A novel heterozygous OPA3 mutation located in the mitochondrial target sequence results in altered steady-state levels and fragmented mitochondrial network

Journal of Medical Genetics

Volumn 50, Issue 12, 2013, Pages 848-858

  Grau, Tanja ^a,b   Burbulla, Lena F ^c,d   Engl, Gertraud ^b   Delettre, Cécile ^e   Delprat, Benjamin ^e,f   Oexle, Konrad ^g   Leo Kottler, Beate ^a   Roscioli, Tony ^h   Krüger, Rejko ^c   Rapaport, Doron ^b   Wissinger, Bernd ^a   Schimpf Linzenbold, Simone ^a  

^a UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^b UNIVERSITY OF TÜBINGEN   (Germany)

^c UNIVERSITY OF TÜBINGEN   (Germany)

^d GERMAN CENTER FOR NEURODEGENERATIVE DISEASES DZNE   (Germany)

^e Montpellier University Medical Center   (France)

^f UNIV MONTPELLIER   (France)

^g TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^h UNIVERSITY OF NEW SOUTH WALES   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

OPA3 PROTEIN; PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL DOMINANT OPTIC ATROPHY; CONTROLLED STUDY; GENE; HETEROZYGOTE; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MITOCHONDRION; MORPHOLOGY; MUTANT; MUTATION; PATHOGENESIS; PHENOTYPE; PREVALENCE; PRIORITY JOURNAL; SPECTRUM; STEADY STATE;

MURINAE;

MITOCHONDRIA; OPA3; OPTIC ATROPHY;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; CELLS, CULTURED; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; FEMALE; FIBROBLASTS; HUMANS; MALE; MIDDLE AGED; MITOCHONDRIA; MUTATION; OPTIC ATROPHY, AUTOSOMAL DOMINANT; PEDIGREE; PROTEINS;

EID: 84890226708     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2013-101774     Document Type: Article

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