Literature DB >> 21815884

A novel homozygous mutation of DARS2 may cause a severe LBSL variant.

N Miyake, S Yamashita, K Kurosawa, S Miyatake, Y Tsurusaki, H Doi, H Saitsu, N Matsumoto.   

Abstract

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Year:  2011        PMID： 21815884     DOI： 10.1111/j.1399-0004.2011.01644.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  15 in total

Review 1.  Leukoencephalopathy with brain stem and spinal cord involvement (and high lactate): raising the bar for diagnosis.

Authors:  S Arthur Moore; Neeraj Kumar; Ralitza H Gavrilova
Journal:  J Neurol       Date:  2012-07-29       Impact factor: 4.849

Review 2.  Human aminoacyl-tRNA synthetases in diseases of the nervous system.

Authors:  Jana Ognjenović; Miljan Simonović
Journal:  RNA Biol       Date:  2017-06-30       Impact factor: 4.652

3.  Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy.

Authors:  Marisa I Mendes; Mariana Gutierrez Salazar; Kether Guerrero; Isabelle Thiffault; Gajja S Salomons; Laurence Gauquelin; Luan T Tran; Diane Forget; Marie-Soleil Gauthier; Quinten Waisfisz; Desiree E C Smith; Cas Simons; Marjo S van der Knaap; Iris Marquardt; Aida Lemes; Hanna Mierzewska; Bernhard Weschke; Wolfgang Koehler; Benoit Coulombe; Nicole I Wolf; Geneviève Bernard
Journal:  Am J Hum Genet       Date:  2018-03-22       Impact factor: 11.025

Review 4.  Neonatal mitochondrial leukoencephalopathy with brain and spinal involvement and high lactate: expanding the phenotype of ISCA2 gene mutations.

Authors:  Irene Toldo; Margherita Nosadini; Chiara Boscardin; Giacomo Talenti; Renzo Manara; Eleonora Lamantea; Andrea Legati; Daniele Ghezzi; Giorgio Perilongo; Stefano Sartori
Journal:  Metab Brain Dis       Date:  2018-01-23       Impact factor: 3.584

5.  Non-coding de novo mutations in chromatin interactions are implicated in autism spectrum disorder.

Authors:  Il Bin Kim; Taeyeop Lee; Junehawk Lee; Jonghun Kim; Suho Lee; In Gyeong Koh; Jae Hyun Kim; Joon-Yong An; Hyunseong Lee; Woo Kyeong Kim; Young Seok Ju; Yongseong Cho; Seok Jong Yu; Soon Ae Kim; Miae Oh; Dong Wook Han; Eunjoon Kim; Jung Kyoon Choi; Hee Jeong Yoo; Jeong Ho Lee
Journal:  Mol Psychiatry       Date:  2022-07-15       Impact factor: 13.437

6.  Compound Heterozygous DARS2 Mutations as a Mimic of Hereditary Spastic Paraplegia.

Authors:  Martje G Pauly; Yorck Hellenbroich; Kathrin Grundmann-Hauser; Frauke Hinrichs; Katja Lohmann; Norbert Brüggemann
Journal:  Mov Disord Clin Pract       Date:  2021-06-14

Review 7.  The Mitochondrial Aminoacyl tRNA Synthetases: Genes and Syndromes.

Authors:  Daria Diodato; Daniele Ghezzi; Valeria Tiranti
Journal:  Int J Cell Biol       Date:  2014-02-04

8.  Neurodegenerative disease-associated mutants of a human mitochondrial aminoacyl-tRNA synthetase present individual molecular signatures.

Authors:  Claude Sauter; Bernard Lorber; Agnès Gaudry; Loukmane Karim; Hagen Schwenzer; Frank Wien; Pierre Roblin; Catherine Florentz; Marie Sissler
Journal:  Sci Rep       Date:  2015-12-01       Impact factor: 4.379

9.  A novel DARS2 mutation in a Japanese patient with leukoencephalopathy with brainstem and spinal cord involvement but no lactate elevation.

Authors:  Keiko Shimojima; Takafumi Higashiguchi; Kanako Kishimoto; Satoko Miyatake; Noriko Miyake; Jun-Ichi Takanashi; Naomichi Matsumoto; Toshiyuki Yamamoto
Journal:  Hum Genome Var       Date:  2017-11-09

10.  Magnetic resonance imaging and genetic investigation of a case of Rottweiler leukoencephalomyelopathy.

Authors:  Katrin Hirschvogel; Kaspar Matiasek; Katharina Flatz; Michaela Drögemüller; Cord Drögemüller; Bärbel Reiner; Andrea Fischer
Journal:  BMC Vet Res       Date:  2013-03-26       Impact factor: 2.741
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