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

REEP6 deficiency leads to retinal degeneration through disruption of ER homeostasis and protein trafficking

20 Apr 2017

Abstract excerpt

Retinitis pigmentosa (RP) is the most common form of inherited retinal dystrophy. We recently identified mutations in REEP6, which encodes the receptor expression enhancing protein 6, in several families with autosomal recessive RP. REEP6 is related to the REEP and Yop1p family of ER shaping proteins and potential receptor accessory proteins, but the role of REEP6 in the retina is unknown. Here we characterize...

Read the complete abstract on PubMed

Topics

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

Share to Photoreceptor and optogenetics research
Share to Retinal Development and Disorders
Share to Retinal Diseases and Treatments

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 28475715
DOI: 10.1093/hmg/ddx149

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

REEP6 deficiency leads to retinal degeneration through disruption of ER homeostasis and protein traffickingPMID 28475715Read ↗

REEP6 deficiency impairs ER and Golgi morphologies and causes retinal degeneration by attenuating the expression of phototransduction proteinsSemantic proximity Read ↗

Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa.Semantic proximity Read ↗

REEP6 mediates trafficking of a subset of Clathrin-coated vesicles and is critical for rod photoreceptor function and survival.Semantic proximity Read ↗

Gene Therapy Rescues Retinal Degeneration in Receptor Expression-Enhancing Protein 6 Mutant Mice.Semantic proximity Read ↗

Transcript isoforms of Reep6 have distinct functions in the retina.Semantic proximity Read ↗

Knockout of mouse receptor accessory protein 6 leads to sperm function and morphology defects†.Semantic proximity Read ↗

A novel nonsense variant in REEP6 is involved in a sporadic rod-cone dystrophy case.Semantic proximity Read ↗

Clinical and genetic characterization of REEP6-associated retinopathy in a Japanese cohort.Semantic proximity Read ↗

Autosomal Recessive Retinitis Pigmentosa Associated with Three Novel REEP6 Variants in Chinese Population.Semantic proximity Read ↗

Endoplasmic reticulum stress and rhodopsin accumulation in an organoid model of Retinitis Pigmentosa carrying a RHO pathogenic variantSemantic proximity Read ↗

Endoplasmic reticulum stress in human photoreceptor diseases.Semantic proximity Read ↗

Subcellular localization of mutant P23H rhodopsin in an RFP fusion knockin mouse model of retinitis pigmentosaSemantic proximity Read ↗

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