Results 211 to 220 of about 6,430 (245)

Performance of upper limb entry item to predict forced vital capacity in dysferlin-deficient limb girdle muscular dystrophy.

Neuromuscular Disorders
Dysferlin-deficient limb girdle muscular dystrophy (LGMD R2), also referred to as dysferlinopathy, can be associated with respiratory muscle weakness as the disease progresses.
H. Borland, U. Moore, H. G. Dressman, Anri Human, Anna G. Mayhew, H. Hilsden, L. Rufibach, T. Duong, E. Maron, B. DeWolf, Kristy Rose, C. Siener, Simone Thiele, N. S. Práxedes, A. Canal, S. Holsten, C. Sakamoto, Irene Pedrosa-Hernández, L. Bello, L. Alfano, L. Lowes, Meredith K James, V. Straub   +22 more
semanticscholar   +1 more source

Locally increased dysferlin expression improves left-ventricular function by stabilizing membrane nanodomains of cardiomyocytes in the myocardial infarction border zone

European Heart Journal
Dysferlin, a transmembrane protein with multiple Ca2+-binding C2-domains, is expressed in the sarcolemma and vesicle membranes of striated muscle cells.
J. B. Wegener, Y. Zuehlke, C. Fleischhacker, N. Paulke, G. Riedemann, T. Kohl, C. Lenz, S. E. Lehnart, S. Brandenburg   +8 more
semanticscholar   +1 more source

Dysferlin mutations in Japanese Miyoshi myopathy

Neurology, 2003
To study dysferlin gene mutations and genotype-phenotype correlations in Japanese patients with Miyoshi myopathy (MM).MM is an autosomal recessive distal muscular dystrophy that arises from mutations in the dysferlin gene. This gene is also mutated in families with limb girdle muscular dystrophy 2B.The authors examined 25 Japanese patients with MM ...
T, Takahashi, M, Aoki, M, Tateyama, E, Kondo, T, Mizuno, Y, Onodera, R, Takano, H, Kawai, K, Kamakura, H, Mochizuki, M, Shizuka-Ikeda, M, Nakagawa, Y, Yoshida, J, Akanuma, K, Hoshino, H, Saito, M, Nishizawa, S, Kato, K, Saito, T, Miyachi, H, Yamashita, M, Kawai, T, Matsumura, S, Kuzuhara, T, Ibi, K, Sahashi, H, Nakai, T, Kohnosu, I, Nonaka, K, Arahata, R H, Brown, H, Saito, Y, Itoyama   +32 more
openaire   +2 more sources

Differential diagnoses of inflammatory myopathies with positive biopsy for dysferlin

Arquivos de Neuro-Psiquiatria
Case presentation: A 24-year-old male presented with a four-year history of progressive proximal lower limb weakness and gait difficulty. He had previously been active and engaged in high-impact exercise, but he had discontinued exercise and gained ...
Ana Luísa Vilela Sá Fortes, Maria Clara Motta Barbosa Valente, Fernando Pierini Costa, Mariana Tonon Giovannone, Vanessa Moraes Rossette, Ana Paula de Almeida Campos, E. Zanoteli, André Macedo   +7 more
semanticscholar   +1 more source

Repairing the tears: dysferlin in muscle membrane repair

Trends in Molecular Medicine, 2003
Many muscular dystrophies arise from enhanced muscle degeneration, but one muscular dystrophy subtype has now been shown to arise from defective muscle membrane repair. Mutations in the gene encoding dysferlin cause muscular dystrophy, and recent work has demonstrated a role for this protein in resealing muscle membrane tears.
Katherine R, Doherty, Elizabeth M, McNally   +1 more
openaire   +2 more sources

Full length TECPR1 displays ‘cis’ Dysferlin domain architecture

bioRxiv
Tectonin Beta-Propeller Repeat containing 1 (TECPR1) is an essential regulator of a noncanonical autophagy pathway known as Sphingomyelin TECPR1 induced LC3 lipidation (STIL). TECPR1 forms an E3-like ligase complex and recognizes exposed sphingomyelin on
Ernest Okertchiri, J. Miles, C. K. Cassidy, Adam L. Yokom, Adam Lee   +4 more
semanticscholar   +1 more source

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
openaire   +3 more sources

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 ...
openaire   +1 more source

Morpholino-Mediated Exons 28-29 Skipping of Dysferlin and Characterization of Multiexon-skipped Dysferlin using RT-PCR, Immunoblotting, and Membrane Wounding Assay.

Methods in molecular biology, 2023
S. Anwar, T. Yokota
semanticscholar   +1 more source