Leigh Disease
|
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 |
Leigh Disease
|
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 |
Leigh Disease
|
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 |
Leigh Disease
|
0.500 |
Biomarker
|
disease |
LHGDN |
Maternally-inherited Leigh syndrome-related mutations bolster mitochondrial-mediated apoptosis.
|
15228605 |
2004 |
Leigh Disease
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
A point mutation of mitochondrial ATPase 6 gene in Leigh syndrome.
|
11731285 |
2002 |
Leigh Disease
|
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 |
Leigh Disease
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndrome.
|
11245730 |
2001 |
Leigh Disease
|
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 |
Leigh Disease
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
A novel mtDNA mutation in the ATPase6 gene studied by E. coli modeling.
|
11382202 |
2000 |
Leigh Disease
|
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 |
Leigh Disease
|
0.500 |
GeneticVariation
|
disease |
UNIPROT |
De novo mtDNA nt 8993 (T-->G) mutation resulting in Leigh syndrome.
|
9556461 |
1998 |
Leigh Disease
|
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 |
Leigh Disease
|
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 |
Leigh Disease
|
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 |
Leigh Disease
|
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 |
Leigh Disease
|
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 |
Leigh Disease
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Leigh syndrome: clinical features and biochemical and DNA abnormalities.
|
8602753 |
1996 |
Leigh Disease
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Bilateral striatal necrosis with a novel point mutation in the mitochondrial ATPase 6 gene.
|
8554662 |
1995 |
Leigh Disease
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis.
|
7668837 |
1995 |
Leigh Disease
|
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 |
Leigh Disease
|
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 |
Leigh Disease
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
Bilateral striatal necrosis with a novel point mutation in the mitochondrial ATPase 6 gene.
|
8554662 |
1995 |
Leigh Disease
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
A T-->C mutation at nt 8993 of mitochondrial DNA in a child with Leigh syndrome.
|
8190310 |
1994 |
Leigh Disease
|
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 |
Leigh Disease
|
0.500 |
GeneticVariation
|
disease |
UNIPROT |
A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome.
|
8395787 |
1993 |