Identification of ataxia-associated mtDNA mutations (m.4052T>C and m.9035T>C) and evaluation of their pathogenicity in transmitochondrial cybrids.

Identification of ataxia-associated mtDNA mutations (m.4052T>C and m.9035T>C) and evaluation of their pathogenicity in transmitochondrial cybrids.

Item
http://www.wikidata.org/entity/Q39821800
Adult-onset spinocerebellar ataxia syndromes due to MTATP6 mutationsMitochondrial ATP synthase: architecture, function and pathology.A method for mutagenesis of mouse mtDNA and a resource of mouse mtDNA mutations for modeling human pathological conditions.Nanomicellar formulation of coenzyme Q10 (Ubisol-Q10) effectively blocks ongoing neurodegeneration in the mouse 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine model: potential use as an adjuvant treatment in Parkinson's disease.The emergence of the mitochondrial genome as a partial regulator of nuclear function is providing new insights into the genetic mechanisms underlying age-related complex disease.Alteration of structure and function of ATP synthase and cytochrome c oxidase by lack of Fo-a and Cox3 subunits caused by mitochondrial DNA 9205delTA mutation.A randomized trial of coenzyme Q10 in mitochondrial disorders.An integrated approach for classifying mitochondrial DNA variants: one clinical diagnostic laboratory's experience.Mitochondrial genome variability: the effect on cellular functional activity.ATP Synthase Diseases of Mitochondrial Genetic Origin.
P2860

Identification of ataxia-associated mtDNA mutations (m.4052T>C and m.9035T>C) and evaluation of their pathogenicity in transmitochondrial cybrids.

Item
http://www.wikidata.org/entity/Q39821800
description
2009 nî lūn-bûn
@nan
2009年の論文
@ja
2009年学术文章
@wuu
2009年学术文章
@zh-cn
2009年学术文章
@zh-hans
2009年学术文章
@zh-my
2009年学术文章
@zh-sg
2009年學術文章
@yue
2009年學術文章
@zh
2009年學術文章
@zh-hant
name
Identification of ataxia-assoc ...... in transmitochondrial cybrids.
@en
Identification of ataxia-associated mtDNA mutations
@nl
type
label
Identification of ataxia-assoc ...... in transmitochondrial cybrids.
@en
Identification of ataxia-associated mtDNA mutations
@nl
prefLabel
Identification of ataxia-assoc ...... in transmitochondrial cybrids.
@en
Identification of ataxia-associated mtDNA mutations
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P356
P1433
P1476
Identification of ataxia-assoc ...... in transmitochondrial cybrids
@en
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P5875
P698