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。Heteroplasmic mitochondrial DNA mutations in normal and tumour cells
Yiping He et al.
NATURE (2010)
Acute Infantile Liver Failure Due to Mutations in the TRMU Gene
Avraham Zeharia et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
Single-Molecule LATE-PCR Analysis of Human Mitochondrial Genomic Sequence Variations
Adam Osborne et al.
PLOS ONE (2009)
Biogenesis of glutaminyl-mt tRNAGln in human mitochondria
Asuteka Nagao et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2009)
Modified uridines with c5-methylene substituents at the first position of the tRNA anticodon stabilize U•G wobble pairing during decoding
Shinya Kurata et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2008)
The A3243G tRNALeu(UUR) mutation induces mitochondrial dysfunction and variable disease expression without dominant negative acting translational defects in complex IV subunits at UUR codons
George M. C. Janssen et al.
HUMAN MOLECULAR GENETICS (2007)
Pathogenic mechanism of a human mitochondrial tRNAPhe mutation associated with myoclonic epilepsy with ragged red fibers syndrome
Jiqiang Ling et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)
Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations
Min-Xin Guan et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
Acquisition of the wobble modification in mitochondrial tRNALeu(CUN) bearing the G12300A mutation suppresses the MELAS molecular defect
Y Kirino et al.
HUMAN MOLECULAR GENETICS (2006)
Specific correlation between the wobble modification deficiency in mutant tRNAs and the clinical features of a human mitochondrial disease
Y Kirino et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2005)
Mitochondria-specific RNA-modifying enzymes responsible for the biosynthesis of the wobble base in mitochondrial tRNAs - Implications for the molecular pathogenesis of human mitochondrial diseases
N Umeda et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2005)
A pathogenesis-associated mutation in human mitochondrial tRNALeu(UUR) leads to reduced 3′-end processing and CCA addition
L Levinger et al.
JOURNAL OF MOLECULAR BIOLOGY (2004)
The pathogenic A4269G mutation in human mitochondrial tRNAIle alters the T-stem structure and decreases the binding affinity for elongation factor Tu
N Hino et al.
GENES TO CELLS (2004)
Assigning pathogenicity to mitochondrial tRNA mutations: when 'definitely maybe' is not good enough
R McFarland et al.
TRENDS IN GENETICS (2004)
Codon-specific translational defect caused by a wobble modification deficiency in mutant tRNA from a human mitochondrial disease
Y Kirino et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2004)
Aminoacylation properties of pathology-related human mitochondrial tRNALys variants
M Sissler et al.
RNA (2004)
Towards understanding human mitochondrial leucine aminoacylation identity
B Sohm et al.
JOURNAL OF MOLECULAR BIOLOGY (2003)
The pathogenic A3243G mutation in human mitochondrial tRNALeu(UUR) decreases the efficiency of aminoacylation
H Park et al.
BIOCHEMISTRY (2003)
Taurine as a constituent of mitochondrial tRNAs: new insights into the functions of taurine and human mitochondrial diseases
T Suzuki et al.
EMBO JOURNAL (2002)
An mtDNA mutation, 14453G→A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome
K Ravn et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2001)
Wobble modification defect in tRNA disturbs codon-anticodon interaction in a mitochondrial disease
T Yasukawa et al.
EMBO JOURNAL (2001)
Muscle-specific mutations accumulate with aging in critical human mtDNA control sites for replication
Y Wang et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2001)
Human mtDNA sublimons resemble rearranged mitochondrial genoms found in pathological states
OA Kajander et al.
HUMAN MOLECULAR GENETICS (2000)
The mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episode syndrome-associated human mitochondrial tRNALeu(UUR) mutation causes aminoacylation deficiency and concomitant reduced association of mRNA with ribosomes
A Chomyn et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2000)
Decreased aminoacylation of mutant tRNAs in MELAS but not in MERRF patients
GV Börner et al.
HUMAN MOLECULAR GENETICS (2000)
Defect in modification at the anticodon wobble nucleotide of mitochondrial tRNALys with the MERRF encephalomyopathy pathogenic mutation
T Yasukawa et al.
FEBS LETTERS (2000)
Modification defect at anticodon wobble nucleotide of mitochondrial tRNAsLeu(UUR) with pathogenic mutations of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
T Yasukawa et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2000)