Mutations in the mitochondrial tryptophanyl‐tRNA synthetase cause growth retardation and progressive leukoencephalopathy-Reference-Cited by-同舟云学术

Mutations in the mitochondrial tryptophanyl‐tRNA synthetase cause growth retardation and progressive leukoencephalopathy

Published:2019-03-28 Issue: Volume: Page:e654
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Maffezzini Camilla¹²,Laine Isabelle¹²,Dallabona Cristina³,Clemente Paula¹²,Calvo‐Garrido Javier¹⁴,Wibom Rolf²⁵,Naess Karin²⁵,Barbaro Michela⁴⁵,Falk Anna⁶,Donnini Claudia³,Freyer Christoph¹²⁵^ORCID,Wredenberg Anna¹²⁵^ORCID,Wedell Anna¹⁴⁵

Affiliation:

1. Max Planck Institute Biology of Ageing ‐ Karolinska Institutet Laboratory Stockholm Sweden

2. Department of Medical Biochemistry and Biophysics Karolinska Institutet Stockholm Sweden

3. Department of Chemistry, Life Sciences and Environmental Sustainability University of Parma Parma Italy

4. Department of Molecular Medicine and Surgery Karolinska Institutet Stockholm Sweden

5. Centre for Inherited Metabolic Diseases Karolinska University Hospital Stockholm Sweden

6. Department of Neuroscience Karolinska Institutet Stockholm Sweden

Funder

Fondazione Telethon

Ragnar Söderbergs stiftelse

Vetenskapsrådet

Stockholms Läns Landsting

Stiftelsen för Strategisk Forskning

Brain Foundation

Karolinska Institutet

Center for Outcomes Research and Evaluation, Yale School of Medicine

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.654

Reference40 articles.

1. Predicting Functional Effect of Human Missense Mutations Using PolyPhen‐2

2. In vivo analysis of mtDNA replication defects in yeast

3. A family of low and high copy replicative, integrative and single-strandedS. cerevisiae/E. coli shuttle vectors

4. Biallelic mutations in mitochondrial tryptophanyl-tRNA synthetase cause Levodopa-responsive infantile-onset Parkinsonism

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