P, Urtizberea JA, Eymard B, Leturcq F, Lévy N.
Hum Mutat um Mutat. 2009 2009
19CAPN3, DYSF
Calpain 3 is a modulator of the dysferlin protein complex in skeletal muscle.
Huang Y, de MorrŽe A, van Remoortere A, Bushby K, Frants RR, Dunnen JT, van der Maarel SM.
Hum Mol Genet 17(12):1855-66. Epub 2008 Mar 11. 2008
20DYSF, MMD1
A novel compound heterozygous dysferlin mutation in Miyoshi myopathy siblings responding to dantrolene.
Hattori H, Nagata E, Oya Y, Takahashi T, Aoki M, Ito D, Suzuki N.
Eur J Neurol 14(11):1288-91. Epub 2007 Sep 14. 2007
21AHNAK, DYSF
AHNAK, a novel component of the dysferlin protein complex, redistributes to the cytoplasm with dysferlin during skeletal muscle regeneration.
Huang Y, Laval SH, van Remoortere A, Baudier J, Benaud C, Anderson LV, Straub V, Deelder A, Frants RR, den Dunnen JT, Bushby K, van der Maarel SM.
FASEB J 21(3):732-42. Epub 2006 Dec 21. 2007
22DMAT, DYSF, LGMD2B, MMD1
Distal anterior compartment myopathy with early ankle contractures.
Saito H, Suzuki N, Ishiguro H, Hirota K, Itoyama Y, Takahashi T, Aoki M.
Muscle Nerve 36(4):525-7.PMID: 17614318 2007
23DYSF, CAV1, CAV3
Aberrant dysferlin trafficking in cells lacking caveolin or expressing dystrophy mutants of caveolin-3.
Hernandez-Deviez DJ, Martin S, Laval SH, Lo HP, Cooper ST, North KN, Bushby K, Parton RG.
Hum Mol Genet 15(1):129-42. Epub 2005 Nov 30. 2006
24LGMD2B, DYSF
Lariat branch point mutation in the dysferlin gene with mild limb-girdle muscular dystrophy.
Sinnreich M, Therrien C, Karpati G.
Neurology 66(7):1114-6. 2006
25DYSF
Identification and characterization of a novel human dysferlin transcript: dysferlin_v1.
Pramono ZA, Lai PS, Tan CL, Takeda S, Yee WC.
Hum Genet 120(3):410-9. Epub 2006 Aug 2. 2006
26PARVB, DYSF
Dysferlin interacts with affixin (beta-parvin) at the sarcolemma.
Matsuda C, Kameyama K, Tagawa K, Ogawa M, Suzuki A, Yamaji S, Okamoto H, Nishino I, Hayashi YK.
J Neuropathol Exp Neurol 64(4):334-40. 2005
27DYSF
Characterisation of the dysferlin skeletal muscle promoter.
Foxton RM, Laval SH, Bushby KM.
Eur J Hum Genet 12(2):127-31. 2004
28DYSF, MMD1
Novel dysferlin mutations and characteristic muscle atrophy in late-onset Miyoshi myopathy.
Suzuki N, Aoki M, Takahashi T, Takano D, Asano M, Shiga Y, Onodera Y, Tateyama M, Itoyama Y.
Muscle Nerve 29(5):721-3. 2004
29DYSF, LGMD2B, MMD1
Defective membrane repair in dysferlin-deficient muscular dystrophy.
Bansal D, Miyake K, Vogel SS, Groh S, Chen CC, Williamson R, McNeil PL, Campbell KP.
Nature 423(6936):168-72. 2003
30DYSF, LGMD2B, MMD1
Protein and gene analyses of dysferlinopathy in a large group of Japanese muscular dystrophy patients.
Tagawa K, Ogawa M, Kawabe K, Yamanaka G, Matsumura T, Goto K, Nonaka I, Nishino I, Hayashi YK.
J Neurol Sci 211(1-2):23-8. 2003
31CAV3, DYSF
The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle.
Matsuda C, Hayashi YK, Ogawa M, Aoki M, Murayama K, Nishino I, Nonaka I, Arahata K, Jr RH Jr.
Hum Mol Genet 10(17):1761-6. 2001
32DYSF, LGMD2B
Distal anterior compartment myopathy: a dysferlin mutation causing a new muscular dystrophy phenotype.
Illa I, Serrano-Munuera C, Gallardo E, Lasa A, Rojas-Garcia R, Palmer J, Gallano P, Baiget M, Matsuda C, Brown RH.
Ann Neurol 49(1):130-4. 2001
33DYSF, MMD1
Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy.
Aoki M, Liu J, Richard I, Bashir R, Britton S, Keers SM, Oeltjen J, Brown HE, Marchand S, Bourg N, Beley C, McKenna-Yasek D, Arahata K, Bohlega S, Cupler E, Illa I, Majneh I, Barohn RJ, Urtizberea JA, Fardeau M, Amato A, Angelini C, Bushby K, Beckmann JS, Brown RH Jr.
Neurology 57(2):271-8. 2001
34DYSF
Dysferlin protein analysis in limb-girdle muscular dystrophies.
Vainzof M, Anderson LV, McNally EM, Davis DB, Faulkner G, Valle G, Moreira ES, Pavanello RC, Passos-Bueno MR, Zatz M.
J Mol Neurosci 17(1):71-80. 2001
35DYSF, LGMD2B
Splicing mutation in dysferlin produces limb-girdle muscular dystrophy with inflammation.
McNally EM, Ly CT, Rosenmann H, Mitrani Rosenbaum S, Jiang W, Anderson LV, Soffer D, Argov Z.
Am J Med Genet 91(4):305-12. 2000
36DYSF, MYOF, OTOF
The third human FER-1-like protein is highly similar to dysferlin.
Britton S, Freeman T, Vafiadaki E, Keers S, Harrison R, Bushby K, Bashir R.
Genomics 68(3):313-21. 2000
37CAPN3, DYSF
Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies).
Anderson LV, Harrison RM, Pogue R, Vafiadaki E, Pollitt C, Davison K, Moss JA, Keers S, Pyle A, Shaw PJ, Mahjneh I, Argov Z, Greenberg CR, Wrogemann K, Bertorini T, Goebel HH, Beckmann JS, Bashir R, Bushby KM.
Neuromuscul Disord 10(8):553-9. 2000
38DYSF
Dysferlin is a plasma membrane protein and is expressed early in human development.
Anderson LV, et al.
Hum Mol Genet 8(5):855-61. 1999
39DYSF, LGMD2B, MMD1
Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi Myopathy suggests a role for modifier gene.
Weiler T, et al.
Hum Mol Genet 8(5):871-7. 1999
40DYSF, LGMD2B
Dysferlin deletion in SJL mice (SJL-dysf) defines a natural model for limb girdle muscular dystrophy 2B.
Bittner RE, et al.
Nat Genet 23(2):141-2. No abstract available 1999
41DYSF, EMD, EMD3
Nuclear changes in a case of X-linked Emery-Dreifuss muscular dystrophy.
Ognibene A, et al.
Muscle Nerve 22(7):864-9 1999
42DYSF, LGMD2B, MMD1
Generation of a 3-Mb PAC contig spanning the Miyoshi myopathy/limb-girdle muscular dystrophy (MM/LGMD2B) locus on chromosome 2p13.
Liu J, et al.
Genomics 49 : 23-29. 1998
43DYSF, LGMD2B
A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B.
Bashir R, et al.
Nat Genet 20 : 37-42. 1998
44DYSF, LGMD2B, MMD1
Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy.
Liu J, et al.
Nat Genet 20 : 31-36. 1998
45DYSF, MMD1
Miyoshi-type distal muscular dystrophy. Clinical spectrum in 24 Dutch patients.
Linssen WH, Notermans NC, Van der Graaf Y, Wokke JH, Van Doorn PA, Howeler CJ, Busch HF, De Jager AE, De Visser M.
Brain 120 ( Pt 11):1989-96. 1997
46DYSF, LGMD2B, MMD1
Linkage of Miyoshi myopathy (distal autosomal recessive muscular dystrophy) locus to chromosome 2p12-14.
Bejaoui K, et al.
Neurology 45 : 768-772. 1995