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PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder

Autor

Hirotomo Saitsu

Mitsuhiro Kato

Ayelet Eran

veröffentlicht in: Journal of Human Genetics

Erscheinungsdatum: 2017-01-12

Hauptthema: neurodegenerative Erkrankung

Zitiert Artikel 11

Datum

Titel

Autor

2015-03-25

Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome

Mariella Simon, William G. Newman, Vincent Procaccio, Thomas B. Friedman, Saima Riazuddin, Sheikh Riazuddin, Rashmi S Hegde, Shaheen Khan, Mohsin Shahzad, Elodie Richard, Tanveer A Qaiser, Sabiha Nazli, Arnold Starr
2015-02-01

Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2).

Michał Mińczuk, Christopher A. Powell, Sarah Vergult, Björn Menten
2014-10-23

Whole exome sequencing reveals mutations in NARS2 and PARS2, encoding the mitochondrial asparaginyl-tRNA synthetase and prolyl-tRNA synthetase, in patients with Alpers syndrome

Claes Gustafsson, Anders Oldfors
2013-01-26

Mitochondrial aminoacyl-tRNA synthetases in human disease

Henna Tyynismaa
2013-04

De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood

Taki Nishimura, Kazuhiro Muramatsu, Yoshinori Tsurusaki, Hirotomo Saitsu, Noboru Mizushima, Mitsuhiro Kato
2012-02-14

Hemiconvulsion-hemiplegia-epilepsy syndrome: current understandings

Pierre Gressens, Stéphane Auvin
2012-01-10

Phenotypic and genotypic variability in Alpers syndrome
2011-09-06

Human mitochondrial tRNAs: biogenesis, function, structural aspects, and diseases
2011-08-02

Mechanisms of mitochondrial diseases

Emil Ylikallio
2011-09-01

Hemiconvulsion-hemiplegia-epilepsy syndrome associated with CACNA1A S218L mutation.
2008-01-01

The role of aminoacyl-tRNA synthetases in genetic diseases

Eric D. Green, Anthony Antonellis

Artikel - wd:Q39026056

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