Clinical and molecular characterization of novel FARS2 variants causing neonatal mitochondrial disease.

Humans Infant Infant, Newborn Epilepsy / pathology Mitochondria / metabolism Mitochondrial Diseases / metabolism Mitochondrial Proteins / genetics Mutation Phenylalanine-tRNA Ligase / genetics RNA, Transfer / genetics RNA, Transfer, Phe / metabolism
FARS2 Functional assays Mitochondrial disease Mitochondrial phenylalanyl-tRNA synthetase Variant classification

Journal

Molecular genetics and metabolism
ISSN: 1096-7206
Titre abrégé: Mol Genet Metab
Pays: United States
ID NLM: 9805456

Informations de publication

Date de publication:
11 2023
Historique:
received: 14 06 2023
revised: 22 07 2023
accepted: 22 07 2023
medline: 14 11 2023
pubmed: 1 8 2023
entrez: 31 7 2023
Statut: ppublish

Résumé

FARS2 encodes the mitochondrial phenylalanyl-tRNA synthetase (mtPheRS), which is essential for charging mitochondrial (mt-) tRNA

Identifiants

DOI: 10.1016/j.ymgme.2023.107657 PMID: 37523899
pubmed: 37523899
pii: S1096-7192(23)00287-1
doi: 10.1016/j.ymgme.2023.107657
pii:
doi:

Substances chimiques

FARS2 protein, human EC 6.1.1.20
Mitochondrial Proteins 0
Phenylalanine-tRNA Ligase EC 6.1.1.20
RNA, Transfer 9014-25-9
RNA, Transfer, Phe 0

Types de publication

Case Reports Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

107657

Subventions

Organisme : NIGMS NIH HHS
ID : R01 GM125908
Pays : United States

Informations de copyright

Copyright © 2023 Elsevier Inc. All rights reserved.

Déclaration de conflit d'intérêts

Declaration of Competing Interest The authors have no conflicts of interest to disclose.

Auteurs

Wenqian Chen (W)

Department of Molecular Medicine, The Scripps Research Institute, La Jolla, CA 92037, USA.

Preeya Rehsi (P)

Metabolic Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

Kyle Thompson (K)

Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle Upon Tyne NE2 4HH, UK.

Mildrid Yeo (M)

Metabolic Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

Karen Stals (K)

Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.

Langping He (L)

Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle Upon Tyne NE2 4HH, UK; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle Upon Tyne NE1 4LP, UK.

Paul Schimmel (P)

Department of Molecular Medicine, The Scripps Research Institute, La Jolla, CA 92037, USA; The Scripps Florida Research Institute at the University of Florida, Jupiter, FL 33458, USA.

Zofia M A Chrzanowska-Lightowlers (ZMA)

Wellcome Centre for Mitochondrial Research, Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle Upon Tyne NE2 4HH, UK.

Emma Wakeling (E)

North East Thames Regional Genetic Service, Great Ormond Street Hospital NHS Foundation Trust, London, UK.

Robert W Taylor (RW)

Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle Upon Tyne NE2 4HH, UK; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle Upon Tyne NE1 4LP, UK. Electronic address: robert.taylor@ncl.ac.uk.

Bernhard Kuhle (B)

Department of Molecular Medicine, The Scripps Research Institute, La Jolla, CA 92037, USA; Department of Cellular Biochemistry, University Medical Center Göttingen, Göttingen 37073, Germany. Electronic address: bernhard.kuhle@med.uni-goettingen.de.

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Clinical and molecular characterization of...
questionsmedicales.fr › Personnes › Tranches d'âge › Nourrisson › Clinical and molecular characterization of...
questionsmedicales.fr › Personnes › Tranches d'âge › Nourrisson › Nouveau-né › Clinical and molecular characterization of...
questionsmedicales.fr › Maladies du système nerveux › Maladies du système nerveux central › Encéphalopathies › Épilepsie › Clinical and molecular characterization of...
questionsmedicales.fr › Cellules › Structures cellulaires › Fractions subcellulaires › Mitochondries › Clinical and molecular characterization of...
questionsmedicales.fr › Maladies métaboliques et nutritionnelles › Maladies métaboliques › Maladies mitochondriales › Clinical and molecular characterization of...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines mitochondriales › Clinical and molecular characterization of...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Clinical and molecular characterization of...
questionsmedicales.fr › Enzymes et coenzymes › Enzymes › Ligases › Carbon-oxygen ligases › Amino acyl-tRNA synthetases › Phenylalanine-tRNA ligase › Clinical and molecular characterization of...
questionsmedicales.fr › Acides nucléiques, nucléotides et nucléosides › Acides nucléiques › ARN › ARN de transfert › Clinical and molecular characterization of...
questionsmedicales.fr › Acides nucléiques, nucléotides et nucléosides › Acides nucléiques › ARN › ARN de transfert › ARN de transfert spécifiques des différents acides aminés › ARN de transfert de la phénylalanine › Clinical and molecular characterization of...