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

Mutations in VWA8 cause autosomal-dominant retinitis pigmentosa via aberrant mitophagy activation.

Journal of medical genetics - 1 Oct 2023

Kong Linghui, Chu Guoming, Ma Wei, Liang Jiajian, Liu Dan, Liu Qiushi, Wei Xiaowei, Jia Shanshan, Gu Hui, He Yiwen, Luo Wenting, Cao Songying, Zhou Xiaomeng, He Rong, Yuan Zhengwei

Abstract excerpt

BACKGROUND: Although retinitis pigmentosa (RP) is the most common type of hereditary retinal dystrophy, approximately 25%-45% of cases remain without a molecular diagnosis. von Willebrand factor A domain containing 8 (VWA8) encodes a mitochondrial matrix-targeted protein; its molecular function and pathogenic mechanism in RP remain unexplained. METHODS: Family members of patients with RP underwent ophthalmic...

Read the complete abstract on PubMed

Topics

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

Share to Adenosine Triphosphatases
Share to Mitophagy

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Pedigree

Share to Retinitis Pigmentosa

Share to Zebrafish

Share to Zebrafish Proteins

Source

Identifiers

PMID: 37012052
DOI: 10.1136/jmg-2022-108888

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations in VWA8 cause autosomal-dominant retinitis pigmentosa via aberrant mitophagy activation.PMID 37012052Read ↗

Mutations of 60 known causative genes in 157 families with retinitis pigmentosa based on exome sequencing.Semantic proximity Read ↗

Systematic study of ophthalmological findings in 10 patients with PEX1-mediated Zellweger spectrum disorder.Semantic proximity Read ↗

Identification of Novel Genomic-Variant Patterns of OR56A5, OR52L1, and CTSD in Retinitis Pigmentosa Patients by Whole-Exome Sequencing.Semantic proximity Read ↗

A novel PAX6 variant as the cause of aniridia in a Chinese patient with SRRRD.Semantic proximity Read ↗

Ocular Manifestations in Patients with Werner Syndrome.Semantic proximity Read ↗

Beware of Leigh Syndrome Pedigrees with MT-ATP6 Mutation Whose Primary Diagnosis is Retinitis PigmentosaSemantic proximity Read ↗

Whole-exome sequencing identifies OR2W3 mutation as a cause of autosomal dominant retinitis pigmentosa.Semantic proximity Read ↗

The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy.Semantic proximity Read ↗

Involvement of Innate Immune System in Late Stages of Inherited Photoreceptor Degeneration.Semantic proximity Read ↗

Whole-exome sequencing reveals a novel CHM gene mutation in a family with choroideremia initially diagnosed as retinitis pigmentosaSemantic proximity Read ↗

Autosomal dominant retinitis pigmentosa-associated gene PRPF8 is essential for hypoxia-induced mitophagy through regulating ULK1 mRNA splicing.Semantic proximity Read ↗

ADIPOR1 Is Mutated in Syndromic Retinitis Pigmentosa.Semantic proximity Read ↗

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