FAQ

DYSF gene

Known as: Dysferlin, Limb Girdle Muscular Dystrophy 2B (Autosomal Recessive) Gene, fer-1-like family member 1, FER1L1 
This gene plays a role in muscle contraction and plasma membrane dynamics.

Topic mentions per year

Topic mentions per year

1999-2017
0102019992017

Related topics

Related topics

6 relations
Calcium SignalingDYSF protein, humanDistal Muscular DystrophiesLigand Binding
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Related mentions per year

Related mentions per year

1936-2018
19401960198020002020
DYSF gene
Muscle Contraction
Muscular Dystrophies, Limb-Girdle
Calcium Signaling
Distal Muscular Dystrophies
Ligand Binding

Papers overview

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Highly Cited
2012
Highly Cited
2012
Evidence-based path to newborn screening for Duchenne muscular dystrophy.
OBJECTIVE Creatine kinase (CK) levels are increased on dried blood spots in newborns related to the birthing process. As a marker… (More)
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Highly Cited
2009
Highly Cited
2009
Membrane repair defects in muscular dystrophy are linked to altered interaction between MG53, caveolin-3, and dysferlin.
Defective membrane repair can contribute to the progression of muscular dystrophy. Although mutations in caveolin-3 (Cav3) and… (More)
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2009
2009
Analysis of the DYSF mutational spectrum in a large cohort of patients.
Dysferlinopathies belong to the heterogeneous group of autosomal recessive muscular dystrophies. Mutations in the gene encoding… (More)
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Highly Cited
2007
Highly Cited
2007
Two endoplasmic reticulum-associated degradation (ERAD) systems for the novel variant of the mutant dysferlin: ubiquitin/proteasome ERAD(I) and autophagy/lysosome ERAD(II).
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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2007
2007
AHNAK, a novel component of the dysferlin protein complex, redistributes to the cytoplasm with dysferlin during skeletal muscle regeneration.
Mutations in dysferlin cause limb girdle muscular dystrophy 2B, Miyoshi myopathy and distal anterior compartment myopathy… (More)
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Highly Cited
2006
Highly Cited
2006
Dysferlin is a new marker for leaky brain blood vessels in multiple sclerosis.
Dysferlin is a muscle protein involved in cell membrane repair and its deficiency is associated with muscular dystrophy. We… (More)
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Highly Cited
2004
Highly Cited
2004
Disruption of muscle membrane and phenotype divergence in two novel mouse models of dysferlin deficiency.
Limb girdle muscular dystrophy type 2B and Miyoshi myopathy are clinically distinct forms of muscular dystrophy that arise from… (More)
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Highly Cited
2003
Highly Cited
2003
Defective membrane repair in dysferlin-deficient muscular dystrophy.
Muscular dystrophy includes a diverse group of inherited muscle diseases characterized by wasting and weakness of skeletal muscle… (More)
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Highly Cited
2003
Highly Cited
2003
Dysferlin interacts with annexins A1 and A2 and mediates sarcolemmal wound-healing.
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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Highly Cited
2001
Highly Cited
2001
The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle.
Dysferlin is a surface membrane protein in skeletal muscle whose deficiency causes distal and proximal, recessively inherited… (More)
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