Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion

Human Molecular Genetics

Volumn 17, Issue 23, 2008, Pages 3822-3835

  Hakonen, Anna H ^a   Goffart, Steffi ^b   Marjavaara, Sanna ^a   Paetau, Anders ^a   Cooper, Helen ^b   Mattila, Kimmo ^c   Lampinen, Milla ^a   Sajantila, Antti ^a   Lönnqvist, Tuula ^d   Spelbrink, Johannes N ^b   Suomalainen, Anu ^a,e  

^a UNIVERSITY OF HELSINKI   (Finland)

^b TAMPERE UNIVERSITY HOSPITAL   (Finland)

^c IT Center for Science   (Finland)

^d HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^e HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

DNA DIRECTED DNA POLYMERASE GAMMA; HELICASE; MITOCHONDRIAL DNA; NERVE PROTEIN; NEURONAL COMPLEX 1 PROTEIN; TWINKLE PROTEIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; ATAXIA; CELL CULTURE; CONTROLLED STUDY; DISEASE ASSOCIATION; ENZYME ACTIVITY; FEMALE; GENE DELETION; GENETIC ASSOCIATION; HUMAN; HUMAN TISSUE; IN VITRO STUDY; INFANTILE ONSET SPINOCEREBELLAR ATAXIA; MALE; MITOCHONDRIAL RECESSIVE ATAXIA SYNDROME; MUTANT; NERVE CELL; NUCLEIC ACID STRUCTURE; PHENOTYPE; POINT MUTATION; POLYMERIZATION; PRIORITY JOURNAL; RISK FACTOR;

AMINO ACID MOTIFS; BRAIN; DNA HELICASES; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT COMPLEX I; FEMALE; HUMANS; MALE; MITOCHONDRIA; MITOCHONDRIAL DISEASES; MUTATION; NEURONS; PROTEIN BINDING; PROTEIN TRANSPORT; SPINOCEREBELLAR ATAXIAS; YOUNG ADULT;

EID: 56049111329     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddn280     Document Type: Article

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