Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy
出版年份 2012 全文链接
标题
Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy
作者
关键词
-
出版物
HUMAN MOLECULAR GENETICS
Volume 21, Issue 20, Pages 4521-4529
出版商
Oxford University Press (OUP)
发表日期
2012-07-25
DOI
10.1093/hmg/dds294
参考文献
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- (2012) Marjan E. Steenweg et al. BRAIN
- Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes
- (2012) Hanan E Shamseldin et al. JOURNAL OF MEDICAL GENETICS
- Mutations in the Mitochondrial Methionyl-tRNA Synthetase Cause a Neurodegenerative Phenotype in Flies and a Recessive Ataxia (ARSAL) in Humans
- (2012) Vafa Bayat et al. PLOS BIOLOGY
- Exome Sequencing Identifies Mitochondrial Alanyl-tRNA Synthetase Mutations in Infantile Mitochondrial Cardiomyopathy
- (2011) Alexandra Götz et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mechanisms of mitochondrial diseases
- (2011) Emil Ylikallio et al. ANNALS OF MEDICINE
- Human diseases with impaired mitochondrial protein synthesis
- (2011) Agnès Rötig BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS
- Mitochondrial Aminoacyl-tRNA Synthetase Single-Nucleotide Polymorphisms That Lead to Defects in Refolding but Not Aminoacylation
- (2011) Rajat Banerjee et al. JOURNAL OF MOLECULAR BIOLOGY
- Crystal Structure of Human Mitochondrial PheRS Complexed with tRNAPhe in the Active “Open” State
- (2011) Liron Klipcan et al. JOURNAL OF MOLECULAR BIOLOGY
- Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome
- (2011) S. B. Pierce et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Infantile mitochondrial encephalopathy
- (2011) Graziella Uziel et al. Seminars in Fetal & Neonatal Medicine
- Comparison of solution-based exome capture methods for next generation sequencing
- (2011) Anna-Maija Sulonen et al. GENOME BIOLOGY
- Mutation of the Mitochondrial Tyrosyl-tRNA Synthetase Gene, YARS2, Causes Myopathy, Lactic Acidosis, and Sideroblastic Anemia—MLASA Syndrome
- (2010) Lisa G. Riley et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Large-scale movement of functional domains facilitates aminoacylation by human mitochondrial phenylalanyl-tRNA synthetase
- (2009) Srujana S. Yadavalli et al. FEBS LETTERS
- The tRNA-Induced Conformational Activation of Human Mitochondrial Phenylalanyl-tRNA Synthetase
- (2008) Liron Klipcan et al. STRUCTURE
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