Cloning of the mouse dysferlin gene and genomic characterization of the SJL-Dysf mutation

Vafiadaki, E; Reis, A; Keers, S; Harrison, R; Anderson, LVB; Raffelsberger, T; Ivanova, S; Hoger, H; Bittner, RE; Bushby, K; Bashir, R

doi:10.1097/00001756-200103050-00039

Dysferlin regulates cell membrane repair by facilitating injury-triggered acid sphingomyelinase secretion (2014)
Journal Article
Defour, A., van der Meulen, J., Bhat, R., Bigot, A., Bashir, R., Nagaraju, K., & Jaiswal, J. (2014). Dysferlin regulates cell membrane repair by facilitating injury-triggered acid sphingomyelinase secretion. Cell Death and Disease, 5(6), https://doi.org/10.1038/cddis.2014.272

Dysferlin deficiency compromises the repair of injured muscle, but the underlying cellular mechanism remains elusive. To study this phenomenon, we have developed mouse and human myoblast models for dysferlinopathy. These dysferlinopathic myoblasts un... Read More about Dysferlin regulates cell membrane repair by facilitating injury-triggered acid sphingomyelinase secretion.

ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation (2013)
Journal Article
Sarkozy, A., Hicks, D., Hudson, J., Laval, S., Barresi, R., Hilton-Jones, D., …Lochmüller, H. (2013). ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation. Human Mutation: Variation, Informatics and Disease, 34(8), 1111-1118. https://doi.org/10.1002/humu.22342

Limb girdle muscular dystrophy type 2L or anoctaminopathy is a condition mainly characterized by adult onset proximal lower limb muscular weakness and raised CK values, due to recessive ANO5 gene mutations. An exon 5 founder mutation (c.191dupA) has... Read More about ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation.

Selective pattern of muscle involvement seen in distal muscular dystrophy associated with anoctamin 5 mutations: a follow-up muscle MRI study. (2012)
Journal Article
Mahjneh, I., Bashir, R., Kiuru-Enari, S., Linssen, W., Lamminen, A., & de Visser, M. (2012). Selective pattern of muscle involvement seen in distal muscular dystrophy associated with anoctamin 5 mutations: a follow-up muscle MRI study. Neuromuscular Disorders, 22(S2), 130-136. https://doi.org/10.1016/j.nmd.2012.02.007

Anoctaminopathy is a new muscular dystrophy caused by mutations in the ANO5 gene. ANO5 mutations cause distal and proximal phenotypes. We report here a follow-up muscle MRI study on five patients affected by distal form of anoctaminopathy. T1 weighte... Read More about Selective pattern of muscle involvement seen in distal muscular dystrophy associated with anoctamin 5 mutations: a follow-up muscle MRI study..

Lack of correlation between outcomes of membrane repair assay and correction of dystrophic changes in experimental therapeutic strategy in dysferlinopathy (2012)
Journal Article
Lostal, W., Bartoli, M., Roudaut, C., Bourg, N., Krahn, M., Pryadkina, M., …Richard, I. (2012). Lack of correlation between outcomes of membrane repair assay and correction of dystrophic changes in experimental therapeutic strategy in dysferlinopathy. PLoS ONE, 7(5), Article e38036. https://doi.org/10.1371/journal.pone.0038036

Mutations in the dysferlin gene are the cause of Limb-girdle Muscular Dystrophy type 2B and Miyoshi Myopathy. The dysferlin protein has been implicated in sarcolemmal resealing, leading to the idea that the pathophysiology of dysferlin deficiencies i... Read More about Lack of correlation between outcomes of membrane repair assay and correction of dystrophic changes in experimental therapeutic strategy in dysferlinopathy.

Clathrin-independent carriers form a high capacity endocytic sorting system at the leading edge of migrating cells (2010)
Journal Article
Howes, M., Kirkham, M., Riches, J., Cortese, K., Walser, P., Simpson, F., …Parton, R. (2010). Clathrin-independent carriers form a high capacity endocytic sorting system at the leading edge of migrating cells. Journal of Cell Biology, 190(4), 675-691. https://doi.org/10.1083/jcb.201002119

Although the importance of clathrin- and caveolin-independent endocytic pathways has recently emerged, key aspects of these routes remain unknown. Using quantitative ultrastructural approaches, we show that clathrin-independent carriers (CLICs) accou... Read More about Clathrin-independent carriers form a high capacity endocytic sorting system at the leading edge of migrating cells.

Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies. (2010)
Journal Article
Bolduc, V., Marlow, G., Boycott, K., Saleki, K., Inoue, H., Kroon, J., …Brais, B. (2010). Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies. American Journal of Human Genetics, 86(2), 213-221. https://doi.org/10.1016/j.ajhg.2009.12.013

The recently described human anion channel Anoctamin (ANO) protein family comprises at least ten members, many of which have been shown to correspond to calcium-activated chloride channels. To date, the only reported human mutations in this family of... Read More about Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies..

Patients with a Non-dysferlin Miyoshi Myopathy have a Novel Membrane Repair Defect (2007)
Journal Article
Jaiswal, J., Marlow, G., Summerill, G., Mahjneh, I., Mueller, S., Hill, M., …Bashir, R. (2007). Patients with a Non-dysferlin Miyoshi Myopathy have a Novel Membrane Repair Defect. Traffic, 8(1), 77-88. https://doi.org/10.1111/j.1600-0854.2006.00505.x

Two autosomal recessive muscle diseases, limb girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi myopathy (MM), are caused by mutations in the dysferlin gene. These mutations result in poor ability to repair cell membrane damage, which is suggest... Read More about Patients with a Non-dysferlin Miyoshi Myopathy have a Novel Membrane Repair Defect.

Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C (2001)
Journal Article
Brockington, M., Yuva, Y., Prandini, P., Brown, S., Torelli, S., Benson, M., …Muntoni, F. (2001). Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C. Human Molecular Genetics, 10(25), 2851-2859. https://doi.org/10.1093/hmg/10.25.2851

The limb girdle and congenital muscular dystrophies (LGMD and CMD) are characterized by skeletal muscle weakness and dystrophic muscle changes. The onset of symptoms in CMD is within the first few months of life, whereas in LGMD they can occur in lat... Read More about Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C.

Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy (2001)
Journal Article
Aoki, M., Liu, J., Richard, I., Bashir, R., Britton, S., Keers, S., …Brown, R. (2001). Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy. Neurology, 57(2), 271-278. https://doi.org/10.1212/wnl.57.2.271

OBJECTIVE: Mutations in the skeletal muscle gene dysferlin cause two autosomal recessive forms of muscular dystrophy: Miyoshi myopathy (MM) and limb girdle muscular dystrophy type 2B (LGMD2B). The purpose of this study was to define the genomic organ... Read More about Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy.

Cloning of the mouse dysferlin gene and genomic characterization of the SJL-Dysf mutation (2001)
Journal Article
Vafiadaki, E., Reis, A., Keers, S., Harrison, R., Anderson, L., Raffelsberger, T., …Bashir, R. (2001). Cloning of the mouse dysferlin gene and genomic characterization of the SJL-Dysf mutation. NeuroReport, 12(3), 625-629. https://doi.org/10.1097/00001756-200103050-00039

The SJL mouse strain has been widely used as an animal model for experimental autoimmune encephalitis (EAE), inflammatory muscle disease and lymphomas and has also been used as a background strain for the generation of animal models for a variety of... Read More about Cloning of the mouse dysferlin gene and genomic characterization of the SJL-Dysf mutation.

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