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
about
Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like conditionNeonatal presentation of ventricular tachycardia and a Reye-like syndrome episode associated with disturbed mitochondrial energy metabolism.Gene structure and chromosomal localization of mouse Opa1 : its exclusion from the Bst locusA neurodegenerative perspective on mitochondrial optic neuropathiesDominant optic atrophy.OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondriaA model of Costeff Syndrome reveals metabolic and protective functions of mitochondrial OPA3.Metabolic biology of 3-methylglutaconic acid-uria: a new perspective.The prevalence and natural history of dominant optic atrophy due to OPA1 mutations.Medical management of hereditary optic neuropathies.The 3-methylglutaconic acidurias: what's new?Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies.The optic nerve: a "mito-window" on mitochondrial neurodegenerationThe Expanding MEGDEL Phenotype: Optic Nerve Atrophy, Microcephaly, and Myoclonic Epilepsy in a Child with SERAC1 Mutations.CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduriaGenetic screening for OPA1 and OPA3 mutations in patients with suspected inherited optic neuropathiesCosteff optic atrophy syndrome: new clinical case and novel molecular findings.Optic disc morphology of patients with OPA1 autosomal dominant optic atrophyDisorders of the optic nerve in mitochondrial cytopathies: new ideas on pathogenesis and therapeutic targets.Molecular genetic basis of primary inherited optic neuropathies.Behr's Syndrome is Typically Associated with Disturbed Mitochondrial Translation and Mutations in the C12orf65 GeneGenetic and Clinical Analyses of DOA and LHON in 304 Chinese Patients with Suspected Childhood-Onset Hereditary Optic Neuropathy.Detection of the nonsense mutation of OPA3 gene in Holstein Friesian cattle with dilated cardiomyopathy in Japan.Analysis of nuclear and mitochondrial genes in patients with pseudoexfoliation glaucoma.Mutation survey of the optic atrophy 1 gene in 193 Chinese families with suspected hereditary optic neuropathyInherited mitochondrial optic neuropathies.Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo OPA3 mutation.Disrupted mitochondrial function in the Opa3L122P mouse model for Costeff Syndrome impairs skeletal integrity.Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria.Inherited metabolic disorders involving the eye: a clinico-biochemical perspective.Two novel compound heterozygous mutations in OPA3 in two siblings with OPA3-related 3-methylglutaconic aciduria.Mitochondrial dynamics in heart disease.Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature.Mitochondrial fusion proteins and human diseases.Disturbed mitochondrial dynamics and neurodegenerative disorders.Mitochondrial Membrane Dynamics and Inherited Optic Neuropathies.Antisense Oligonucleotide Mediated Splice Correction of a Deep Intronic Mutation in OPA1.Metabolic Stress and Disorders Related to Alterations in Mitochondrial Fission or Fusion.'Behr syndrome' with OPA1 compound heterozygote mutations.Reply: Early-onset Behr syndrome due to compound heterozygous mutations in OPA1.
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P2860
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
description
2001 nî lūn-bûn
@nan
2001 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年学术文章
@wuu
2001年学术文章
@zh-cn
2001年学术文章
@zh-hans
2001年学术文章
@zh-my
2001年学术文章
@zh-sg
2001年學術文章
@yue
name
Type III 3-methylglutaconic ac ...... founder mutation in Iraqi Jews
@ast
Type III 3-methylglutaconic ac ...... founder mutation in Iraqi Jews
@en
Type III 3-methylglutaconic ac ...... founder mutation in Iraqi Jews
@en-gb
Type III 3-methylglutaconic ac ...... founder mutation in Iraqi Jews
@nl
type
label
Type III 3-methylglutaconic ac ...... founder mutation in Iraqi Jews
@ast
Type III 3-methylglutaconic ac ...... founder mutation in Iraqi Jews
@en
Type III 3-methylglutaconic ac ...... founder mutation in Iraqi Jews
@en-gb
Type III 3-methylglutaconic ac ...... founder mutation in Iraqi Jews
@nl
prefLabel
Type III 3-methylglutaconic ac ...... founder mutation in Iraqi Jews
@ast
Type III 3-methylglutaconic ac ...... founder mutation in Iraqi Jews
@en
Type III 3-methylglutaconic ac ...... founder mutation in Iraqi Jews
@en-gb
Type III 3-methylglutaconic ac ...... founder mutation in Iraqi Jews
@nl
P2093
P2860
P3181
P356
P1476
Type III 3-methylglutaconic ac ...... founder mutation in Iraqi Jews
@en
P2093
P2860
P304
P3181
P356
10.1086/324651
P407
P577
2001-12-01T00:00:00Z