Article

An ABCA4 loss-of-function mutation causes a canine form of Stargardt disease

2018-05-25

Abstract excerpt

Autosomal recessive retinal degenerative diseases cause visual impairment and blindness in humans and dogs. Currently, no standard treatment is available but pioneering gene therapy-based canine models have been instrumental for clinical trials in humans. To study a novel form of retinal degeneration in Labrador retriever dogs with clinical signs indicating cone and rod degeneration, we used whole-genome sequencin...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 832fd0a1-d171-5ca2-ab73-11b121679d1f
DOI: 10.1101/329151

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

An ABCA4 loss-of-function mutation causes a canine form of Stargardt diseaseDOI 10.1101/329151Read

An ABCA4 loss-of-function mutation causes a canine form of Stargardt diseaseSemantic proximity Read

A Frameshift Mutation in Golden Retriever Dogs with Progressive Retinal Atrophy Endorses SLC4A3 as a Candidate Gene for Human Retinal DegenerationsSemantic proximity Read

The gene for Stargardt disease, ABCA4, is a major retinal gene: a mini-review.Semantic proximity Read

Abnormal Appearance of the Area Centralis in Labrador Retrievers With an ABCA4 Loss-of-function Mutation.Semantic proximity Read

Expression of ABCA4 in the retinal pigment epithelium and its implications for Stargardt macular degenerationSemantic proximity Read

The ATP-binding cassette transporter ABCA4: structural and functional properties and role in retinal disease.Semantic proximity Read

Clinical and genetic analyses reveal novel pathogenic ABCA4 mutations in Stargardt disease families.Semantic proximity Read

Structure and function of ABCA4 and its role in the visual cycle and Stargardt macular degeneration.Semantic proximity Read

Abca4 inhibition in a cone-rich rodent leads to Stargardt Disease type 1-like retinal degenerationSemantic proximity Read

Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations.Semantic proximity Read

Stargardt disease: clinical features, molecular genetics, animal models and therapeutic options.Semantic proximity Read

<strong>Deletion in the Bardet-Biedl Syndrome Gene <em>TTC8</em> Results in a Syndromic Retinal Degeneration in Dogs</strong>Semantic proximity Read