Results 191 to 200 of about 5,143 (201)

Dysferlin Protein Analysis in Limb-Girdle Muscular Dystrophies

Journal of Molecular Neuroscience, 2001
Dysferlin is the protein product of the DYSF gene mapped at 2p31, which mutations cause limb-girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi myopathy. To date, nine autosomal recessive forms (AR-LGMD) have been identified: four genes, which code for the sarcoglycan glycoproteins, are associated with both mild and severe forms, the ...
Vainzof M, Anderson LVB, McNally EM, Davis DB, Faulkner G, Valle G, Moreira ES, Pavanello RCM, Passos-Bueno MR, Zatz M   +9 more
openaire   +3 more sources

AHNAK a novel component of the dysferlin protein complex, redistributes to the cytoplasm with dysferlin during skeletal muscle regeneration

The FASEB Journal, 2006
ABSTRACT Mutations in dysferlin cause limb girdle muscular dystrophy 2B, Miyoshi myopathy and distal anterior compartment myopathy. Dysferlin is proposed to play a role in muscle membrane repair. To gain functional insight into the molecular mechanisms of dysferlin, we have searched for dysferlin‐interacting ...
Huang Y, Laval SH, Van Remoortere A, Baudier J, Benaud C, Anderson LVB, Straub V, Deelder A, Frants RR, Den Dunnen JT, Bushby K, Van Der Maarel SM   +11 more
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Dysferlin and muscular dystrophy.

Acta neurologica Belgica, 2001
The limb-girdle muscular dystrophies are a highly heterogeneous group of muscle disorders with many different genetic causes now known. Amongst the causes of LGMD, the dysferlin gene stands out as novel for several reasons. It is the first known example of a C2 domain containing protein involved in a muscular dystrophy, mutations in the gene can be ...
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P1.18 Dysferlin peptides elicit functional recovery in dysferlin deficient muscular dystrophy

Neuromuscular Disorders, 2010
V. Schoewel, A. Marg, R. Siegert, A. Schulze, U. Zacharias, I. Morano, S. Spuler   +6 more
openaire   +1 more source

Increased dysferlin expression in Duchenne muscular dystrophy.

Analytical and quantitative cytopathology and histopathology, 2014
To investigate dysferlin expression in muscle biopsies from patients with Duchenne muscular dystrophy (DMD). Dysferlin is known to have a role in the process of membrane fusion and muscle membrane repair in skeletal muscle fibers.We analyzed 20 muscle biopsy samples of DMD patients with immunohistochemical techniques to determine the expression of ...
Adamantios, Vontzalidis, Gerasimos, Terzis, Panagiota, Manta   +2 more
openaire   +1 more source

Dysferlin

2008
openaire   +1 more source

G.P.4.08 Dysferlin in muscle regeneration

Neuromuscular Disorders, 2007
L. Klinge, J. Harris, R. Charlton, F. Hanisch, V. Straub, R. Barresi, K. Bushby   +6 more
openaire   +1 more source

ADAM and Dysferlin in pathology placenta

Journal of Reproductive Immunology, 2011
M. Weber, U.R. Markert, J.S. Fitzgerald
openaire   +1 more source

Features of dysferlin mutations in Japan

Journal of the Neurological Sciences, 2017
T. Takahashi, N. Suzuki, R. Izumi, C. Yaginuma, N. Shimakura, H. Ono, Y. Shimosegawa, Y. Sugimura, S. Taniguchi, H. Oizumi, H. Tanaka, M. Yoshioka, A. Takeda, Y. Aoki, M. Aoki   +14 more
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[LGMD2B(dysferlin deficiency)].

Ryoikibetsu shokogun shirizu, 2001
openaire   +1 more source