相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Dominant optic atrophy: Culprit mitochondria in the optic nerve
Guy Lenaers et al.
PROGRESS IN RETINAL AND EYE RESEARCH (2021)
Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy
Camille Piro-Megy et al.
JOURNAL OF CLINICAL INVESTIGATION (2020)
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder
Valentina Del Dotto et al.
JOURNAL OF CLINICAL INVESTIGATION (2020)
Phenotypic expansion of Bosch-Boonstra-Schaaf optic atrophy syndrome and further evidence for genotype-phenotype correlations
Megan E. Rech et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2020)
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy
Leonardo Caporali et al.
ANNALS OF NEUROLOGY (2020)
Metabolomics hallmarks OPA1 variants correlating with their in vitro phenotype and predicting clinical severity
Juan Manuel Chao de la Barca et al.
HUMAN MOLECULAR GENETICS (2020)
The mutational constraint spectrum quantified from variation in 141,456 humans
Konrad J. Karczewski et al.
NATURE (2020)
Genetic architecture of inherited retinal degeneration in Germany: A large cohort study from a single diagnostic center over a 9-year period
Nicole Weisschuh et al.
HUMAN MUTATION (2020)
Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy
Majida Charif et al.
NEUROLOGY-GENETICS (2020)
Haploinsufficiency due to a novel ACO2 deletion causes mitochondrial dysfunction in fibroblasts from a patient with dominant optic nerve atrophy
Marie Anne-Catherine Neumann et al.
SCIENTIFIC REPORTS (2020)
First submicroscopic inversion of the OPA1 gene identified in dominant optic atrophy - a case report
Nicole Weisschuh et al.
BMC MEDICAL GENETICS (2020)
Meta-analysis of genotype-phenotype analysis of OPAL mutations in autosomal dominant optic atrophy
Michelle Ham et al.
MITOCHONDRION (2019)
Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports
Katja Kloth et al.
BMC MEDICAL GENETICS (2019)
SSBP1 mutations in dominant optic atrophy with variable retinal degeneration
Neringa Jurkute et al.
ANNALS OF NEUROLOGY (2019)
Structural and evolutionary characteristics of dynamin-related GTPase OPA1
Dandan Li et al.
PEERJ (2019)
OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database
Bastien Le Roux et al.
ORPHANET JOURNAL OF RARE DISEASES (2019)
Autosomal dominant optic atrophy and cataract plus phenotype including axonal neuropathy
Alejandro Horga et al.
NEUROLOGY-GENETICS (2019)
Deciphering OPA1 mutations pathogenicity by combined analysis of human, mouse and yeast cell models
Valentina Del Dotto et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2018)
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies
Peter D. Stenson et al.
HUMAN GENETICS (2017)
Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations
Alessia Nasca et al.
ORPHANET JOURNAL OF RARE DISEASES (2017)
A novel ADOA-associated OPA1 mutation alters the mitochondrial function, membrane potential, ROS production and apoptosis
Juanjuan Zhang et al.
SCIENTIFIC REPORTS (2017)
Genetic and Clinical Analyses of DOA and LHON in 304 Chinese Patients with Suspected Childhood-Onset Hereditary Optic Neuropathy
Yadi Li et al.
PLOS ONE (2017)
Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo OPA3 mutation
Stephanie C. Bourne et al.
COLD SPRING HARBOR MOLECULAR CASE STUDIES (2017)
Novel NR2F1 variants likely disrupt DNA binding: molecular modeling in two cases, review of published cases, genotype-phenotype correlation, and phenotypic expansion of the Bosch-Boonstra-Schaaf optic atrophy syndrome
Charu Kaiwar et al.
COLD SPRING HARBOR MOLECULAR CASE STUDIES (2017)
Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite opposite effects on mitochondrial fusion and fission
Sylvie Gerber et al.
BRAIN (2017)
The Epidemiology of Leber Hereditary Optic Neuropathy in the North East of England (vol 72, pg 333, 2003)
P. Yu-Wai-Man et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2016)
The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations
Chun-An Chen et al.
GENETICS IN MEDICINE (2016)
WFS1 in Optic Neuropathies: Mutation Findings in Nonsyndromic Optic Atrophy and Assessment of Clinical Severity
Joanna Grenier et al.
OPHTHALMOLOGY (2016)
Antisense Oligonucleotide Mediated Splice Correction of a Deep Intronic Mutation in OPA1
Tobias Bonifert et al.
MOLECULAR THERAPY-NUCLEIC ACIDS (2016)
Genotype-phenotype heterogeneity of ganglion cell and inner plexiform layer deficit in autosomal-dominant optic atrophy
Cecilia Ronnback et al.
ACTA OPHTHALMOLOGICA (2015)
OPA1-related auditory neuropathy: site of lesion and outcome of cochlear implantation
Rosamaria Santarelli et al.
BRAIN (2015)
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Sue Richards et al.
GENETICS IN MEDICINE (2015)
'Behr syndrome' with OPA1 compound heterozygote mutations
Valerio Carelli et al.
BRAIN (2015)
Mutation update and uncommon phenotypes in a French cohort of 96 patients with WFS1-related disorders
A. Chaussenot et al.
CLINICAL GENETICS (2015)
NR2F1 Mutations Cause Optic Atrophy with Intellectual Disability
Danielle G. M. Bosch et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2014)
Early Macular Retinal Ganglion Cell Loss in Dominant Optic Atrophy: Genotype-Phenotype Correlation
Piero Barboni et al.
AMERICAN JOURNAL OF OPHTHALMOLOGY (2014)
Early-onset Behr syndrome due to compound heterozygous mutations in OPA1
Dominique Bonneau et al.
BRAIN (2014)
Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier
Tobias Bonifert et al.
BRAIN (2014)
MutationTaster2: mutation prediction for the deep-sequencing age
Jana Marie Schwarz et al.
NATURE METHODS (2014)
Charcot-Marie-Tooth Disease Type 2A From Typical to Rare Phenotypic and Genotypic Features
Francesco Bombelli et al.
JAMA NEUROLOGY (2014)
Guidelines for Reporting and Using Prediction Tools for Genetic Variation Analysis
Mauno Vihinen
HUMAN MUTATION (2013)
A novel heterozygous OPA3 mutation located in the mitochondrial target sequence results in altered steady-state levels and fragmented mitochondrial network
Tanja Grau et al.
JOURNAL OF MEDICAL GENETICS (2013)
The Development of Next-Generation Sequencing Assays for the Mitochondrial Genome and 108 Nuclear Genes Associated with Mitochondrial Disorders
Shale Dames et al.
JOURNAL OF MOLECULAR DIAGNOSTICS (2013)
Dominant optic atrophy in Denmark - report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90%
Gitte J. Almind et al.
BMC MEDICAL GENETICS (2012)
Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy
Stephan Klebe et al.
BRAIN (2012)
OPA3-Related Autosomal Dominant Optic Atrophy and Cataract with Ataxia and Areflexia
X. Ayrignac et al.
EUROPEAN NEUROLOGY (2012)
Dominant optic atrophy
Guy Lenaers et al.
ORPHANET JOURNAL OF RARE DISEASES (2012)
Identification of p.A684V Missense Mutation in the WFS1 Gene as a Frequent Cause of Autosomal Dominant Optic Atrophy and Hearing Impairment
Nanna D. Rendtorff et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2011)
Genomic deletions in OPA1 in Danish patients with autosomal dominant optic atrophy
Gitte J. Almind et al.
BMC MEDICAL GENETICS (2011)
OPA1 mutations impair mitochondrial function in both pure and complicated dominant optic atrophy
Patrick Yu-Wai-Man et al.
BRAIN (2011)
Spastic paraplegia in 'dominant optic atrophy plus' phenotype due to OPA1 mutation
Elena Pretegiani et al.
BRAIN (2011)
Early-onset severe neuromuscular phenotype associated with compound heterozygosity for OPA1 mutations
Christian P. Schaaf et al.
MOLECULAR GENETICS AND METABOLISM (2011)
Fast, scalable generation of high-quality protein multiple sequence alignments using Clustal Omega
Fabian Sievers et al.
MOLECULAR SYSTEMS BIOLOGY (2011)
Mitochondrial optic neuropathies - Disease mechanisms and therapeutic strategies
Patrick Yu-Wai-Man et al.
PROGRESS IN RETINAL AND EYE RESEARCH (2011)
Multi-system neurological disease is common in patients with OPA1 mutations
P. Yu-Wai-Man et al.
BRAIN (2010)
OPA1 disease alleles causing dominant optic atrophy have defects in cardiolipin-stimulated GTP hydrolysis and membrane tubulation
Tadato Ban et al.
HUMAN MOLECULAR GENETICS (2010)
Solving a 50 year mystery of a missing OPA1 mutation: more insights from the first family diagnosed with autosomal dominant optic atrophy
Nico Fuhrmann et al.
MOLECULAR NEURODEGENERATION (2010)
Molecular Screening of 980 Cases of Suspected Hereditary Optic Neuropathy with a Report on 77 Novel OPA1 Mutations
Marc Ferre et al.
HUMAN MUTATION (2009)
Genomic rearrangements in OPA1 are frequent in patients with autosomal dominant optic atrophy
N. Fuhrmann et al.
JOURNAL OF MEDICAL GENETICS (2009)
OPA1 mutations induce mitochondrial DNA instability and optic atrophy plus phenotypes
Patrizia Amati-Bonneau et al.
BRAIN (2008)
Comprehensive cDNA study and quantitative transcript analysis of mutant OPA1 transcripts containing premature termination codons
Simone Schimpf et al.
HUMAN MUTATION (2008)
The molecular mechanisms of OPA1-mediated optic atrophy in Drosophila model and prospects for antioxidant treatment
Will Yarosh et al.
PLOS GENETICS (2008)
OPA1 mutations associated with dominant optic atrophy impair oxidative phosphorylation and mitochondrial fusion
Claudia Zanna et al.
BRAIN (2008)
Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions:: a novel disorder of mtDNA maintenance
Gavin Hudson et al.
BRAIN (2008)
Opa1 deficiency in a mouse model of autosomal dominant optic atrophy impairs mitochondrial morphology, optic nerve structure and visual function
Vanessa J. Davies et al.
HUMAN MOLECULAR GENETICS (2007)
Autosomal dominant optic atrophy:: Penetrance and expressivity in patients with OPA1 mutations
Amn C. Cohn et al.
AMERICAN JOURNAL OF OPHTHALMOLOGY (2007)
A splice site mutation in the murine OpaI gene features pathology of autosomal dominant optic atrophy
Marcel V. Alavi et al.
BRAIN (2007)
Single base-pair substitutions in exon-intron junctions of human genes: Nature, distribution, and consequences for mRNA splicing
Michael Krawczak et al.
HUMAN MUTATION (2007)
Mitochondrial rhomboid PARL regulates cytochrome c release during apoptosis via OPA1-dependent cristae remodeling
Sara Cipolat et al.
CELL (2006)
Mitochondrial dynamics and disease, OPA1
Aurelien Olichon et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH (2006)
Activation of cryptic splice sites is a frequent splicing defect mechanism caused by mutations in exon and intron sequences of the OPA1 gene
S Schimpf et al.
HUMAN GENETICS (2006)
OPA1, associated with autosomal dominant optic atrophy, is widely expressed in the human brain
S Bette et al.
ACTA NEUROPATHOLOGICA (2005)
OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract -: art. no. e110
P Reynier et al.
JOURNAL OF MEDICAL GENETICS (2004)
OPA1 requires mitofusin 1 to promote mitochondrial fusion
S Cipolat et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2004)
Dominant optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia:: A syndrome caused by a missense mutation in OPA1
M Payne et al.
AMERICAN JOURNAL OF OPHTHALMOLOGY (2004)
Deficit of in vivo mitochondrial ATP production in OPA1-related dominant optic atrophy
R Lodi et al.
ANNALS OF NEUROLOGY (2004)
Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals
G Yeo et al.
JOURNAL OF COMPUTATIONAL BIOLOGY (2004)
The association of autosomal dominant optic atrophy and moderate deafness may be due to the R445H mutation in the OPA1 gene
P Amati-Bonneau et al.
AMERICAN JOURNAL OF OPHTHALMOLOGY (2003)
Loss of OPA1 perturbates the mitochondrial inner membrane structure and integrity, leading to cytochrome c release and apoptosis
A Olichon et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2003)
The human dynamin-related protein OPA1 is anchored to the mitochondrial inner membrane facing the inter-membrane space
A Olichon et al.
FEBS LETTERS (2002)
Mutation spectrum and splicing variants in the OPA1 gene
C Delettre et al.
HUMAN GENETICS (2001)
Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy
C Toomes et al.
HUMAN MOLECULAR GENETICS (2001)
OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance
UEA Pesch et al.
HUMAN MOLECULAR GENETICS (2001)
GeneSplicer: a new computational method for splice site prediction
M Pertea et al.
NUCLEIC ACIDS RESEARCH (2001)
Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy
C Delettre et al.
NATURE GENETICS (2000)
OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28
C Alexander et al.
NATURE GENETICS (2000)