OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract
about
A neurodegenerative perspective on mitochondrial optic neuropathiesRecessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic NeuropathiesA recurrent deletion mutation in OPA1 causes autosomal dominant optic atrophy in a Chinese familyLoss of function of Ywhah in mice induces deafness and cochlear outer hair cells' degeneration.Dominant 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.The prevalence and natural history of dominant optic atrophy due to OPA1 mutations.Genomic deletions in OPA1 in Danish patients with autosomal dominant optic atrophyA novel ADOA-associated OPA1 mutation alters the mitochondrial function, membrane potential, ROS production and apoptosis.Solving a 50 year mystery of a missing OPA1 mutation: more insights from the first family diagnosed with autosomal dominant optic atrophy.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 neuro-ophthalmology of mitochondrial diseaseDominant optic atrophy in Denmark - report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90%.Genetic screening for OPA1 and OPA3 mutations in patients with suspected inherited optic neuropathiesCosteff optic atrophy syndrome: new clinical case and novel molecular findings.The mitochondrial proteome and human disease.Disorders of the optic nerve in mitochondrial cytopathies: new ideas on pathogenesis and therapeutic targets.Genetic and Clinical Analyses of DOA and LHON in 304 Chinese Patients with Suspected Childhood-Onset Hereditary Optic Neuropathy.Characterization of two novel intronic OPA1 mutations resulting in aberrant pre-mRNA splicingIdentification of two novel OPA1 mutations in Chinese families with autosomal dominant optic atrophy.Inherited mitochondrial optic neuropathies.Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene.Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo OPA3 mutation.NR2F1 mutations cause optic atrophy with intellectual disability.Two novel compound heterozygous mutations in OPA3 in two siblings with OPA3-related 3-methylglutaconic aciduria.Genetic and phenotypic variability of optic neuropathies.Mitochondrial fusion proteins and human diseases.Disturbed mitochondrial dynamics and neurodegenerative disorders.Mitochondrial Membrane Dynamics and Inherited Optic Neuropathies.Mitochondrial oxygen metabolism in primary human lens epithelial cells: Association with age, diabetes and glaucoma.Characterization of Ca2+ signalling in postnatal mouse retinal ganglion cells: involvement of OPA1 in Ca2+ clearance.A novel mutation of AFG3L2 might cause dominant optic atrophy in patients with mild intellectual disability.High frequency of OPA1 mutations causing high ADOA prevalence in south-eastern Sicily, Italy.Non-syndromic isolated dominant optic atrophy caused by the p.R468C mutation in the AFG3 like matrix AAA peptidase subunit 2 gene.Mutations in DNM1L, as in OPA1, result indominant optic atrophy despite opposite effectson mitochondrial fusion and fission.Siblings with optic neuropathy and RTN4IP1 mutation.
P2860
Q28072026-114B5D77-CB24-402A-92D0-C42428333C6EQ28115704-A7FEB239-1567-4B96-A9A6-23F019B6CE33Q30368414-5663D62E-A532-40EA-B58E-F10E988D63BAQ30382075-2468E7E5-FDAA-46D5-9CA2-FA2C577635E7Q30459784-3988F33A-5503-4C44-8F31-5BE76ED95382Q30494546-81760C68-3D40-4D7A-8331-B74DC4C34812Q30496256-C9BA16FD-53DD-4ADE-AA3B-8F33C498C754Q33693684-36CE11A9-471B-4A9D-ACA5-09563C203C39Q33860540-58D6EB7E-E7AF-4D6E-86B8-C0651D58C477Q33916058-1D9DD1E7-4B4F-4310-9703-0F09AE6D7452Q33945277-82FFFF83-0AFC-4ACA-A0FC-43F054356068Q33980183-36554504-1BD0-4A70-B51F-C87091DDBBF9Q34140909-85739199-AE94-4507-9C94-A709586E20EAQ34152110-E85E14B1-B115-4EC2-AEB7-408337514994Q34298350-4796D652-B02B-4E2A-AFCC-2CA20B1230BAQ34338783-FE967B56-B92F-40CD-95FA-9C17CFB2070AQ34362839-56456DF2-FB82-42D6-A604-45BFC37E21B0Q34605409-343A5D6C-5620-487A-B1B2-6E739C754811Q34873031-C525C2A6-3736-4698-B25B-5CB083A1D04FQ35427460-0F1F816F-2724-47AF-82A1-364E58D76968Q35928805-5040976B-67CC-4804-AB59-5AB729F0CC49Q36247821-A792E517-9151-41C2-AB99-8160C50D3358Q36293138-81E3E274-03AC-4826-9F69-5E566BEF4D11Q37029258-F35EEF12-6113-472E-9EBA-72C109CC312CQ37098009-A165EB9C-1FC1-4000-A9AA-2D523B909032Q37112108-431D6D9C-4F51-436E-A276-69F664BFA3C3Q37518618-6EA7A1A5-4361-4539-B673-980752693FE7Q37592273-679EC75C-1A47-4A8B-9B58-6E8F97E90697Q37704828-B8103E9D-E2F5-4397-865D-F1CA6276B3BEQ38094807-05D7B305-9448-4CCC-A9C7-E660E1F1A79BQ38115530-5E8D6401-5240-4935-9AE6-D95B8DE25F33Q38285228-ECF7D998-FBCC-40CB-83FA-9FA86D414CF5Q39399568-2FC0E5CE-380E-4191-BCDE-5AD07E8FA5C2Q41242669-2C98AD3F-9B9A-46B5-A074-8E60094B9C50Q43070109-B78C0361-4FF8-4427-9220-E3FCE489CAF2Q43214675-B99F6F2B-D7AF-470F-A39C-75D290C194C1Q43473191-E57838DE-92C1-4DF5-9B30-0D6F83122A2FQ47171459-40ED1195-FBD9-4B31-B714-10AA052A84F9Q47713821-203A128F-3825-4F7D-AA05-C901239D6A48Q47793202-1E058E6D-198E-438A-BE04-C2EAF2751A79
P2860
OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract
description
2004 nî lūn-bûn
@nan
2004 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
name
OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract
@ast
OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract
@en
OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract
@en-gb
OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract
@nl
type
label
OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract
@ast
OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract
@en
OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract
@en-gb
OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract
@nl
prefLabel
OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract
@ast
OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract
@en
OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract
@en-gb
OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract
@nl
P2093
P50
P3181
P356
P1476
OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract
@en
P2093
Amati-Bonneau P
Bonnemains C
Malecaze F
Malinge MC
Malthièry Y
P3181
P356
10.1136/JMG.2003.016576
P407
P577
2004-09-01T00:00:00Z