Functional analysis of a novel mutation in the TIMM8A gene that causes deafness‐dystonia‐optic neuronopathy syndrome-Reference-Cited by-同舟云学术

Functional analysis of a novel mutation in the TIMM8A gene that causes deafness‐dystonia‐optic neuronopathy syndrome

Published:2020-01-05 Issue:3 Volume:8 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Neighbors Addison¹²,Moss Tonya¹,Holloway Lynda¹,Yu Seok‐Ho¹,Annese Fran¹,Skinner Steve¹,Saneto Russell³,Steet Richard¹^ORCID

Affiliation:

1. Greenwood Genetic Center Greenwood SC USA

2. University of South Carolina School of Medicine Columbia SC USA

3. Program for Mitochondrial Medicine and Metabolism Division of Pediatric Neurology Neuroscience Institute Seattle's Children's Hospital University of Washington Seattle WA USA

Funder

School of Medicine, University of South Carolina

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1121

Reference33 articles.

1. A novel mutation in the gene encoding TIMM8a, a component of the mitochondrial protein translocase complexes, in a Spanish familial case of deafness-dystonia (Mohr–Tranebjaerg) syndrome

2. Bax/Bak-Dependent Release of DDP/TIMM8a Promotes Drp1-Mediated Mitochondrial Fission and Mitoptosis during Programmed Cell Death

3. Otopathology in Mohr-Tranebj??rg Syndrome

4. Genetic diagnosis as a tool for personalized treatment of Duchenne muscular dystrophy;Bello L.;Acta Myologica: Myopathies and Cardiomyopathies,2016

5. The Tim8–Tim13 Complex Has Multiple Substrate Binding Sites and Binds Cooperatively to Tim23

Cited by 15 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. Mitochondrial microproteins: critical regulators of protein import, energy production, stress response pathways, and programmed cell death;American Journal of Physiology-Cell Physiology;2023-10-01

2. HOXC13-driven TIMM13 overexpression promotes osteosarcoma cell growth;Cell Death & Disease;2023-07-05

3. Case report: Mohr-Tranebjaerg syndrome: hearing impairment as the onset of an insidious disorder with high recurrence risk;Frontiers in Neurology;2023-06-01

4. The translocase of the inner mitochondrial membrane 22-2 is required for mitochondrial membrane function during Arabidopsis seed development;Journal of Experimental Botany;2023-04-27

5. Identification of Timm13 protein translocase of the mitochondrial inner membrane as a potential mediator of liver fibrosis based on bioinformatics and experimental verification;Journal of Translational Medicine;2023-03-10