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

OPA1 haploinsufficiency due to a novel splicing variant resulting in mitochondrial dysfunction without mitochondrial DNA depletion.

Ophthalmic genetics - 1 Feb 2021

Sun Chuanbin, Wu Xiaoyu, Bai Hai-Xia, Wang Chenghui, Liu Zhe, Yang Chenxi, Lu Yijun, Jiang Pingping

Abstract excerpt

Background: To identify and investigate the effects of a novel splicing variant, c.1444-2A>C of OPA1, on its transcript, translation, and mitochondrial function, which was found in an 8-year-old patient with dominantly inherited optic atrophy (DOA). Materials and Methods: The clinical evaluations were performed at the Eye Center. Lymphoblast cell lines were generated from the patient, mother, and a normal control...

Read the complete abstract on PubMed

Topics

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

Share to Case-Control Studies
Share to DNA, Mitochondrial

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to GTP Phosphohydrolases

Share to Haploinsufficiency

Share to Mitochondria

Share to Optic Atrophy, Autosomal Dominant

Share to Prognosis

Share to RNA Splicing

Source

Identifiers

PMID: 33251885
DOI: 10.1080/13816810.2020.1849313

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

OPA1 haploinsufficiency due to a novel splicing variant resulting in mitochondrial dysfunction without mitochondrial DNA depletion.PMID 33251885Read ↗

A novel ADOA-associated OPA1 mutation alters the mitochondrial function, membrane potential, ROS production and apoptosis.Semantic proximity Read ↗

OPA1: How much do we know to approach therapy?Semantic proximity Read ↗

Characterisation of a novel OPA1 splice variant resulting in cryptic splice site activation and mitochondrial dysfunction.Semantic proximity Read ↗

Changes in Mitochondrial Morphology and Bioenergetics in Human Lymphoblastoid Cells With Four Novel OPA1 Mutations.Semantic proximity Read ↗

Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations.Semantic proximity Read ↗

OPA1 mutation affects autophagy and triggers senescence in autosomal dominant optic atrophy plus fibroblasts.Semantic proximity Read ↗

OPA1 (Kjer type) dominant optic atrophy: a novel mitochondrial disease.Semantic proximity Read ↗

The OPA1 Gene Mutations Are Frequent in Han Chinese Patients with Suspected Optic Neuropathy.Semantic proximity Read ↗

Pathogenicity evaluation and the genotype-phenotype analysis of OPA1 variants.Semantic proximity Read ↗

Dominant optic atrophy: updates on the pathophysiology and clinical manifestations of the optic atrophy 1 mutation.Semantic proximity Read ↗

Novel OPA1 mutations identified in Japanese pedigrees with optic atrophy.Semantic proximity Read ↗

A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy.Semantic proximity Read ↗

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