A peep into mitochondrial disorder: multifaceted from mitochondrial DNA mutations to nuclear gene modulation

scientific article

A peep into mitochondrial disorder: multifaceted from mitochondrial DNA mutations to nuclear gene modulation is …
instance of (P31):
review articleQ7318358
scholarly articleQ13442814

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P6179Dimensions Publication ID1026824811
P356DOI10.1007/S13238-015-0175-Z
P8608Fatcat IDrelease_2yry3ctfwfewrbp5d3cynbjese
P3181OpenCitations bibliographic resource ID4042468
P932PMC publication ID4656216
P698PubMed publication ID26084519
P5875ResearchGate publication ID278686218

P2093author name stringYe Chen
Min-Xin Guan
Chao Chen
P2860cites workMutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutationsQ24669653
Mitochondrial DNA mutations in human diseaseQ24676881
Modification defect at anticodon wobble nucleotide of mitochondrial tRNAs(Leu)(UUR) with pathogenic mutations of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodesQ28144145
Isolation and characterization of the putative nuclear modifier gene MTO1 involved in the pathogenesis of deafness-associated mitochondrial 12 S rRNA A1555G mutationQ28217558
Mitochondria: dynamic organelles in disease, aging, and developmentQ28249783
Declining NAD(+) induces a pseudohypoxic state disrupting nuclear-mitochondrial communication during agingQ28304473
A mitochondrial paradigm of metabolic and degenerative diseases, aging, and cancer: a dawn for evolutionary medicineQ29547303
The BCL-2 protein family: opposing activities that mediate cell deathQ29547380
Mitochondrial respiratory-chain diseasesQ29614474
Mitochondria: in sickness and in healthQ29614825
Autophagy and agingQ29616002
Mitochondria and cancerQ29616610
Mitochondrial stress engages E2F1 apoptotic signaling to cause deafnessQ30458185
Maternally inherited aminoglycoside-induced and nonsyndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large Chinese familyQ30499211
The severity of retinal pathology in homozygous Crb1rd8/rd8 mice is dependent on additional genetic factors.Q30607171
Nuclear background determines biochemical phenotype in the deafness-associated mitochondrial 12S rRNA mutationQ32069406
Extended guidelines for mtDNA typing of population data in forensic scienceQ33393056
Transfer RNA and human diseaseQ33703946
CREB activation induced by mitochondrial dysfunction is a new signaling pathway that impairs cell proliferationQ34085469
Signaling the mitochondrial unfolded protein responseQ34263419
Mutation in mitochondrial tRNALeu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafnessQ50537181
Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathiesQ59055292
A novel homozygous YARS2 mutation causes severe myopathy, lactic acidosis and sideroblastic anemia 2Q59697623
The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutationQ72205769
Progressive increase in mtDNA 3243A>G heteroplasmy causes abrupt transcriptional reprogrammingQ34281266
Identification and characterization of mouse GTPBP3 gene encoding a mitochondrial GTP-binding protein involved in tRNA modificationQ34284435
Maternally transmitted mitochondrial DNA mutations can reduce lifespanQ34311406
Human mitochondrial transcription factor B1 as a modifier gene for hearing loss associated with the mitochondrial A1555G mutationQ34316586
Mitochondrial-nuclear communicationsQ34574082
Mitochondria: releasing power for life and unleashing the machineries of deathQ35071387
Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathyQ35076141
Pedigree analysis in Leber hereditary optic neuropathy families with a pathogenic mtDNA mutationQ35643475
Mitochondrial signaling: the retrograde responseQ35739853
Two direct repeats cause most human mtDNA deletionsQ35864144
Calcium cycling and signaling in cardiac myocytes.Q36995547
Mitochondrial DNA genetics and the heteroplasmy conundrum in evolution and disease.Q37258708
Germline mitochondrial DNA mutations aggravate ageing and can impair brain developmentQ37288018
Mitochondrial retrograde signaling at the crossroads of tumor bioenergetics, genetics and epigeneticsQ37320456
Muscle mitohormesis promotes longevity via systemic repression of insulin signalingQ37377087
Human mitochondrial tRNAs: biogenesis, function, structural aspects, and diseasesQ37930666
Monogenic mitochondrial disordersQ37995644
Mitochondrial pathology: stress signals from the energy factoryQ38186376
Genetic modifiers of Huntington's diseaseQ38243002
VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathiesQ38995109
Mitochondria-to-nucleus stress signaling in mammalian cells: nature of nuclear gene targets, transcription regulation, and induced resistance to apoptosisQ40404993
Defect in modification at the anticodon wobble nucleotide of mitochondrial tRNA(Lys) with the MERRF encephalomyopathy pathogenic mutation.Q40900095
Biochemical evidence for nuclear gene involvement in phenotype of non-syndromic deafness associated with mitochondrial 12S rRNA mutationQ41187742
Congenital Visual Impairment and Progressive Microcephaly Due to Lysyl-Transfer Ribonucleic Acid (RNA) Synthetase (KARS) Mutations: The Expanding Phenotype of Aminoacyl-Transfer RNA Synthetase Mutations in Human DiseaseQ41929201
The isolated carboxy-terminal domain of human mitochondrial leucyl-tRNA synthetase rescues the pathological phenotype of mitochondrial tRNA mutations in human cellsQ41963195
The ROS-sensitive microRNA-9/9* controls the expression of mitochondrial tRNA-modifying enzymes and is involved in the molecular mechanism of MELAS syndrome.Q43978194
MtDNA mutation in MERRF syndrome causes defective aminoacylation of tRNA(Lys) and premature translation terminationQ46099938
Mitochondrial ribosomal RNA mutation associated with both antibiotic–induced and non–syndromic deafnessQ46157086
The mitochondrial genotype can influence nuclear gene expression in yeastQ48350472
A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathiesQ48836050
P275copyright licenseCreative Commons Attribution 4.0 InternationalQ20007257
P6216copyright statuscopyrightedQ50423863
P433issue12
P407language of work or nameEnglishQ1860
P921main subjectDNAQ7430
cellQ7868
nucleusQ40260
mitochondrial DNAQ27075
mitochondrionQ39572
mutationQ42918
genetic variationQ349856
mitochondrial diseaseQ935710
P5008on focus list of Wikimedia projectScienceSourceQ55439927
P304page(s)862-70
P577publication date2015-12-01
P1433published inProtein & CellQ26854012
P1476titleA peep into mitochondrial disorder: multifaceted from mitochondrial DNA mutations to nuclear gene modulation
P478volume6

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cites work (P2860)
Q38752245A Deafness- and Diabetes-associated tRNA Mutation Causes Deficient Pseudouridinylation at Position 55 in tRNAGlu and Mitochondrial Dysfunction.
Q37507554A deafness-associated tRNAAsp mutation alters the m1G37 modification, aminoacylation and stability of tRNAAsp and mitochondrial function.
Q40146692A hypertension-associated mitochondrial DNA mutation alters the tertiary interaction and function of tRNALeu(UUR).
Q37548906Amazing structure of respirasome: unveiling the secrets of cell respiration.
Q36376828An innovative strategy to clone positive modifier genes of defects caused by mtDNA mutations: MRPS18C as suppressor gene of m.3946G>A mutation in MT-ND1 gene
Q64264933Bilateral striatal necrosis due to homoplasmic mitochondrial 3697G>A mutation presents with incomplete penetrance and sex bias
Q40386722Biochemical Evidence for a Nuclear Modifier Allele (A10S) in TRMU (Methylaminomethyl-2-thiouridylate-methyltransferase) Related to Mitochondrial tRNA Modification in the Phenotypic Manifestation of Deafness-associated 12S rRNA Mutation
Q46515103Biochemical evidence for a mitochondrial genetic modifier in the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation.
Q38708545Classical and Novel TSPO Ligands for the Mitochondrial TSPO Can Modulate Nuclear Gene Expression: Implications for Mitochondrial Retrograde Signaling
Q57922552Clinical and Molecular Characteristics of Mitochondrial Dysfunction in Autism Spectrum Disorder
Q47653533Contribution of the tRNAIle 4317A>G mutation to the phenotypic manifestation of the deafness-associated mitochondrial 12S rRNA 1555A>G mutation
Q64767465Disease-Associated Genetic Variation in Human Mitochondrial Protein Import
Q40619874Genetic Epidemiology of Mitochondrial Pathogenic Variants Causing Nonsyndromic Hearing Loss in a Large Cohort of South Indian Hearing Impaired Individuals
Q55223565Mitochondrial DNA mutations associated with aminoglycoside induced ototoxicity.
Q38678063Mitochondrial Mutations in Cardiac Disorders
Q43197988Mitochondrial haplogroup B increases the risk for hearing loss among the Eastern Asian pedigrees carrying 12S rRNA 1555A>G mutation
Q28078384Primary Mitochondrial Disease and Secondary Mitochondrial Dysfunction: Importance of Distinction for Diagnosis and Treatment
Q38813517The exome sequencing identified the mutation in YARS2 encoding the mitochondrial tyrosyl-tRNA synthetase as a nuclear modifier for the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation

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