Loss of SLC25A46 causes neurodegeneration by affecting mitochondrial dynamics and energy production in mice-Reference-Cited by-同舟云学术

Loss of SLC25A46 causes neurodegeneration by affecting mitochondrial dynamics and energy production in mice

Published:2017-07-06 Issue:19 Volume:26 Page:3776-3791
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Li Zhuo¹²,Peng Yanyan¹,Hufnagel Robert B.¹,Hu Yueh-Chiang³,Zhao Chuntao⁴,Queme Luis F.⁵,Khuchua Zaza⁶,Driver Ashley M.¹,Dong Fei⁷,Lu Q. Richard⁴,Lindquist Diana M.⁸,Jankowski Michael P.⁵,Stottmann Rolf W.¹,Kao Winston W.Y.⁷,Huang Taosheng¹

Affiliation:

1. Division of Human Genetics, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH 45229, USA

2. State Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan 410078, China

3. Division of Developmental Biology

4. Division of Experimental Hematology and Cancer Biology, Brain Tumor Center, Cancer and Blood Diseases Institute

5. Division of Anesthesia

6. Division of Molecular Cardiovascular Biology, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH 45229, USA

7. Department of Ophthalmology, University of Cincinnati, Cincinnati, OH 45267, USA

8. Department of Radiology, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH 45229, USA

Funder

National Institute of Health

Publisher

Oxford University Press (OUP)

Subject

Genetics (clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/26/19/3776/25420794/ddx262.pdf

Reference57 articles.

1. Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder;Abrams;Nat. Genet,2015

2. SLC25A46 mutations underlie progressive myoclonic ataxia with optic atrophy and neuropathy;Charlesworth;Mov. Disord,2016

3. SLC25A46 is required for mitochondrial lipid homeostasis and cristae maintenance and is responsible for Leigh syndrome;Janer;EMBO Mol. Med,2016

4. Novel pathogenic SLC25A46 splice-site mutation causes an optic atrophy spectrum disorder;Nguyen;Clin. Genet,2017

5. Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia;Wan;Brain,2016

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