Literature DB >> 31106652

FARS2 Causing Complex Hereditary Spastic Paraplegia With Dysphonia: Expanding the Disease Spectrum.

Eva B Forman1,2, Kathleen M Gorman1,2, Sean Ennis2, Mary D King1,2.   

Abstract

Herein we present two siblings with hereditary spastic paraplegia caused by novel compound heterozygous variant and deletion in FARS2 and expansion of the disease spectrum to include dysphonia.

Entities:  

Keywords:  CNV; FARS2; hereditary spastic paraplegia

Year:  2019        PMID： 31106652     DOI： 10.1177/0883073819846805

Source DB:  PubMed          Journal:  J Child Neurol        ISSN： 0883-0738            Impact factor:   1.987


  3 in total

1.  Neuropathy-associated Fars2 deficiency affects neuronal development and potentiates neuronal apoptosis by impairing mitochondrial function.

Authors:  Xihui Chen; Fangfang Liu; Bowen Li; Yufeng Wang; Lijuan Yuan; Anan Yin; Qi Chen; Weihong Hu; Yan Yao; Mengjie Zhang; YuanMing Wu; Kun Chen
Journal:  Cell Biosci       Date:  2022-07-06       Impact factor: 9.584

2.  Two Chinese siblings of combined oxidative phosphorylation deficiency 14 caused by compound heterozygous variants in FARS2.

Authors:  Liangshan Li; Jianhua Ma; Jingli Wang; Liping Dong; Shiguo Liu
Journal:  Eur J Med Res       Date:  2022-09-26       Impact factor: 4.981

3.  Breaking a single hydrogen bond in the mitochondrial tRNAPhe -PheRS complex leads to phenotypic pleiotropy of human disease.

Authors:  Moshe Peretz; Dmitry Tworowski; Ekaterine Kartvelishvili; John Livingston; Zofia Chrzanowska-Lightowlers; Mark Safro
Journal:  FEBS J       Date:  2020-03-18       Impact factor: 5.622
  3 in total

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