4.6 Article

Mutations of Human NARS2, Encoding the Mitochondrial Asparaginyl-tRNA Synthetase, Cause Nonsyndromic Deafness and Leigh Syndrome

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Biochemistry & Molecular Biology

Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency

Abdulraheem Almalki et al.

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2014)

Review Biochemistry & Molecular Biology

Unsolved issues related to human mitochondrial diseases

Anne Lombes et al.

BIOCHIMIE (2014)

Editorial Material Medicine, Research & Experimental

Mixing and matching mitochondrial aminoacyl synthetases and their tRNAs: a new way to treat respiratory chain disorders?

Henna Tyynismaa et al.

EMBO MOLECULAR MEDICINE (2014)

Article Biochemistry & Molecular Biology

Mitochondria: Impaired mitochondrial translation in human disease

Veronika Boczonadi et al.

INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY (2014)

Review Clinical Neurology

A guide to diagnosis and treatment of Leigh syndrome

Fabian Baertling et al.

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2014)

Article Biochemistry & Molecular Biology

Analysis of two Arab families reveals additional support for a DFNB2 nonsyndromic phenotype of MYO7A

Salma Ben-Salem et al.

MOLECULAR BIOLOGY REPORTS (2014)

Article Biochemistry & Molecular Biology

A deafness-associated tRNAHis mutation alters the mitochondrial function, ROS production and membrane potential

Shasha Gong et al.

NUCLEIC ACIDS RESEARCH (2014)

Article Genetics & Heredity

A multicenter study on Leigh syndrome: disease course and predictors of survival

Kalliopi Sofou et al.

ORPHANET JOURNAL OF RARE DISEASES (2014)

Article Genetics & Heredity

Mutations in KARS, Encoding Lysyl-tRNA Synthetase, Cause Autosomal-Recessive Nonsyndromic Hearing Impairment DFNB89

Regie Lyn P. Santos-Cortez et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2013)

Review Medicine, Research & Experimental

Aminoacyl-tRNA synthetases in medicine and disease

Peng Yao et al.

EMBO MOLECULAR MEDICINE (2013)

Article Endocrinology & Metabolism

Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients

Denise Cassandrini et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2013)

Review Endocrinology & Metabolism

Mitochondrial aminoacyl-tRNA synthetases in human disease

Svetlana Konovalova et al.

MOLECULAR GENETICS AND METABOLISM (2013)

Review Biochemistry & Molecular Biology

Essential nontranslational functions of tRNA synthetases

Min Guo et al.

NATURE CHEMICAL BIOLOGY (2013)

Review Clinical Neurology

Molecular Genetic Testing for Mitochondrial Disease: From One Generation to the Next

Elizabeth McCormick et al.

NEUROTHERAPEUTICS (2013)

Article Otorhinolaryngology

Genetic Analysis through OtoSeq of Pakistani Families Segregating Prelingual Hearing Loss

Mohsin Shahzad et al.

OTOLARYNGOLOGY-HEAD AND NECK SURGERY (2013)

Article Biochemistry & Molecular Biology

Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy

Jenni M. Elo et al.

HUMAN MOLECULAR GENETICS (2012)

Article Genetics & Heredity

wANNOVAR: annotating genetic variants for personal genomes via the web

Xiao Chang et al.

JOURNAL OF MEDICAL GENETICS (2012)

Article Multidisciplinary Sciences

Predicting the Functional Effect of Amino Acid Substitutions and Indels

Yongwook Choi et al.

PLOS ONE (2012)

Article Biochemistry & Molecular Biology

Susceptibility to simvastatin-induced toxicity is partly determined by mitochondrial respiration and phosphorylation state of Akt

Peter J. Mullen et al.

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH (2011)

Article Biochemistry & Molecular Biology

Mitochondrial Aminoacyl-tRNA Synthetase Single-Nucleotide Polymorphisms That Lead to Defects in Refolding but Not Aminoacylation

Rajat Banerjee et al.

JOURNAL OF MOLECULAR BIOLOGY (2011)

Article Genetics & Heredity

A framework for variation discovery and genotyping using next-generation DNA sequencing data

Mark A. DePristo et al.

NATURE GENETICS (2011)

Article Multidisciplinary Sciences

Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome

Sarah B. Pierce et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2011)

Article Ophthalmology

Lentiviral Vector-Mediated PAX6 Overexpression Promotes Growth and Inhibits Apoptosis of Human Retinoblastoma Cells

Liang Li et al.

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2011)

Article Genetics & Heredity

DARS2 mutations in mitochondrial leucoencephalopathy and multiple sclerosis

P. Isohanni et al.

JOURNAL OF MEDICAL GENETICS (2010)

Article Biochemistry & Molecular Biology

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

Kai Wang et al.

NUCLEIC ACIDS RESEARCH (2010)

Article Biochemical Research Methods

Fast and accurate short read alignment with Burrows-Wheeler transform

Heng Li et al.

BIOINFORMATICS (2009)

Article Endocrinology & Metabolism

A novel NDUFA1 mutation leads to a progressive mitochondrial complex I-specific neurodegenerative disease

Prasanth Potluri et al.

MOLECULAR GENETICS AND METABOLISM (2009)

Review Clinical Neurology

Leigh and Leigh-Like Syndrome in Children and Adults

Josef Finsterer

PEDIATRIC NEUROLOGY (2008)

Article Biochemistry & Molecular Biology

Structural basis of the water-assisted asparagine recognition by asparaginyl-tRNA synthetase

Wataru Iwasaki et al.

JOURNAL OF MOLECULAR BIOLOGY (2006)

Article Biochemical Research Methods

The SWISS-MODEL workspace: a web-based environment for protein structure homology modelling

K Arnold et al.

BIOINFORMATICS (2006)

Article Multidisciplinary Sciences

Effect of protein structure on mitochondrial import

AJ Wilcox et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2005)

Review Cell Biology

Nonsense-mediated mRNA decay: terminating erroneous gene expression

KE Baker et al.

CURRENT OPINION IN CELL BIOLOGY (2004)

Article Biochemistry & Molecular Biology

Protein unfolding by the mitochondrial membrane potential

SH Huang et al.

NATURE STRUCTURAL BIOLOGY (2002)

Article Biochemical Research Methods

InterProScan - an integration platform for the signature-recognition methods in InterPro

EM Zdobnov et al.

BIOINFORMATICS (2001)