DYSF protein, human

Known as: dysferlin protein, human, dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) protein, human, Dysferlin 
Dysferlin (2080 aa, ~237 kDa) is encoded by the human DYSF gene. This protein plays a role in sarcolemmal membrane dynamics.

Topic mentions per year

Topic mentions per year

1998-2018
05101519982018

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2010
2010
A deficiency of the dysferlin protein results in limb girdle muscular dystrophy type 2B and Miyoshi myopathy, with resulting… (More)
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2009
Highly Cited
2009
Defective membrane repair can contribute to the progression of muscular dystrophy. Although mutations in caveolin-3 (Cav3) and… (More)
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Highly Cited
2007
Highly Cited
2007
Dysferlin is a type-II transmembrane protein and the causative gene of limb girdle muscular dystrophy type 2B and Miyoshi… (More)
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2006
Highly Cited
2006
Dysferlin is a muscle protein involved in cell membrane repair and its deficiency is associated with muscular dystrophy. We… (More)
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2004
Highly Cited
2004
Limb girdle muscular dystrophy type 2B and Miyoshi myopathy are clinically distinct forms of muscular dystrophy that arise from… (More)
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2003
Highly Cited
2003
Muscular dystrophy includes a diverse group of inherited muscle diseases characterized by wasting and weakness of skeletal muscle… (More)
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2003
Highly Cited
2003
Mutations in the dysferlin gene cause limb girdle muscular dystrophy type 2B and Miyoshi myopathy. We report here the results of… (More)
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2001
Highly Cited
2001
Dysferlin is a surface membrane protein in skeletal muscle whose deficiency causes distal and proximal, recessively inherited… (More)
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1999
Highly Cited
1999
Recently, a single gene, DYSF, has been identified which is mutated in patients with limb-girdle muscular dystrophy type 2B… (More)
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1998
Highly Cited
1998
Miyoshi myopathy (MM) is an adult onset, recessive inherited distal muscular dystrophy that we have mapped to human chromosome… (More)
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