Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

eOPA1: an online database for OPA1 mutations.

Marc Ferré1, Patrizia Amati-Bonneau, Yves Tourmen

  • 1INSERM-E0018, Laboratoire de Biochimie et Biologie Moléculaire, CHU Angers, France. marc.ferre@med.univ-angers.fr

Human Mutation
|April 16, 2005
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Endometrial metabolomic profiling reveals disruption of fatty-acid metabolism in unexplained recurrent pregnancy loss.

Reproductive biomedicine online·2026
Same author

Melas mimicking hydrocephalus.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·2026
Same author

High-Resolution Imaging Reveals Mitochondrial Protein Imbalance in Sperm of Oligoasthenospermic Men.

Molecular reproduction and development·2026
Same author

A dataset of patients with isolated and syndromic optic neuropathies linked to RTN4IP1 genetic variants.

Scientific data·2026
Same author

Omics in hereditary optic neuropathies: A systematic review of clinical studies with an integrated point of view.

Survey of ophthalmology·2026
Same author

Analysis of mitochondrial DNA heteroplasmy in sporadic ALS suggests technical limitations rather than disease association.

Neurobiology of disease·2026
Same journal

RETRACTION: "Differential Effects of AKT1(p.E17K) Expression on Human Mammary Luminal Epithelial and Myoepithelial Cells".

Human mutation·2026
Same journal

Diagnostic Yield of Genome Sequencing in an Iranian Exome-Negative Autosomal-Recessive Intellectual Disability Cohort.

Human mutation·2026
Same journal

Exploring the Functional Impact of Individual <i>DDX41</i> Variants With a Fast and Robust Cell-Based Method.

Human mutation·2026
Same journal

Modeling the Effects of Single Nucleotide Polymorphisms (SNPs) on the Structure and Function of the Human <i>RET</i> Gene: An In Silico Study.

Human mutation·2026
Same journal

Driver Mutation Subtypes Differentially Shape Immune Evasion Landscapes in Melanoma: An AI-Driven Inflammatory Pathway Model Implicating CCNE1.

Human mutation·2026
Same journal

Comment on "When the Outcome Contains the Exposure: Methodological Limits of a Genome-Wide Cross-Trait Analysis of Type 2 Diabetes and MASLD".

Human mutation·2026
See all related articles

Autosomal dominant optic atrophy (ADOA) is a genetic eye disease. A new database, eOPA1, catalogs OPA1 gene mutations to aid in understanding and diagnosing this condition.

Area of Science:

  • Genetics
  • Ophthalmology
  • Bioinformatics

Background:

  • Autosomal dominant optic atrophy (ADOA), or Kjer disease, causes vision loss starting in childhood.
  • It is linked to mutations in the OPA1 gene, with 83 mutations reported, suggesting haploinsufficiency is a key factor.

Purpose of the Study:

  • To introduce eOPA1, a new locus-specific database (LSDB) for collecting OPA1 gene variations.
  • To provide a centralized, accessible resource for OPA1 mutations and nonpathogenic sequence variants (NPSVs).

Main Methods:

  • Development of the eOPA1 database (http://lbbma.univ-angers.fr/eOPA1/).
  • Designed for rapid submission of published and unpublished sequence variations in OPA1.
  • Secured online catalog for mutations and NPSVs.

Related Experiment Videos

Main Results:

  • The eOPA1 database is now available online.
  • It serves as a repository for OPA1 sequence variations.

Conclusions:

  • The eOPA1 LSDB will facilitate molecular diagnosis of ADOA.
  • It will support large-scale mutation analysis and genotype-phenotype correlation studies for ADOA.