Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features
出版年份 2016 全文链接
标题
Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features
作者
关键词
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出版物
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
Volume 113, Issue 38, Pages E5598-E5607
出版商
Proceedings of the National Academy of Sciences
发表日期
2016-09-07
DOI
10.1073/pnas.1609221113
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注意:仅列出部分参考文献,下载原文获取全部文献信息。- Oligodendrocyte generation during mouse development
- (2015) Hirohide Takebayashi et al. GLIA
- Loss of function mutation in glutamic pyruvate transaminase 2 (GPT2) causes developmental encephalopathy
- (2015) Katrina Celis et al. JOURNAL OF INHERITED METABOLIC DISEASE
- MetaboAnalyst 3.0—making metabolomics more meaningful
- (2015) Jianguo Xia et al. NUCLEIC ACIDS RESEARCH
- Neurodegeneration in Huntington's disease involves loss of cystathionine γ-lyase
- (2014) Bindu D Paul et al. CELL CYCLE
- Hereditary spastic paraplegia: Clinical-genetic characteristics and evolving molecular mechanisms
- (2014) Temistocle Lo Giudice et al. EXPERIMENTAL NEUROLOGY
- Mitochondrial trafficking and anchoring in neurons: New insight and implications
- (2014) Zu-Hang Sheng JOURNAL OF CELL BIOLOGY
- Brain to blood glutamate scavenging as a novel therapeutic modality: a review
- (2014) Matthew Boyko et al. JOURNAL OF NEURAL TRANSMISSION
- An RNA-Sequencing Transcriptome and Splicing Database of Glia, Neurons, and Vascular Cells of the Cerebral Cortex
- (2014) Y. Zhang et al. JOURNAL OF NEUROSCIENCE
- Cystathionine γ-lyase deficiency mediates neurodegeneration in Huntington’s disease
- (2014) Bindu D. Paul et al. NATURE
- Disturbed mitochondrial dynamics and neurodegenerative disorders
- (2014) Florence Burté et al. Nature Reviews Neurology
- Hereditary Spastic Paraplegia: Clinical Principles and Genetic Advances
- (2014) John Fink SEMINARS IN NEUROLOGY
- Mitochondrial disease and epilepsy
- (2013) Hoon-Chul Kang et al. BRAIN & DEVELOPMENT
- Genome engineering using the CRISPR-Cas9 system
- (2013) F Ann Ran et al. Nature Protocols
- Christianson Syndrome Protein NHE6 Modulates TrkB Endosomal Signaling Required for Neuronal Circuit Development
- (2013) Qing Ouyang et al. NEURON
- Mechanisms regulating the development of oligodendrocytes and central nervous system myelin
- (2013) S. Mitew et al. NEUROSCIENCE
- Sulfhydration mediates neuroprotective actions of parkin
- (2013) M. Scott Vandiver et al. Nature Communications
- A positive/negative ion–switching, targeted mass spectrometry–based metabolomics platform for bodily fluids, cells, and fresh and fixed tissue
- (2012) Min Yuan et al. Nature Protocols
- Protein–RNA interactions: new genomic technologies and perspectives
- (2012) Julian König et al. NATURE REVIEWS GENETICS
- Predicting the Functional Effect of Amino Acid Substitutions and Indels
- (2012) Yongwook Choi et al. PLoS One
- Genetic causes of microcephaly and lessons for neuronal development
- (2012) Edward C. Gilmore et al. Wiley Interdisciplinary Reviews-Developmental Biology
- Reductive carboxylation supports growth in tumour cells with defective mitochondria
- (2011) Andrew R. Mullen et al. NATURE
- Pyruvate carboxylase is required for glutamine-independent growth of tumor cells
- (2011) T. Cheng et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Developmental genetics of vertebrate glial–cell specification
- (2010) David H. Rowitch et al. NATURE
- A method and server for predicting damaging missense mutations
- (2010) Ivan A Adzhubei et al. NATURE METHODS
- ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
- (2010) K. Wang et al. NUCLEIC ACIDS RESEARCH
- Glutamate receptors, neurotoxicity and neurodegeneration
- (2010) Anthony Lau et al. PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY
- Mitochondrial metabolism and ROS generation are essential for Kras-mediated tumorigenicity
- (2010) F. Weinberg et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Synaptogenesis in the developing mouse visual cortex
- (2009) Mingshan Li et al. BRAIN RESEARCH BULLETIN
- Apoptosis and glutathione: beyond an antioxidant
- (2009) R Franco et al. CELL DEATH AND DIFFERENTIATION
- Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
- (2009) Prateek Kumar et al. Nature Protocols
- Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs
- (2008) Joshua M Korn et al. NATURE GENETICS
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