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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
Acta Neuropathologica Communications, 2023 Dysferlin is a Ca2+-activated lipid binding protein implicated in muscle membrane repair. Recessive variants in DYSF result in dysferlinopathy, a progressive muscular dystrophy.
Joe Yasa +13 more
doaj +1 more source
Neurology Perspectives, 2022 Introduction: The Limb Girdle Muscular Dystrophies (LGMD) are a heterogeneous group of genetically inherited myopathies characterized by progressive weakness of the limb-girdle muscles.
M. Schiava +10 more
doaj +1 more source
Intramuscular delivery of rAAV5.DYSF.
, 2012 4–6 week old dysferlin deficient mice were injected into the tibialis anterior muscle with 1011 vg of rAAV5.DYSF (n = 4 per group). Endpoint analysis occurred at 4 weeks post gene transfer and analyzed by histology, immunofluorescence and western blot ...
Chrystal L. Montgomery (157807) +10 more
core +1 more source
Ancestry dependent balancing selection of placental dysferlin at high-altitude
Frontiers in Cell and Developmental Biology, 2023 Introduction: The placenta mediates fetal growth by regulating gas and nutrient exchange between the mother and the fetus. The cell type in the placenta where this nutrient exchange occurs is called the syncytiotrophoblast, which is the barrier between ...
William E. Gundling +5 more
doaj +1 more source
rAAV5.DYSF delivered directly to Dysf−/− diaphragm corrects tetanic force and resistance to fatigue.
, 2012 The diaphragm of 10 week old dysferlin deficient mice (129-Dysf−/−) (n = 6 per group) was treated with 1011 vg of rAAV5.DYSF via a peritoneal incision.
Chrystal L. Montgomery (157807) +10 more
core +1 more source
Analysis of genomes isolated from rAAV5.DYSF.
, 2012 DNA was isolated from rAAV5.DYSF vector preparation and used for Southern blot and PCR analysis. (A) Schematic of rAAV5.DYSF cassette. Strand specific hybridization probes used for Southern blot analysis are indicated by red bars.
Chrystal L. Montgomery (157807) +10 more
core +1 more source
Molecular Genetics & Genomic Medicine, 2019 Background Dysferlinopathies are a group of autosomal recessive limb‐girdle muscular dystrophies (LGMDs) caused by mutations in DYSF (#603,009). This gene encodes a transmembrane protein called dysferlin.
Marzieh Mojbafan +5 more
doaj +1 more source
Advanced Science, EarlyView.Comparative antennal single‐nucleus transcriptomics reveals cell‐type‐dependent transcriptomic divergence in Bactrocera dorsalis, with similar structural cells but divergent sensory neurons. This neuronal diversification is associated with a distinct ammonia‐sensing pathway, linking female attraction to bird‐dropping‐associated cues with nutritional ...
Wei Liu +7 more
wiley +1 more source
Recovery of membrane repair following rAAV5.DYSF injection in muscle.
, 2012 (A) Individual flexor digitorum brevis fibers were isolated from WT, 129-DYSF−/−, and 129-DYSFrAAV.DYSF mice and the sarcolemma was damaged in the context of a solution containing FM 1–43.
Chrystal L. Montgomery (157807) +10 more
core +1 more source