Exon Skipping in a Dysf-Missense Mutant Mouse Model [PDF]
Molecular Therapy: Nucleic Acids, 2018 Limb girdle muscular dystrophy 2B (LGMD2B) is without treatment and caused by mutations in the dysferlin gene (DYSF). One-third is missense mutations leading to dysferlin aggregation and amyloid formation, in addition to defects in sarcolemmal repair and
Jakub Malcher +10 more
doaj +7 more sources
Identification of Novel Antisense-Mediated Exon Skipping Targets in DYSF for Therapeutic Treatment of Dysferlinopathy [PDF]
Molecular Therapy: Nucleic Acids, 2018 Dysferlinopathy is a progressive myopathy caused by mutations in the dysferlin (DYSF) gene. Dysferlin protein plays a major role in plasma-membrane resealing.
Joshua J.A. Lee +4 more
doaj +5 more sources
Solution structure of the inner DysF domain of myoferlin and implications for limb girdle muscular dystrophy type 2b [PDF]
Journal of Molecular Biology, 2008 Mutations in the protein dysferlin, a member of the ferlin family, lead to limb girdle muscular dystrophy type 2B and Myoshi myopathy. The ferlins are large proteins characterised by multiple C2 domains and a single C-terminal membrane-spanning helix ...
Geddes, Stella M. +8 more
core +16 more sources
Two homozygous adjacent novel missense mutations in DYSF gene caused dysferlinopathy due to splicing abnormalities [PDF]
Frontiers in GeneticsBackground: Dysferlinopathy is an autosomal recessive disorder caused by mutations in the DYSF gene. This study reported two homozygous adjacent missense mutations in the DYSF gene, presenting clinically with bilateral lower limb weakness and calf ...
Lun Wang +4 more
doaj +4 more sources
Crystal structures of the human Dysferlin inner DysF domain [PDF]
BMC Structural Biology, 2014 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. +9 more
core +6 more sources
Null variants in DYSF result in earlier symptom onset
Clinical Genetics, 2021 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. The
최영철 +5 more
core +5 more sources
Genetic characterization and improved genotyping of the dysferlin-deficient mouse strain Dysf tm1Kcam [PDF]
Skeletal Muscle, 2015 BACKGROUND: Mouse models of dysferlinopathies are valuable tools with which to investigate the pathomechanisms underlying these diseases and to test novel therapeutic strategies.
Kobuke, Kazuhiro +9 more
core +5 more sources
Analysis of the DYSF Mutational Spectrum in a Large Cohort of Patients [PDF]
Human mutation, 2008 International audienceDysferlinopathies belong to the heterogeneous group of autosomal recessive muscular dystrophies. Mutations in the gene encoding dysferlin (DYSF) lead to distinct phenotypes, mainly Limb Girdle Muscular Dystrophy type 2B (LGMD2B) and
Pellissier, Jean +47 more
core +6 more sources
Multiple sclerosis severity variant in DYSF-ZNF638 locus associates with neuronal loss and inflammation [PDF]
iScienceSummary: The genetic variant rs10191329AA has been identified to associate with faster disability accrual in multiple sclerosis (MS). We investigated the impact of rs10191329AA carriership on MS pathology and flanking genes dysferlin (DYSF) and zinc ...
Hendrik J. Engelenburg +8 more
doaj +2 more sources
Genetics in Medicine, 2021 International audiencePURPOSE: Recent evolution of sequencing technologies and the development of international standards in variant interpretation have profoundly changed the diagnostic approaches in clinical genetics.
Nathalie Bonello-Palot +21 more
core +5 more sources