|
Optic Atrophy, Hereditary, Leber
|
0.700 |
Biomarker
|
disease |
HPO |
|
|
|
|
Optic Atrophy, Hereditary, Leber
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
High frequency of mitochondrial ND4 gene mutation in Japanese pedigrees with Leber hereditary optic neuropathy.
|
1635296 |
1992 |
|
Optic Atrophy, Hereditary, Leber
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Mitochondrial DNA mutation in an Italian family with Leber hereditary optic neuropathy.
|
1937476 |
1991 |
|
Optic Atrophy, Hereditary, Leber
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Electron transfer properties of NADH:ubiquinone reductase in the ND13460 and the ND411778 mutations of the Leber hereditary optic neuroretinopathy (LHON).
|
1959619 |
1991 |
|
Optic Atrophy, Hereditary, Leber
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Electron transfer properties of NADH:ubiquinone reductase in the ND13460 and the ND411778 mutations of the Leber hereditary optic neuroretinopathy (LHON).
|
1959619 |
1991 |
|
Optic Atrophy, Hereditary, Leber
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Detection of the G to A mitochondrial DNA mutation at position 11778 in German families with Leber's hereditary optic neuropathy.
|
1959931 |
1991 |
|
Optic Atrophy, Hereditary, Leber
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
These studies provide the first direct evidence that not all LHON lineages--even those associated with a biochemical defect in mitochondrial respiratory chain Complex I--carry a mutation in the ND4 gene.
|
2121024 |
1990 |
|
Optic Atrophy, Hereditary, Leber
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Analysis of mitochondrial ND4 gene DNA sequence in Finnish families with Leber hereditary optic neuroretinopathy.
|
2286378 |
1990 |
|
Optic Atrophy, Hereditary, Leber
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy.
|
3201231 |
1988 |
|
Optic Atrophy, Hereditary, Leber
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A guanine(G) to adenine(A) transition was recently identified at the 11778th nucleotide position in the NADH dehydrogenase subunit 4 gene (ND4) in the mitochondrial genome of LHON patients from various ethnic groups.
|
8099825 |
1993 |
|
Optic Atrophy, Hereditary, Leber
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
High frequency of mutations at position 11778 in mitochondrial ND4 gene in Japanese families with Leber's hereditary optic neuropathy.
|
8103501 |
1993 |
|
Optic Atrophy, Hereditary, Leber
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
However, RRF and lactic acidosis are absent in Leber hereditary optic neuropathy (LHON) (one point mutation affecting ND4 gene, two point mutations affecting ND1 gene, and one point mutation affecting the apocytochrome b subunit of complex III), and the condition associated with maternally inherited sensory neuropathy (N), ataxia (A), retinitis pigmentosa (RP), developmental delay, dementia, seizures, and limb weakness (NARP) (point mutation affecting ATPase subunit 6 gene).
|
8338207 |
1993 |
|
Optic Atrophy, Hereditary, Leber
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Leber hereditary optic neuropathy (LHON) has been associated with a mitochondrial mutation at position 11,778 in the ND4 gene in about 50% of families.
|
8448903 |
1993 |
|
Optic Atrophy, Hereditary, Leber
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Homoplasmic and exclusive ND4 gene mutation in Japanese pedigrees with Leber's disease.
|
8449667 |
1993 |
|
Optic Atrophy, Hereditary, Leber
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Leber's hereditary optic neuropathy in Indonesia: two families with the mtDNA 11778G>A and 14484T>C mutations.
|
9452107 |
1998 |
|
Optic Atrophy, Hereditary, Leber
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutation at position 11778 in the nd4 gene of the human mitochondrial complex I is associated with Leber's hereditary optic neuropathy.
|
9685604 |
1998 |
|
Optic Atrophy, Hereditary, Leber
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We employed a microphotometric approach to examine whether a defect in the mitochondrial respiratory complex I expected in Leber hereditary optic neuropathy (LHON) as the consequence of a mtDNA (11778G>A) mutation in the ND4 gene coding for a subunit of the respiratory complex I can be detected at the single-cell level.
|
11117434 |
2000 |
|
Optic Atrophy, Hereditary, Leber
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Leber's hereditary optic neuropathy: clinical and molecular genetic results in a patient with a point mutation at np T11253C (isoleucine to threonine) in the ND4 gene and spontaneous recovery.
|
12271374 |
2002 |
|
Optic Atrophy, Hereditary, Leber
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Late-onset encephalopathy associated with a C11777A mutation of mitochondrial DNA.
|
12707444 |
2003 |
|
Optic Atrophy, Hereditary, Leber
|
0.700 |
Biomarker
|
disease |
CTD_human |
Leber hereditary optic neuropathy mtDNA mutations disrupt glutamate transport in cybrid cell lines.
|
15342361 |
2004 |
|
Optic Atrophy, Hereditary, Leber
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Four siblings with a syndrome consisting of encephalomyopathy with hearing impairment, optic nerve atrophy, and cardiac involvement had the 11778G>A mutation in MTND4, previously associated with Leber hereditary optic neuropathy.
|
16044424 |
2005 |
|
Optic Atrophy, Hereditary, Leber
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
A novel mtDNA C11777A mutation in Leigh syndrome.
|
16120329 |
2003 |
|
Optic Atrophy, Hereditary, Leber
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Of other variants, the homoplasmic G11696A mutation in the ND4 gene is of special interest as it was implicated to be associated with LHON in a large Dutch family and five Chinese pedigrees with extremely penetrance of visual loss.
|
17300996 |
2007 |
|
Optic Atrophy, Hereditary, Leber
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
G11778A in the subunit ND4 gene of NADH dehydrogenase complex is the most common primary mutation found in Leber's hereditary optic neuropathy (LHON) patients.
|
17320357 |
2007 |
|
Optic Atrophy, Hereditary, Leber
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
To create an animal model of Leber Hereditary Optic Neuropathy (LHON), we introduced the human ND4 gene harboring the G11778A mutation, responsible of 60% of LHON cases, to rat eyes by in vivo electroporation.
|
18771762 |
2008 |