×
Entrez Id:
4508
Gene Symbol:
ATP6
ATP6
0.500
GeneticVariation
disease
BEFREE
Our findings expand the spectrum of mutations causing LS and emphasize the role of MTATP6 gene mutations in pathogenesis of LS .
16217706
2005
×
Entrez Id:
4508
Gene Symbol:
ATP6
ATP6
0.500
CausalMutation
disease
CLINVAR
Our findings expand the spectrum of mutations causing LS and emphasize the role of MTATP6 gene mutations in pathogenesis of LS .
16217706
2005
×
Entrez Id:
4508
Gene Symbol:
ATP6
ATP6
0.500
GeneticVariation
disease
LHGDN
Our findings expand the spectrum of mutations causing LS and emphasize the role of MTATP6 gene mutations in pathogenesis of LS .
16217706
2005
×
Entrez Id:
4508
Gene Symbol:
ATP6
ATP6
0.500
Biomarker
disease
LHGDN
Maternally-inherited Leigh syndrome-related mutations bolster mitochondrial-mediated apoptosis.
15228605
2004
×
Entrez Id:
4508
Gene Symbol:
ATP6
ATP6
0.500
CausalMutation
disease
CLINVAR
A point mutation of mitochondrial ATPase 6 gene in Leigh syndrome.
11731285
2002
×
Entrez Id:
4508
Gene Symbol:
ATP6
ATP6
0.500
Biomarker
disease
BEFREE
This gives strong support to the relevance of MTATP6 dysfunction in Leigh syndrome and the importance of leucine at that position.
11731285
2002
×
Entrez Id:
4508
Gene Symbol:
ATP6
ATP6
0.500
CausalMutation
disease
CLINVAR
The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndrome.
11245730
2001
×
Entrez Id:
4508
Gene Symbol:
ATP6
ATP6
0.500
GeneticVariation
disease
BEFREE
The first patient with a limb-girdle-type myopathy carried an A3302G substitution in the tRNA(Leu(UUR)) gene (70% heteroplasmy), the second patient with mitochondrial myopathy and cardiomyopathy carried a T3271C mutation in the tRNA(Leu(UUR)) gene (80% heteroplasmy) and the third patient with Leigh syndrome carried a T9176C mutation in the ATPase6 gene (93% heteroplasmy).
11024191
2000
×
Entrez Id:
4508
Gene Symbol:
ATP6
ATP6
0.500
CausalMutation
disease
CLINVAR
A novel mtDNA mutation in the ATPase6 gene studied by E. coli modeling.
11382202
2000
×
Entrez Id:
4508
Gene Symbol:
ATP6
ATP6
0.500
CausalMutation
disease
CLINVAR
The T9176G mutation of human mtDNA gives a fully assembled but inactive ATP synthase when modeled in Escherichia coli.
11119722
2000
×
Entrez Id:
4508
Gene Symbol:
ATP6
ATP6
0.500
GeneticVariation
disease
UNIPROT
De novo mtDNA nt 8993 (T-->G) mutation resulting in Leigh syndrome.
9556461
1998
×
Entrez Id:
4508
Gene Symbol:
ATP6
ATP6
0.500
GeneticVariation
disease
BEFREE
Point mutations within the ATPase6 gene result in either neuropathy, ataxia and retinitis pigmentosa (NARP) or in Leigh's syndrome .
9511882
1998
×
Entrez Id:
4508
Gene Symbol:
ATP6
ATP6
0.500
CausalMutation
disease
CLINVAR
Confirmation that a T-to-C mutation at 9176 in mitochondrial DNA is an additional candidate mutation for Leigh's syndrome.
9631394
1998
×
Entrez Id:
4508
Gene Symbol:
ATP6
ATP6
0.500
GeneticVariation
disease
UNIPROT
Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene.
9501263
1998
×
Entrez Id:
4508
Gene Symbol:
ATP6
ATP6
0.500
GeneticVariation
disease
UNIPROT
These data confirm the association of the T9176C mutation with LS and extend the clinical heterogeneity of mutations in the ATPase 6 gene.
9270604
1997
×
Entrez Id:
4508
Gene Symbol:
ATP6
ATP6
0.500
CausalMutation
disease
CLINVAR
These data confirm the association of the T9176C mutation with LS and extend the clinical heterogeneity of mutations in the ATPase 6 gene.
9270604
1997
×
Entrez Id:
4508
Gene Symbol:
ATP6
ATP6
0.500
CausalMutation
disease
CLINVAR
Leigh syndrome: clinical features and biochemical and DNA abnormalities.
8602753
1996
×
Entrez Id:
4508
Gene Symbol:
ATP6
ATP6
0.500
CausalMutation
disease
CLINVAR
Bilateral striatal necrosis with a novel point mutation in the mitochondrial ATPase 6 gene.
8554662
1995
×
Entrez Id:
4508
Gene Symbol:
ATP6
ATP6
0.500
CausalMutation
disease
CLINVAR
A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis.
7668837
1995
×
Entrez Id:
4508
Gene Symbol:
ATP6
ATP6
0.500
GeneticVariation
disease
BEFREE
We report a new case of Leigh disease (subacute necrotizing encephalomyelopathy ) in a girl with mitochondrial DNA (mtDNA) mutation in the ATPase6 gene at nucleotide position 8993.
8750605
1995
×
Entrez Id:
4508
Gene Symbol:
ATP6
ATP6
0.500
GeneticVariation
disease
BEFREE
The mutation in the mitochondrial ATP synthase subunit 6 gene (ATP6 T8993G ) was identified in a male infant who died at age 15 months of Leigh syndrome .
7649544
1995
×
Entrez Id:
4508
Gene Symbol:
ATP6
ATP6
0.500
GeneticVariation
disease
CLINVAR
Bilateral striatal necrosis with a novel point mutation in the mitochondrial ATPase 6 gene.
8554662
1995
×
Entrez Id:
4508
Gene Symbol:
ATP6
ATP6
0.500
CausalMutation
disease
CLINVAR
A T-->C mutation at nt 8993 of mitochondrial DNA in a child with Leigh syndrome.
8190310
1994
×
Entrez Id:
4508
Gene Symbol:
ATP6
ATP6
0.500
GeneticVariation
disease
BEFREE
Cytoplasmic transfer of the mtDNA nt 8993 T-->G (ATP6 ) point mutation associated with Leigh syndrome into mtDNA-less cells demonstrates cosegregation with a decrease in state III respiration and ADP/O ratio.
8078883
1994
×
Entrez Id:
4508
Gene Symbol:
ATP6
ATP6
0.500
GeneticVariation
disease
UNIPROT
A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome.
8395787
1993