Novel homozygous mutation in the FBXL4 gene is associated with mitochondria DNA depletion syndrome-13-Reference-Cited by-同舟云学术

Novel homozygous mutation in the FBXL4 gene is associated with mitochondria DNA depletion syndrome-13

Published:2020-09 Issue: Volume:416 Page:116948
ISSN:0022-510X
Container-title:Journal of the Neurological Sciences
language:en
Short-container-title:Journal of the Neurological Sciences

Author:

Wang Simei,Lin Longlong,Wang Yilin,Wang Anqi,Liu Zhao,Wu Shengnan,Lan Xiaoping,Jia Jia,Zhang Yuanfeng,Yuan Fang,Wang Chunmei,Luo Xiaona,Sun Xiaomin,Avula Sreenivas K.,Tolaymat Abdullah,Liu Changsheng,Ren Yun,Chen Yucai

Funder

National Natural Science Foundation of China

Shanghai Science and Technology Fund

Talent Introduction Fund of Shanghai Children's Hospital

Shanghai Municipal Commission of Health and Family Planning

Key disciplines of top priority in Shanghai

Shanghai Hospital Development Center

Research project of Shanghai Children's Hospital

Department of Neurology

Shanghai Children's Hospital

Publisher

Elsevier BV

Subject

Neurology (clinical),Neurology

Reference23 articles.

1. MtDNA-maintenance defects: syndromes and genes;Viscomi;J. Inherit. Metab. Dis.,2017

2. FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome;Almannai,1993

3. FBXL4 defects are common in patients with congenital lactic acidemia and encephalomyopathic mitochondrial DNA depletion syndrome;Dai;Clin. Genet.,2017

4. Molecular and clinical spectra of FBXL4 deficiency;El-Hattab;Hum. Mutat.,2017

5. Mitochondrial dynamics: biological roles, molecular machinery, and related diseases;El-Hattab;Mol. Genet. Metab.,2018

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1. New variant in the FBXL4 gene - leading to mitochondrial DNA depletion syndrome;J PEDIATR NEONATAL I;2024

2. FBXL4 protects against HFpEF through Drp1-Mediated regulation of mitochondrial dynamics and the downstream SERCA2a;Redox Biology;2024-04

3. Mitochondrial quality control alterations and placenta-related disorders;Frontiers in Physiology;2024-02-08

4. FBXL4 mutations cause excessive mitophagy via BNIP3/BNIP3L accumulation leading to mitochondrial DNA depletion syndrome;Cell Death & Differentiation;2023-08-11

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