4 results for "Brahim El Mathari"

Residual Dp71 Expression Is Sufficient to Preserve Retinal Vascular Homeostasis in a Mouse Model of Duchenne Muscular Dystrophy

Brahim El Mathari; Julia Kuzniar; Ramin Tadayoni et al.

J, Vol. 9 No. 2 · 2026 · English · DOAJ

The dystrophin gene encodes multiple dystrophin isoforms with tissue-specific functions, including several shorter isoforms expressed in the central nervous system and retina. While Duchenne muscular dystrophy (DMD) has historically been characterized as a primary myopathy resulting from loss of…

Functional Implication of Dp71 in Osmoregulation and Vascular Permeability of the Retina

Abdoulaye Sene; Ramin Tadayoni; Thomas Pannicke et al.

PLoS ONE, Vol. 4 No. 10 · 2009 · English · PLOS Scopus

Functional alterations of Müller cells, the principal glia of the retina, are an early hallmark of most retina diseases and contribute to their further progression. The molecular mechanisms of these reactive Müller cell alterations, resulting in disturbed retinal homeostasis, remain largely…

Also available at: DOAJ

Col4a1 mutation generates vascular abnormalities correlated with neuronal damage in a mouse model of HANAC syndrome

Alix Trouillet; Henri Lorach; Elisabeth Dubus et al.

Neurobiology of Disease, Vol. 100 · 2017 · English · DOAJ Scopus

The HANAC syndrome is caused by mutations in the gene coding for collagen4a1, a major component of blood vessel basement membranes. Ocular symptoms include an increase in blood vessel tortuosity and occasional hemorrhages. To examine how vascular defects can affect neuronal function, we analyzed…