Dystrophin Dp71 and the neuropathophysiology of Duchenne muscular dystrophy
M Naidoo, K Anthony - Molecular Neurobiology, 2020 - Springer
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 …
that prevent the body-wide translation of its protein product, dystrophin. Besides a severe …
Dystrophin Dp71: the smallest but multifunctional product of the Duchenne muscular dystrophy gene
R Tadayoni, A Rendon, LE Soria-Jasso… - Molecular …, 2012 - Springer
Dystrophin Dp71 is expressed in all tissues, with the exception of skeletal muscle, and is the
main Duchenne muscular dystrophy (DMD) gene product in brain. As full-length dystrophin …
main Duchenne muscular dystrophy (DMD) gene product in brain. As full-length dystrophin …
Role of mental retardation-associated dystrophin-gene product Dp71 in excitatory synapse organization, synaptic plasticity and behavioral functions
F Daoud, A Candelario-Martinez, JM Billard, A Avital… - PloS one, 2009 - journals.plos.org
Background Duchenne muscular dystrophy (DMD) is caused by deficient expression of the
cytoskeletal protein, dystrophin. One third of DMD patients also have mental retardation …
cytoskeletal protein, dystrophin. One third of DMD patients also have mental retardation …
Investigating the role of dystrophin isoform deficiency in motor function in Duchenne muscular dystrophy
M Chesshyre, D Ridout, Y Hashimoto… - Journal of Cachexia …, 2022 - Wiley Online Library
Background Duchenne muscular dystrophy (DMD) is caused by DMD mutations leading to
dystrophin loss. Full‐length Dp427 is the primary dystrophin isoform expressed in muscle …
dystrophin loss. Full‐length Dp427 is the primary dystrophin isoform expressed in muscle …
[HTML][HTML] Combining genetics, neuropsychology and neuroimaging to improve understanding of brain involvement in Duchenne muscular dystrophy-a narrative review
N Doorenweerd - Neuromuscular disorders, 2020 - Elsevier
Duchenne muscular dystrophy is a multifactorial disease including a cognitive phenotype. It
is caused by mutations in the X-chromosomal DMD gene from which dystrophin is …
is caused by mutations in the X-chromosomal DMD gene from which dystrophin is …
Loss of Dp140 regulatory sequences is associated with cognitive impairment in dystrophinopathies
Mental retardation is a clinical feature present in both Duchenne and Becker muscular
dystrophy patients and its pathogenesis is still unknown. Dp140 is a dystrophin isoform with …
dystrophy patients and its pathogenesis is still unknown. Dp140 is a dystrophin isoform with …
Timing and localization of human dystrophin isoform expression provide insights into the cognitive phenotype of Duchenne muscular dystrophy
N Doorenweerd, A Mahfouz, M van Putten… - Scientific reports, 2017 - nature.com
Duchenne muscular dystrophy (DMD) is a muscular dystrophy with high incidence of
learning and behavioural problems and is associated with neurodevelopmental disorders …
learning and behavioural problems and is associated with neurodevelopmental disorders …
Reduced levels of dystrophin associated proteins in the brains of mice deficient for Dp71
DS Greenberg, Y Schatz, Z Levy, P Pizzo… - Human molecular …, 1996 - academic.oup.com
Duchenne muscular dystrophy (DMD) is a progressive degenerative lethal muscle disease.
A significant proportion of DMD affected children suffer also from mental retardation. The rod …
A significant proportion of DMD affected children suffer also from mental retardation. The rod …
The neurobiology of Duchenne muscular dystrophy: learning lessons from muscle?
DJ Blake, S Kröger - Trends in neurosciences, 2000 - cell.com
Several forms of inherited muscular dystrophy are associated with brain abnormalities and
cognitive impairment. One of the most common and severe of these diseases is Duchenne …
cognitive impairment. One of the most common and severe of these diseases is Duchenne …
Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 …
F Daoud, N Angeard, B Demerre, I Martie… - Human molecular …, 2009 - academic.oup.com
The presence of variable degrees of cognitive impairment, extending from severe mental
retardation to specific deficits, in patients with dystrophinopathies is a well-recognized …
retardation to specific deficits, in patients with dystrophinopathies is a well-recognized …