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Defects in G-Actin Incorporation into Filaments in Myoblasts Derived from Dysferlinopathy Patients Are Restored by Dysferlin C2 Domains
(MDPI, 2020)
Dysferlin is a transmembrane C-2 domain-containing protein involved in vesicle trafficking and membrane remodeling in skeletal muscle cells. However, the mechanism by which dysferlin regulates these cellular processes ...
Dysferlinopathy in Chile: Evidence of Two Novel Mutations in the First Reported Cases
(MARY ANN LIEBERT, INC, 2009)
We describe two Chilean patients with dysferlinopathy, a 32-year-old man with Miyoshi's distal myopathy and a 29-year-old woman with a proximodistal phenotype. Absence of dysferlin in frozen muscle biopsy allowed diagnostic ...
The absence of dysferlin induces the expression of functional connexin-based hemichannels in human myotubes
(2016)
Background: Mutations in the gene encoding for dysferlin cause recessive autosomal muscular dystrophies called dysferlinopathies. These mutations induce several alterations in skeletal muscles, including, inflammation, ...
Ketogenic diet ameliorates dysferlinopathy phenotype in Dysf-/-mice by promoting mitochondrial function
(PERGAMON-ELSEVIER SCIENCE LTD, 2019)
Sin resumen
N-Acetylcysteine Reduces Skeletal Muscles Oxidative Stress and Improves Grip Strength in Dysferlin-Deficient Bla/J Mice
(MDPI, 2020)
Dysferlinopathy is an autosomal recessive muscular dystrophy resulting from mutations in the dysferlin gene. Absence of dysferlin in the sarcolemma and progressive muscle wasting are hallmarks of this disease. Signs of ...
N-Acetylcysteine reduces skeletal muscles oxidative stress and improves grip strength in dysferlin-deficient Bla/J Mice
(MDPI, 2020)
Dysferlinopathy is an autosomal recessive muscular dystrophy resulting from mutations
in the dysferlin gene. Absence of dysferlin in the sarcolemma and progressive muscle wasting
are hallmarks of this disease. Signs of ...