Results 21 to 30 of about 2,221 (162)
Scientific Reports, 2023 Reproductive dysfunctions have been recently documented in male greater amberjack Seriola dumerili caught from the wild and reared in captivity. In the present study, we compared testis transcriptome in wild fish (WILD), hatchery-produced fish with ...
Anna Lavecchia +12 more
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4-Phenylbutyrate restores localization and membrane repair to human dysferlin mutations
iScience, 2022 Summary: Dysferlinopathies are muscular dystrophies caused by recessive loss-of-function mutations in dysferlin (DYSF), a membrane protein involved in skeletal muscle membrane repair.
Kana Tominaga +7 more
doaj +1 more source
Crystal structures of the human Dysferlin inner DysF domain [PDF]
BMC Structural Biology, 2014 Mutations in dysferlin, the first protein linked with the cell membrane repair mechanism, causes a group of muscular dystrophies called dysferlinopathies. Dysferlin is a type two-anchored membrane protein, with a single C terminal trans-membrane helix, and most of the protein lying in cytoplasm.
Sula A. +4 more
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Null variants in
Clinical Genetics, 2021 Abstract We investigated the clinical, laboratory, and genetic spectra in Korean patients with dysferlinopathy to clarify its genotype–phenotype correlation. We retrospectively reviewed 101 patients from 96 unrelated families with pathogenic variants of DYSF .
Hyung Jun Park +7 more
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In Vitro Correction of Point Mutations in the <i>DYSF</i> Gene Using Prime Editing. [PDF]
Int J Mol SciDysferlinopathy is caused by over 500 mutations in the gene encoding dysferlin, including close to 300 point mutations. One option to cure the disease is to use a gene therapy to correct these mutations at the root. Prime editing is a technique which can replace the mutated nucleotide with the wild-type nucleotide.
Bouchard C +6 more
europepmc +3 more sources
Early pathological signs in young dysf −/− mice are improved by halofuginone [PDF]
Neuromuscular Disorders, 2019 Abstract Dysferlinopathies are a non-lethal group of late-onset muscular dystrophies. Here, we evaluated the fusion ability of primary myoblasts from young dysf −/− mice and the muscle histopathology prior to, and during ...
Barzilai-Tutsch, Hila +3 more
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Distinct amino acid motifs carrying multiple positive charges regulate membrane targeting of dysferlin and MG53. [PDF]
PLoS ONE, 2018 Dysferlin (Dysf) and mitsugumin53 (MG53) are two key proteins involved in membrane repair of muscle cells which are efficiently recruited to the sarcolemma upon lesioning.
Lu Zhou +4 more
doaj +1 more source
Genetics in Medicine, 2021 Recent evolution of sequencing technologies and the development of international standards in variant interpretation have profoundly changed the diagnostic approaches in clinical genetics. As a consequence, many variants that were initially claimed to be disease-causing can be now reclassified as benign or uncertain in light of the new data available ...
Charnay, Théo +10 more
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Genetic characterization and improved genotyping of the dysferlin-deficient mouse strain Dysf tm1Kcam [PDF]
Skeletal Muscle, 2015 Mouse models of dysferlinopathies are valuable tools with which to investigate the pathomechanisms underlying these diseases and to test novel therapeutic strategies. One such mouse model is the Dysf (tm1Kcam) strain, which was generated using a targeting vector to replace a 12-kb region of the dysferlin gene and which features a progressive muscular ...
Wiktorowicz, Tatiana +4 more
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Molecular Genetics & Genomic Medicine, 2023 Background Dysferlinopathies are autosomal recessive muscular dystrophies resulting from defects in DYSF (MIM: 603009), which is located on chromosome 2p13 and encodes the dysferlin protein. Methods We performed exome sequencing and subsequent trio‐based
Huan Li, Liang Wang, Cheng Zhang
doaj +1 more source