Results 161 to 170 of about 3,769 (195)

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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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

Dysferlin quantification in monocytes for rapid screening for dysferlinopathies

Muscle & Nerve, 2016
ABSTRACTIntroduction: In this study, we determined normal levels of dysferlin expression in CD14+monocytes by flow cytometry (FC) as a screening tool for dysferlinopathies.Methods: Monocytes from 183 healthy individuals and 29 patients were immunolabeled, run on an FACScalibur flow cytometer, and analyzed by FlowJo software.Results: The relative ...
Laura, Sánchez-Chapul, Miguel Del, Ángel-Muñoz, Luis, Ruano-Calderón, Alexandra, Luna-Angulo, Ramón, Coral-Vázquez, Óscar, Hernández-Hernández, Jonathan J, Magaña, Saúl R, León-Hernández, Rosa E, Escobar-Cedillo, Steven, Vargas   +9 more
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Dysferlin deficiency treated like refractory polymyositis

Clinical Rheumatology, 2009
When an adult suffers from muscular symptoms, the diagnosis of polymyositis is often accepted if muscular biopsy reveals necrosis, fibrosis and cellular infiltrate with high expression of major histocompatibility complex class I. Late-onset limb-girdle muscular dystrophy (LGMD) can also be considered.
Julien, Vinit, Maxime, Samson, Jean-Baptiste, Gaultier, Annie, Laquerriere, Elisabeth, Ollagnon, Philippe, Petiot, Isabelle, Marie, Hervé, Levesque, Hugues, Rousset   +8 more
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Dysferlin and the plasma membrane repair in muscular dystrophy

Trends in Cell Biology, 2004
Muscular dystrophy covers a group of genetically determined disorders that cause progressive weakness and wasting of the skeletal muscles. Dysferlin was identified as a gene mutated in limb-girdle muscular dystrophy (type 2B) and Miyoshi myopathy. The discovery of dysferlin revealed a new family of proteins, known as the ferlin family, which includes ...
Dimple, Bansal, Kevin P, Campbell
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Dysferlin mutation in a Chinese pedigree with Miyoshi myopathy

Clinical Neurology and Neurosurgery, 2006
Mutations in the dysferlin gene cause two autosomal recessive forms of muscular dystrophy: Miyoshi myopathy and limb-girdle muscular dystrophy type 2B. The purpose of this study was to diagnose a Chinese pedigree with the autosomal recessive form of muscular dystrophy and conduct mutational screening.The pedigree was diagnosed accurately by using two ...
Sun, Shunchang, Qishi, Fan, Wu, Huacheng, France, Leturcq, Song, Yongjian, Zhang, Bingfeng, Yu, Wen, Nathalie, Deburgrave   +7 more
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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 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
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Dysferlin‐deficient muscular dystrophy features amyloidosis

Annals of Neurology, 2008
AbstractObjectiveDysferlin (DYSF) gene mutations cause limb girdle muscular dystrophy type 2B and Miyoshi's myopathy. The consequences of DYSF mutations on protein structure are poorly understood.MethodsThe gene encoding dysferlin was sequenced in patients with suspected dysferlin‐deficient muscular dystrophy.
Spuler S, Carl M, Zabojszcza J, Straub V, Bushby K, Moore SA, Bähring S, Wenzel K, Vinkemeier U, Rocken C   +9 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 ...
openaire   +1 more source