Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies-Reference-Cited by-全球学者库

Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies

Published:2015-11 Issue:5 Volume:97 Page:754-760
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Angebault Claire,Guichet Pierre-Olivier,Talmat-Amar Yasmina,Charif Majida,Gerber Sylvie,Fares-Taie Lucas,Gueguen Naig,Halloy François,Moore David,Amati-Bonneau Patrizia,Manes Gael,Hebrard Maxime,Bocquet Béatrice,Quiles Mélanie,Piro-Mégy Camille,Teigell Marisa,Delettre Cécile,Rossel Mireille,Meunier Isabelle,Preising Markus,Lorenz Birgit,Carelli Valerio,Chinnery Patrick F.,Yu-Wai-Man Patrick,Kaplan Josseline,Roubertie Agathe,Barakat Abdelhamid,Bonneau Dominique,Reynier Pascal,Rozet Jean-Michel,Bomont Pascale,Hamel Christian P.,Lenaers Guy

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference26 articles.

1. Dominant optic atrophy;Lenaers;Orphanet J. Rare Dis.,2012

2. The optic nerve: a “mito-window” on mitochondrial neurodegeneration;Maresca;Mol. Cell. Neurosci.,2013

3. Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy;Delettre;Nat. Genet.,2000

4. Improved locus-specific database for OPA1 mutations allows inclusion of advanced clinical data;Ferré;Hum. Mutat.,2015

5. OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract;Reynier;J. Med. Genet.,2004

Cited by 53 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Molecular Characterization and Subtyping of Breast Cancer Cell Lines Provide Novel Insights into Cancer Relevant Genes;Cells;2024-02-06

2. RTN4IP1 -associated non-syndromic optic neuropathy and rod-cone dystrophy;Ophthalmic Genetics;2024-01-15

3. Mitochondrial matrix RTN4IP1/OPA10 is an oxidoreductase for coenzyme Q synthesis;Nature Chemical Biology;2023-10-26

4. Reducing mitochondrial mysteries;Nature Chemical Biology;2023-10-26

5. High expression of RTN4IP1 predicts adverse prognosis for patients with breast cancer;Translational Cancer Research;2023-04