AAV-mediated gene therapy in Dystrophin-Dp71 deficient mouse leads to blood-retinal barrier restoration and oedema reabsorption. (Q39545161)

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13 March 2020

title

AAV-mediated gene therapy in Dystrophin-Dp71 deficient mouse leads to blood-retinal barrier restoration and oedema reabsorption (English)

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13 March 2020

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Hugo Charles-Messance

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Ophélie Vacca

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Peggy Barbe

Peggy Barbe

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13 March 2020

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Abdoulaye Sene

Abdoulaye Sene

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Brahim El Mathari

Brahim El Mathari

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Stéphane Fouquet

Stéphane Fouquet

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author name string

Jorge Aragón

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13 March 2020

Marie Darche

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Audrey Giocanti-Aurégan

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Michel Paques

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Ramin Tadayoni

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Cecilia Montañez

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Alvaro Rendon

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publication date

10 June 2016

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13 March 2020

published in

Human Molecular Genetics

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volume

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issue

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page(s)

3070-3079

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Functional implication of Dp71 in osmoregulation and vascular permeability of the retina

13 March 2020

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A novel product of the Duchenne muscular dystrophy gene which greatly differs from the known isoforms in its structure and tissue distribution

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Dp71, the nonmuscle product of the Duchenne muscular dystrophy gene is associated with the cell membrane

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Localization of dystrophin isoform Dp71 to the inner limiting membrane of the retina suggests a unique functional contribution of Dp71 in the retina

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Targeted inactivation of Dp71, the major non-muscle product of the DMD gene: differential activity of the Dp71 promoter during development

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Kir4.1 and AQP4 associate with Dp71- and utrophin-DAPs complexes in specific and defined microdomains of Müller retinal glial cell membrane

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Dystroglycan and Kir4.1 coclustering in retinal Müller glia is regulated by laminin-1 and requires the PDZ-ligand domain of Kir4.1.

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Targeted inactivation of dystrophin gene product Dp71: phenotypic impact in mouse retina

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Dystrophin Dp71 gene deletion induces retinal vascular inflammation and capillary degeneration

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Expression of four alternative dystrophin transcripts in brain regions regulated by different promoters

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A 71-kilodalton protein is a major product of the Duchenne muscular dystrophy gene in brain and other nonmuscle tissues

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Identification of Dp71 isoforms in the platelet membrane cytoskeleton. Potential role in thrombin-mediated platelet adhesion

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A splice variant of Dp71 lacking the syntrophin binding site is expressed in early stages of human neural development

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Identification of Dp71e, a new dystrophin with a novel carboxy-terminal end

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The shortest isoform of dystrophin (Dp40) interacts with a group of presynaptic proteins to form a presumptive novel complex in the mouse brain

21 January 2018

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Immunogold evidence suggests that coupling of K+ siphoning and water transport in rat retinal Müller cells is mediated by a coenrichment of Kir4.1 and AQP4 in specific membrane domains

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A novel ATP-dependent inward rectifier potassium channel expressed predominantly in glial cells.

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Primer3 on the WWW for general users and for biologist programmers

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Identifiers

DOI

10.1093/HMG/DDW159

1 reference

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13 March 2020

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