Results 101 to 110 of about 690 (122)

M.I.1 Mechanism of laminin assembly: Insight for structural repairs of MDC1A

Neuromuscular Disorders, 2013
Laminins play a key role in the assembly of sarcolemmal basement membranes by establishing anchors to the cell surface and underlying cytoskeleton, by polymerizing to form a cohesive scaffold, and by forming links to type IV collagen and other extracellular components.
P.D. Yurchenco, S. Crosson, K.K. McKee, M.A. Ruegg   +3 more
openaire   +1 more source

CRISPR/Cas9-mediated exon inclusion in Lama2 gene alleviates dystrophic pathology in MDC1A mouse model

Neuromuscular Disorders, 2016
R Cohn
exaly   +2 more sources

Triple-AAV intein-mediated gene therapy ameliorates dystrophic phenotype in MDC1A mice.

Molecular Therapy
Miquel Vila-Perello, Cristina Fernández-Avilés, Miguel Chillon   +2 more
exaly   +2 more sources

The adult phenotype of congenital muscular dystrophy (MDC1A) due to mutation of LAMA2

Neuromuscular disorders, 2009
Mutations in the laminin alpha 2- chain gene (LAMA2) were originally identified in a subset of patients with autosomal recessive merosin-deficient congenital muscular dystrophy linked to chromosome 6 (MDC1A). The clinical phenotype of these patients is characterized by severe muscle weakness at birth or in the first six months of life, delayed motor ...
Kovač, Ida, Canki-Klain, Nina
openaire   +2 more sources

Severe MDC1A Congenital Muscular Dystrophy Due to a Splicing Mutation in the LAMA2 Gene Resulting in Exon Skipping and Significant Decrease of mRNA Level

Genetic Testing, 2007
Congenital muscular dystrophies (CMDs) are a clinically and genetically heterogeneous group of neuromuscular disorders, with autosomal recessive inheritance. We report a patient with severe congenital muscular dystrophy and total deficiency in the laminin alpha2 chain.
Siala, Olfa, Louhichi, Nacim, Triki, Chahnez, Morinière, Madeleine, Rebai, Ahmed-Riadh, Richard, Pascale, Guicheney, Pascale, Baklouti, Faouzi, Fakhfakh, Faiza   +8 more
openaire   +3 more sources

Laminin protein therapies for zebrafish models of MDC1A and muscle regeneration

2017
Merosin deficient congenital muscular dystrophy (MDC1A) is a disease that affects laminin protein within skeletal muscle and the peripheral nervous system. Laminin deficiency leads to severe muscle degeneration, fibrosis and premature mortality. The extracellular protein, laminin helps anchor the muscle cell membrane to the extracellular matrix (ECM ...
openaire   +1 more source

Jab1 in the pathogenesis of Merosin deficient congenital muscular dystrophy (MDC1A)

Neuromuscular Disorders, 2017
D. Velardo, E. Porrello, R. Tonlorenzi, I. Lorenzetti, R. Pardi, D. Goldhamer, S. Previtali   +6 more
openaire   +1 more source

P2.2 A benign form of MDC1A in Korean siblings with a novel LAMA2 mutation

Neuromuscular Disorders, 2011
S.Y. Huh, Y.E. Park, D.S. Kim
openaire   +1 more source

P.332Effect of linker protein expression on LAMA2-related muscular dystrophy (MDC1A)

Neuromuscular Disorders, 2019
J. Reinhard, S. Lin, K. McKee, S. Meinen, M. Sury, P. Yurchenco, M. Rüegg   +6 more
openaire   +1 more source

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Frontiers in Molecular Neuroscience, 2020
James J Dowling, Lacramioara Fabian
exaly   +2 more sources