FKRP directed fibronectin glycosylation: A novel mechanism giving insights into muscular dystrophies?
Sign Up to like & getrecommendations! Published in 2022 at "BioEssays"
DOI: 10.1002/bies.202100270
Abstract: The recently uncovered role of Fukutin‐related protein (FKRP) in fibronectin glycosylation has challenged our understanding of the basis of disease pathogenesis in the muscular dystrophies. FKRP is a Golgi‐resident glycosyltransferase implicated in a broad spectrum… read more here.
Keywords: muscular dystrophies; fibronectin glycosylation; directed fibronectin; dystrophies fkrp ... See more keywords
Immunobiology of Inherited Muscular Dystrophies.
Sign Up to like & getrecommendations! Published in 2018 at "Comprehensive Physiology"
DOI: 10.1002/cphy.c170052
Abstract: 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… read more here.
Keywords: many muscular; response; muscle; muscular dystrophy ... See more keywords
Limb–Girdle Muscular Dystrophies
Sign Up to like & getrecommendations! Published in 2020 at "Neuromuscular Disorders"
DOI: 10.1007/978-981-10-5361-0_12
Abstract: Limb–girdle muscular dystrophies (LGMDs) are a large group of autosomal muscular dystrophies, transmitted as dominant (LGMD 1) and recessive (LGMD 2). Presently at least 8 dominant and 21 recessive forms have been described. All share… read more here.
Keywords: limb girdle; muscular dystrophies; girdle muscular;
Quality of life in adult patients with limb–girdle muscular dystrophies
Sign Up to like & getrecommendations! Published in 2017 at "Acta Neurologica Belgica"
DOI: 10.1007/s13760-017-0857-9
Abstract: Abstract Although limb–girdle muscular dystrophies (LGMD) can cause permanent disability, to date there are no studies that examined quality of life (QoL) in these patients. Our aim was to evaluate QoL in patients with LGMD,… read more here.
Keywords: qol patients; limb girdle; girdle muscular; quality life ... See more keywords
In Vivo Genome Engineering for the Treatment of Muscular Dystrophies
Sign Up to like & getrecommendations! Published in 2020 at "Current Stem Cell Reports"
DOI: 10.1007/s40778-020-00173-3
Abstract: Purpose of Review Muscular dystrophies (MDs) are a heterogeneous collection of inherited disorders which cause progressive muscle loss and weakness/hypotonia. Owing to the genetic root of MDs, CRISPR/Cas9 genome editing has been investigated as a… read more here.
Keywords: crispr; crispr cas9; vivo genome; muscular dystrophies ... See more keywords
229th ENMC international workshop: Limb girdle muscular dystrophies – Nomenclature and reformed classification Naarden, the Netherlands, 17–19 March 2017
Sign Up to like & getrecommendations! Published in 2018 at "Neuromuscular Disorders"
DOI: 10.1016/j.nmd.2018.05.007
Abstract: The 229th ENMC workshop entitled ‘Limb Girdle Muscular Dystrophies – Nomenclature and reformed Classification’ took place from the 17th to the 19th of March 2017 in Naarden, The Netherlands. A multidisciplinary group of 20 people… read more here.
Keywords: workshop; classification; limb girdle; 229th enmc ... See more keywords
A population-based study of mortality due to muscular dystrophies across a 36-year period in Spain
Sign Up to like & getrecommendations! Published in 2022 at "Scientific Reports"
DOI: 10.1038/s41598-022-07814-z
Abstract: Muscular dystrophies (MD) are a group of rare hereditary degenerative diseases. Our aim was to analyze the mortality pattern in Spain from 1981 to 2016 to assess the temporal trend and discern possible geographic differences… read more here.
Keywords: population based; based study; year; muscular dystrophies ... See more keywords
Circulating small RNA signatures differentiate accurately the subtypes of muscular dystrophies: small-RNA next-generation sequencing analytics and functional insights
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DOI: 10.1080/15476286.2022.2058817
Abstract: ABSTRACT Muscular dystrophies are a group of rare and severe inherited disorders mainly affecting the muscle tissue. Duchene Muscular Dystrophy, Myotonic Dystrophy types 1 and 2, Limb Girdle Muscular Dystrophy and Facioscapulohumeral Muscular Dystrophy are… read more here.
Keywords: muscular dystrophies; dystrophy; next generation; muscular dystrophy ... See more keywords
Advances in CRISPR/Cas9 Genome Editing for the Treatment of Muscular Dystrophies.
Sign Up to like & getrecommendations! Published in 2023 at "Human gene therapy"
DOI: 10.1089/hum.2023.059
Abstract: Muscular dystrophies (MDs) comprise a diverse group of inherited disorders characterized by progressive muscle loss and weakness. Given the genetic etiology underlying MDs, researchers have explored the potential of CRISPR/Cas9 genome editing as a therapeutic… read more here.
Keywords: genome editing; crispr cas9; cas9 genome; muscular dystrophies ... See more keywords
AAV-based gene therapies for the muscular dystrophies.
Sign Up to like & getrecommendations! Published in 2019 at "Human molecular genetics"
DOI: 10.1093/hmg/ddz128
Abstract: Muscular dystrophy is a group of progressive genetic diseases affecting the musculature which are characterized by inflammatory infiltrates, necrosis and connective tissue and fat replacement of the affected muscles. Unfortunately, treatments do not exist for… read more here.
Keywords: muscular dystrophies; muscular dystrophy; dystrophy; based gene ... See more keywords
Na+-H+ exchanger and proton channel in heart failure associated with Becker and Duchenne muscular dystrophies.
Sign Up to like & getrecommendations! Published in 2017 at "Canadian journal of physiology and pharmacology"
DOI: 10.1139/cjpp-2017-0265
Abstract: Cardiomyopathy is found in patients with Duchenne (DMD) and Becker (BMD) muscular dystrophies, which are linked muscle diseases caused by mutations in the dystrophin gene. Dystrophin defects are not limited to DMD but are also… read more here.
Keywords: proton channel; heart; becker; sodium ... See more keywords