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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 ...
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, ...
Inflammasome up-regulation and activation in dysferlin-deficient skeletal muscle
(American Society for Investigative Pathology, 2018)
Dysferlin function in skeletal muscle: possible pathological mechanisms and therapeutical targets in dysferlinopathies
(2016)
Mutations in the dysferlin gene are linked to a group of muscular dystrophies known as dysferlinopathies. These myopathies are characterized by progressive atrophy. Studies in muscle tissue from dysferlinopathy patients ...
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 ...
Dysferlin function in skeletal muscle: Possible pathological mechanisms and therapeutical targets in dysferlinopathies
(2016)
Mutations in the dysferlin gene are linked to a group of muscular dystrophies known as dysferlinopathies. These myopathies are characterized by progressive atrophy. Studies in muscle tissue from dysferlinopathy patients ...
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, ...
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, ...