Results 81 to 90 of about 56,717 (273)
N‐terminal domain of dystrophin [PDF]
FEBS Letters, 1994 Contro‐versial experiments have been published on calmodulin binding of dystrophin. In this study, we used recombinant proteins and the techniques of affinity chromatography and ELISA to show that the N‐terminal part of dystrophin binds calmodulin specifically in a calcium‐dependent manner. The calcium‐dependent interaction of calmodulin and dystrophin
Bonet-Kerrache, Armelle +2 more
openaire +2 more sources
bioRxiv, 2018 Duchenne Muscular Dystrophy (DMD), a severe hereditary disease, affecting 1 boy out of 3500, mainly results from the deletion of one or more exons leading to a reading frame shift of the DMD gene that abrogates dystrophin protein synthesis.
Benjamin L Duchêne +8 more
semanticscholar +1 more source
Fhod3 in zebrafish supports myofibril stability during growth of embryonic skeletal muscle
Developmental Dynamics, EarlyView.Abstract Background Actin filament organization in cardiomyocytes critically depends on the formin Fhod3, but a role for Fhod3 in skeletal muscle development has not yet been described. Results We demonstrate here that in zebrafish mutated for one of two fhod3 paralog genes, fhod3a, skeletal muscle of the trunk appears normal through 2 days post ...
Aubrie Russell +3 more
wiley +1 more source
Dystrophinopathy with a <i>DMD</i> exon 49-50 deletion in a female patient who developed schizophrenia: An autopsy case. [PDF]
PCN RepAbstract Background Mutations in DMD affect not only muscles but also the brain. Cases of schizophrenia with DMD mutations have been described previously. Although female dystrophinopathy often has a milder phenotype, some affected females also have intellectual disabilities and psychiatric disorders.
Arafuka S +15 more
europepmc +2 more sources
Dystrophin As a Molecular Shock Absorber.
ACS Nano, 2018 Dystrophin is the largest protein isoform (427 kDa) expressed from the gene defective in Duchenne muscular dystrophy, a lethal muscle-wasting and genetically inherited disease.
Shimin Le +5 more
semanticscholar +1 more source
ESC Heart Failure, Volume 12, Issue 2, Page 1398-1415, April 2025.Abstract Background Cardiac remodelling, a crucial aspect of heart failure, is commonly investigated in preclinical models by quantifying cardiomyocyte cross‐sectional area (CSA) and microvascular density (MVD) via histological methods, such as immunohistochemistry.
Tamás G. Gergely +14 more
wiley +1 more source
Targeted Exon Skipping to Address “Leaky” Mutations in the Dystrophin Gene
Molecular Therapy: Nucleic Acids, 2012 Protein-truncating mutations in the dystrophin gene lead to the progressive muscle wasting disorder Duchenne muscular dystrophy, whereas in-frame deletions typically manifest as the milder allelic condition, Becker muscular dystrophy.
Sue Fletcher +9 more
doaj +1 more source
Epileptic Disorders, EarlyView.Abstract Background and Objectives Muscle‐Eye‐Brain disease (MEB) is a dystroglycanopathy that belongs to the congenital muscular dystrophies. Central nervous system manifestations include congenital brain abnormalities, neurodevelopmental delay, and epilepsy, making it a rare but important cause of developmental and epileptic encephalopathy.
Stefania Kalampokini +6 more
wiley +1 more source
Advance and cogitation of gene therapy for Duchenne muscular dystrophy
Chinese Journal of Contemporary Neurology and Neurosurgery, 2019 Duchenne muscular dystrophy (DMD) is the common hereditary muscular disease caused by the deficiency of cytoskeletal protein dystrophin on the sarcolemma.
Cheng ZHANG, Jin-fu LIN, Zi-yu LIAO
doaj
Genetic diagnosis as a tool for personalized treatment of Duchenne muscular dystrophy [PDF]
, 2016 Accurate definition of genetic mutations causing Duchenne muscular dystrophy (DMD) has always been relevant in order to provide genetic counseling to patients and families, and helps to establish the prognosis in the case where the distinction between ...
Bello, Luca, Pegoraro, Elena
core