Results 161 to 170 of about 4,001 (193)

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

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 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

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
openaire   +2 more sources

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
openaire   +2 more sources

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
openaire   +2 more sources

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
openaire   +2 more sources

Mutation finding in patients with dysferlin deficiency and role of the dysferlin interacting proteins annexin A1 and A2 in muscular dystrophies

Human Mutation, 2005
Mutations in the DYSF gene underlie two main muscle diseases: Limb Girdle Muscular Dystrophy (LGMD) 2B and Miyoshi myopathy (MM). Dysferlin is involved in muscle membrane-repair and is thought to interact with other dysferlin molecules and annexins A1 and A2 at the sarcolemma.
R. Cagliani, F. Magri, A. Toscano, L. Merlini, F. Fortunato, C. Lamperti, C. Rodolico, A. Prelle, M. Sironi, M. Aguennouz, P. Ciscato, A. Uncini, M. Moggio, N. Bresolin, G.P. Comi   +14 more
openaire   +5 more sources

Developmental and tissue‐specific regulation of a novel dysferlin isoform

Muscle & Nerve, 2004
AbstractDysferlin plays an essential role in the muscle repair machinery, and its deficiency is associated with limb‐girdle muscular dystrophy type 2B and with two different distal myopathies (Miyoshi myopathy and distal anterior compartment myopathy).
S. Salani, S. Lucchiari, F.R. Fortunato, M. Crimi, S.P. Corti, F. Locatelli, P. Bossolasco, N. Bresolin, G.P. Comi   +8 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