The importance of dystrophin and the dystrophin associated proteins in vascular smooth muscle

Autor: Katherine M. Kaplan, Kathleen G. Morgan

Publikováno v: Frontiers in Physiology, Vol 13 (2022)

This review details the role of dystrophin and the dystrophin associated proteins (DAPs) in the vascular smooth muscle. Dystrophin is most comprehensively studied in the skeletal muscle due to serious symptoms found related to the skeletal muscle of

Externí odkaz: https://doaj.org/article/9465f44461304ce29fce3bd1763a092d

Assessment of Behavioral Characteristics With Procedures of Minimal Human Interference in the mdx Mouse Model for Duchenne Muscular Dystrophy

Autor: Sarah Engelbeen, Annemieke Aartsma-Rus, Bastijn Koopmans, Maarten Loos, Maaike van Putten

Publikováno v: Frontiers in Behavioral Neuroscience, Vol 14 (2021)

Duchenne muscular dystrophy (DMD) is a severe, progressive neuromuscular disorder caused by mutations in the DMD gene resulting in loss of functional dystrophin protein. The muscle dystrophin isoform is essential to protect muscles from contraction-i

Externí odkaz: https://doaj.org/article/576239c750bc4b60925f8ffd945a434c

Advances in Stem Cell Modeling of Dystrophin-Associated Disease: Implications for the Wider World of Dilated Cardiomyopathy

Autor: Josè Manuel Pioner, Alessandra Fornaro, Raffaele Coppini, Nicole Ceschia, Leonardo Sacconi, Maria Alice Donati, Silvia Favilli, Corrado Poggesi, Iacopo Olivotto, Cecilia Ferrantini

Publikováno v: Frontiers in Physiology, Vol 11 (2020)

Familial dilated cardiomyopathy (DCM) is mostly caused by mutations in genes encoding cytoskeletal and sarcomeric proteins. In the pediatric population, DCM is the predominant type of primitive myocardial disease. A severe form of DCM is associated w

Externí odkaz: https://doaj.org/article/c88d4495593646f98d60cab2621f4ff5

Association Between Loss of Dp140 and Cognitive Impairment in Duchenne and Becker Dystrophies

Autor: Chamova T, Guergueltcheva V, Raycheva M, Todorov T, Genova J, Bichev S, Bojinova V, Mitev V, Tournev I, Todorova A

Publikováno v: Balkan Journal of Medical Genetics, Vol 16, Iss 1, Pp 21-29 (2013)

The presence of variable degrees of non progressive cognitive impairment is recognized as a clinical feature of patients with Duchenne and Becker muscular dystrophies (DMD and BMD), but its pathogenesis still remains a matter of debate. A number of f

Externí odkaz: https://doaj.org/article/6d9cc73939ca4c08935d43eb1b40a660

Advances in Stem Cell Modeling of Dystrophin-Associated Disease: Implications for the Wider World of Dilated Cardiomyopathy

Autor: Silvia Favilli, Nicole Ceschia, Cecilia Ferrantini, Raffaele Coppini, Alessandra Fornaro, Leonardo Sacconi, Iacopo Olivotto, Josè Manuel Pioner, Corrado Poggesi, Maria Alice Donati

Publikováno v: Frontiers in Physiology
Frontiers in Physiology, Vol 11 (2020)
Frontiers in physiology 11 (2020): 368-1–368-22. doi:10.3389/fphys.2020.00368
info:cnr-pdr/source/autori:Pioner, Josè Manuel; Fornaro, Alessandra; Coppini, Raffaele; Ceschia, Nicole; Sacconi, Leonardo; Donati, Maria Alice; Favilli, Silvia; Poggesi, Corrado; Olivotto, Iacopo; Ferrantini, Cecilia/titolo:Advances in Stem Cell Modeling of Dystrophin-Associated Disease: Implications for the Wider World of Dilated Cardiomyopathy/doi:10.3389%2Ffphys.2020.00368/rivista:Frontiers in physiology/anno:2020/pagina_da:368-1/pagina_a:368-22/intervallo_pagine:368-1–368-22/volume:11

Familial dilated cardiomyopathy (DCM) is mostly caused by mutations in genes encoding cytoskeletal and sarcomeric proteins. In the pediatric population, DCM is the predominant type of primitive myocardial disease. A severe form of DCM is associated w

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad73c59dcd815a8faeb77439a031a5d0
https://doi.org/10.3389/fphys.2020.00368