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Immunobiology of Inherited Muscular Dystrophies.
The immune response to acute muscle damage is important for normal repair. However, in chronic diseases such as many muscular dystrophies, the immune response can amplify pathology and play a major role in determining disease severity.
J. Tidball +2 more
semanticscholar +1 more source
An ex vivo gene therapy approach to treat muscular dystrophy using inducible pluripotent stem cells. [PDF]
Duchenne muscular dystrophy is a progressive and incurable neuromuscular disease caused by genetic and biochemical defects of the dystrophin-glycoprotein complex.
Borges, Luciene +11 more
core +2 more sources
Muscular Dystrophies at Different Ages: Metabolic and Endocrine Alterations
Common metabolic and endocrine alterations exist across a wide range of muscular dystrophies. Skeletal muscle plays an important role in glucose metabolism and is a major participant in different signaling pathways.
Oriana del Rocío Cruz Guzmán +2 more
doaj +1 more source
Hereditary muscular dystrophies
Precise diagnostic of hereditary muscular diseases begins to change during recent years due to genetic achievements. Genetic defects discoveries typical for different clinical variants of muscular dystrophies give opportunity for creation of specific ...
V. B. Doronin, O. B. Doronina
doaj +1 more source
Muscular dystrophies are a group of genetic diseases which cause progressive degeneration of skeletal muscle along with weakness. They are characterized by an impaired synthesis or regeneration of contractile protein.
Jyoti Deshpande +2 more
doaj +1 more source
Hydrogel biomaterials and their therapeutic potential for muscle injuries and muscular dystrophies
Muscular diseases such as muscular dystrophies and muscle injuries constitute a large group of ailments that manifest as muscle weakness, atrophy or fibrosis.
Rachel Lev, D. Seliktar
semanticscholar +1 more source
Zebrafish models flex their muscles to shed light on muscular dystrophies
Muscular dystrophies are a group of genetic disorders that specifically affect skeletal muscle and are characterized by progressive muscle degeneration and weakening.
Joachim Berger, Peter D. Currie
doaj +1 more source
Crystal structures of the human Dysferlin inner DysF domain [PDF]
Background: Mutations in dysferlin, the first protein linked with the cell membrane repair mechanism, causes a group of muscular dystrophies called dysferlinopathies.
Cole, Ambrose R. +4 more
core +1 more source
Facioscapulohumeral muscular dystrophy
Facioscapulohumeral muscular dystrophy (FSHD) is caused by a cascade of epigenetic events following contraction of the polymorphic macrosatellite repeat D4Z4 in the subtelomere of chromosome 4q. Currently, the central issue is whether immediate downstream effects are local (i.e., at chromosome 4q) or global (genome-wide) and there is evidence for both ...
Maarel, S.M. van der +2 more
openaire +4 more sources
Muscular dystrophy meets protein biochemistry, the mother of invention [PDF]
Muscular dystrophies result from a defect in the linkage between the muscle fiber cytoskeleton and the basement membrane (BM). Congenital muscular dystrophy type MDC1A is caused by mutations in laminin α2 that either reduce its expression or impair its ...
Jeffrey H. Miner +3 more
core +2 more sources

