ATP13A2 mutations impair mitochondrial function in fibroblasts from patients with Kufor-Rakeb syndrome

Neurobiology of Aging

Volumn 33, Issue 8, 2012, Pages 1843.e1-1843.e7

  Grünewald, Anne ^a   Arns, Björn ^a   Seibler, Philip ^a   Rakovic, Aleksandar ^a   Münchau, Alexander ^b   Ramirez, Alfredo ^a   Sue, Carolyn M ^c   Klein, Christine ^a  

^a UNIVERSITY OF LÜBECK   (Germany)

^b UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^c ROYAL NORTH SHORE HOSPITAL   (Australia)

Author keywords

ATP13A2; Kufor Rakeb syndrome; Mitochondrial dynamics; Mitochondrial dysfunction; Mitophagy; Parkinsonism

Indexed keywords

ADENOSINE TRIPHOSPHATASE; MITOCHONDRIAL DNA; ATP13A2 PROTEIN, HUMAN; PROTON TRANSPORTING ADENOSINE TRIPHOSPHATASE;

ADULT; ARTICLE; ATP13A2 GENE; CLINICAL ARTICLE; CONTROLLED STUDY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DNA DAMAGE; EMBRYO; FIBROBLAST; GENE MUTATION; GENE OVEREXPRESSION; HUMAN; HUMAN CELL; HUMAN TISSUE; KUFOR RAKEB SYNDROME; MITOCHONDRIAL RESPIRATION; OXYGEN CONSUMPTION; PARKINSONISM; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; SKIN BIOPSY; WILD TYPE; FEMALE; GENETICS; MALE; METABOLISM; MITOCHONDRION; MUTATION;

ADULT; FEMALE; FIBROBLASTS; HUMANS; MALE; MITOCHONDRIA; MITOCHONDRIAL DISEASES; MUTATION; PARKINSONIAN DISORDERS; PROTON-TRANSLOCATING ATPASES;

EID: 84861883543     PISSN: 01974580     EISSN: 15581497     Source Type: Journal    
DOI: 10.1016/j.neurobiolaging.2011.12.035     Document Type: Article

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