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

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

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http://www.wikidata.org/entity/Q28082057
Primary Mitochondrial Disease and Secondary Mitochondrial Dysfunction: Importance of Distinction for Diagnosis and TreatmentAn 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.A deafness-associated tRNAAsp mutation alters the m1G37 modification, aminoacylation and stability of tRNAAsp and mitochondrial function.Amazing structure of respirasome: unveiling the secrets of cell respiration.Mitochondrial Mutations in Cardiac Disorders.Classical and Novel TSPO Ligands for the Mitochondrial TSPO Can Modulate Nuclear Gene Expression: Implications for Mitochondrial Retrograde Signaling.A Deafness- and Diabetes-associated tRNA Mutation Causes Deficient Pseudouridinylation at Position 55 in tRNAGlu and Mitochondrial Dysfunction.The 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.A hypertension-associated mitochondrial DNA mutation alters the tertiary interaction and function of tRNALeu(UUR).Biochemical 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.Genetic Epidemiology of Mitochondrial Pathogenic Variants Causing Nonsyndromic Hearing Loss in a Large Cohort of South Indian Hearing Impaired Individuals.Mitochondrial haplogroup B increases the risk for hearing loss among the Eastern Asian pedigrees carrying 12S rRNA 1555A>G mutation.Biochemical evidence for a mitochondrial genetic modifier in the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation.Contribution of the tRNAIle 4317A>G mutation to the phenotypic manifestation of the deafness-associated mitochondrial 12S rRNA 1555A>G mutation.Mitochondrial DNA mutations associated with aminoglycoside induced ototoxicity.Clinical and Molecular Characteristics of Mitochondrial Dysfunction in Autism Spectrum Disorder
P2860

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

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http://www.wikidata.org/entity/Q28082057
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2015 nî lūn-bûn
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2015 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
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2015 թվականի դեկտեմբերին հրատարակված գիտական հոդված
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2015年の論文
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2015年学术文章
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2015年学术文章
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2015年学术文章
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2015年学术文章
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2015年学术文章
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A peep into mitochondrial diso ...... ons to nuclear gene modulation
@ast
A peep into mitochondrial diso ...... ons to nuclear gene modulation
@en
A peep into mitochondrial diso ...... ons to nuclear gene modulation
@nl
type
label
A peep into mitochondrial diso ...... ons to nuclear gene modulation
@ast
A peep into mitochondrial diso ...... ons to nuclear gene modulation
@en
A peep into mitochondrial diso ...... ons to nuclear gene modulation
@nl
prefLabel
A peep into mitochondrial diso ...... ons to nuclear gene modulation
@ast
A peep into mitochondrial diso ...... ons to nuclear gene modulation
@en
A peep into mitochondrial diso ...... ons to nuclear gene modulation
@nl
P1433
P1476
P2093
P275
P2860
P2888
P304
P31
P3181
P356
P407
P433
P478
P5008
P577
P5875
P6179
P698
P921
P932
P3181
P356
P1433
P1476
A peep into mitochondrial diso ...... ons to nuclear gene modulation
@en
P2093
P275
P2860
P2888
P304
P31
P3181
P356
P407
P433
P478
P5008
P577
P5875
P6179
P698
P921
P932