Dystrophin Dp71 and the Neuropathophysiology of Duchenne Muscular Dystrophy
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DOI: 10.1007/s12035-019-01845-w
Abstract: Duchenne muscular dystrophy (DMD) is caused by frameshift mutations in the DMD gene that prevent the body-wide translation of its protein product, dystrophin. Besides a severe muscle phenotype, cognitive impairment and neuropsychiatric symptoms are prevalent.… read more here.
Keywords: muscular dystrophy; dp71; dp71 neuropathophysiology; dystrophin ... See more keywords
P.55 Brain involvement in Duchenne muscular dystrophy: a role for dystrophin isoform Dp71 in cell migration and proliferation
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DOI: 10.1016/j.nmd.2017.06.085
Abstract: Intelligence of individuals with Duchenne muscular dystrophy (DMD) is lower than the general population. Cognitive impairment, epilepsy, autism and attention deficit hyperactivity disorder are prevalent. Mounting evidence links these symptoms to the loss of dystrophin… read more here.
Keywords: isoform; dp71; proliferation; brain ... See more keywords
Dystrophin Genotype and Risk of Neuropsychiatric Disorders in Dystrophinopathies: A Systematic Review and Meta-Analysis
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Neuromuscular Diseases"
DOI: 10.3233/jnd-221586
Abstract: Background: Dystrophinopathies are associated with neuropsychiatric disorders due to alterations in dystrophin/DMD expression. Objective: The objective was to estimate the association of developmental disorders, autism spectrum disorders (ASD), attention deficit hyperactivity disorder (ADHD), depression, anxiety… read more here.
Keywords: meta analysis; genotype; dp140 dp71; neuropsychiatric disorders ... See more keywords
Dp71 Point Mutations Induce Protein Aggregation, Loss of Nuclear Lamina Integrity and Impaired Braf35 and Ibraf Function in Neuronal Cells
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms231911876
Abstract: Dystrophin Dp71 is the most abundant product of the Duchenne muscular dystrophy gene in the nervous system, and mutations impairing its function have been associated with the neurodevelopmental symptoms present in a third of DMD… read more here.
Keywords: function; braf35 ibraf; point mutations; neuronal cells ... See more keywords