Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Molecular pathology of X linked retinoschisis: mutations interfere with retinoschisin secretion and oligomerisation

17 Dec 2005

Abstract excerpt

BACKGROUND/AIM: X linked retinoschisis (XLRS) is caused by mutations in RS1 which encodes the discoidin domain protein retinoschisin, secreted by photoreceptors and bipolar cells. Missense mutations occur throughout the gene and some of these are known to interfere with protein secretion. This study was designed to investigate the functional consequences of missense mutations at different locations in...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cell Adhesion Molecules Research
Share to Cellular transport and secretion

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Retinal Development and Disorders

Source

Identifiers

PMID: 16361673
DOI: 10.1136/bjo.2005.078048

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Molecular pathology of X linked retinoschisis: mutations interfere with retinoschisin secretion and oligomerisationPMID 16361673Read ↗

X-linked retinoschisis: an update.Semantic proximity Read ↗

Understanding variable disease severity in X-linked retinoschisis: Does RS1 secretory mechanism determine disease severity?Semantic proximity Read ↗

Defective discoidin domain structure, subunit assembly, and endoplasmic reticulum processing of retinoschisin are primary mechanisms responsible for X-linked retinoschisis.Semantic proximity Read ↗

Pathomechanism of mutated and secreted retinoschisin in X-linked juvenile retinoschisis.Semantic proximity Read ↗

X-linked juvenile retinoschisis: Clinical diagnosis, genetic analysis, and molecular mechanismsSemantic proximity Read ↗

Molecular Mechanisms Leading to Null-Protein Product from Retinoschisin (RS1) Signal-Sequence Mutants in X-Linked Retinoschisis (XLRS) DiseaseSemantic proximity Read ↗

Retinoschisin, the X-linked retinoschisis protein, is a secreted photoreceptor protein, and is expressed and released by Weri-Rb1 cellsSemantic proximity Read ↗

Advances in understanding the molecular structure of retinoschisin while questions remain of biological function.Semantic proximity Read ↗

Intracellular retention of mutant retinoschisin is the pathological mechanism underlying X-linked retinoschisis.Semantic proximity Read ↗

Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis.Semantic proximity Read ↗

Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis. The Retinoschisis Consortium.Semantic proximity Read ↗

Structural analysis of X-linked retinoschisis mutations reveals distinct classes which differentially effect retinoschisin function.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.