|
3-Methylglutaconic aciduria type 3
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We have, therefore, characterized the skeletal phenotype in the Opa3<sup>L122P</sup> mouse model for Costeff syndrome, in which a missense mutation of the mitochondrial membrane protein, Opa3, impairs mitochondrial activity resulting in visual and metabolic dysfunction.
|
27106103 |
2016 |
|
3-Methylglutaconic aciduria type 3
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The neuropsychological profile of patients with 3-methylglutaconic aciduria type III, Costeff syndrome.
|
25657044 |
2015 |
|
3-Methylglutaconic aciduria type 3
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Clinical and molecular genetic findings in autosomal dominant OPA3-related optic neuropathy.
|
25159689 |
2015 |
|
3-Methylglutaconic aciduria type 3
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mutations in OPA3 should be evaluated in all cases presenting with the core features of typical Costeff syndrome.
|
26190011 |
2015 |
|
3-Methylglutaconic aciduria type 3
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The neuropsychological profile of patients with 3-methylglutaconic aciduria type III, Costeff syndrome.
|
25657044 |
2015 |
|
3-Methylglutaconic aciduria type 3
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Atypical presentation of Costeff syndrome-severe psychomotor involvement and electrical status epilepticus during slow wave sleep.
|
26190011 |
2015 |
|
3-Methylglutaconic aciduria type 3
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Is metabolic syndrome prevailing in Iraqi children?
|
24944951 |
2014 |
|
3-Methylglutaconic aciduria type 3
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Is metabolic syndrome prevailing in Iraqi children?
|
24944951 |
2014 |
|
3-Methylglutaconic aciduria type 3
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Costeff syndrome: clinical features and natural history.
|
25201222 |
2014 |
|
3-Methylglutaconic aciduria type 3
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mutations in OPA3 have been reported in patients with autosomal dominant optic atrophy plus cataract and Costeff syndrome.
|
24136862 |
2013 |
|
3-Methylglutaconic aciduria type 3
|
0.900 |
Biomarker
|
disease |
BEFREE |
The latter should be further classified and named by their defective protein or the historical name as follows: i) defective phospholipid remodelling (TAZ defect or Barth syndrome, SERAC1 defect or MEGDEL syndrome) and ii) mitochondrial membrane associated disorders (OPA3 defect or Costeff syndrome, DNAJC19 defect or DCMA syndrome, TMEM70 defect).
|
23296368 |
2013 |
|
3-Methylglutaconic aciduria type 3
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
A novel heterozygous OPA3 mutation located in the mitochondrial target sequence results in altered steady-state levels and fragmented mitochondrial network.
|
24136862 |
2013 |
|
3-Methylglutaconic aciduria type 3
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mutations in OPA3 have been reported in Costeff optic atrophy syndrome.
|
23700088 |
2013 |
|
3-Methylglutaconic aciduria type 3
|
0.900 |
Biomarker
|
disease |
MGD |
To address this, we have characterized the metabolic phenotype of a mouse model for Costeff syndrome, in which a point mutation in the mitochondrial membrane protein Opa3 impairs mitochondrial activity.
|
22869679 |
2012 |
|
3-Methylglutaconic aciduria type 3
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria.
|
20350831 |
2010 |
|
3-Methylglutaconic aciduria type 3
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria.
|
20350831 |
2010 |
|
3-Methylglutaconic aciduria type 3
|
0.900 |
Biomarker
|
disease |
MGD |
A missense mutation in the murine Opa3 gene models human Costeff syndrome.
|
18222992 |
2008 |
|
3-Methylglutaconic aciduria type 3
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Costeff optic atrophy syndrome: new clinical case and novel molecular findings.
|
18985435 |
2008 |
|
3-Methylglutaconic aciduria type 3
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
A missense mutation in the murine Opa3 gene models human Costeff syndrome.
|
18222992 |
2008 |
|
3-Methylglutaconic aciduria type 3
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Our study of the OPA3 gene in patients with 3MGA without Costeff syndrome suggests that mutations in OPA3 are not a common cause of 3MGA in the absence of signs of Costeff syndrome.
|
15902555 |
2005 |
|
3-Methylglutaconic aciduria type 3
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract.
|
15342707 |
2004 |
|
3-Methylglutaconic aciduria type 3
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Iraqi-Jewish patients with type III MGA are homozygous for a splice site founder mutation in OPA3 (IVS1-1G>C) which abolishes mRNA expression in fibroblasts.
|
12126933 |
2002 |
|
3-Methylglutaconic aciduria type 3
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews.
|
11668429 |
2001 |
|
3-Methylglutaconic aciduria type 3
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
To isolate the causative gene, OPA3, we sequenced four genes within the critical interval and identified, in the intronic sequence of a gene corresponding to cDNA clone FLJ22187, a point mutation that segregated with the type III MGA phenotype.
|
11668429 |
2001 |
|
3-Methylglutaconic aciduria type 3
|
0.900 |
Biomarker
|
disease |
CTD_human |
|
|
|