Evidence for the toxicity of bidirectional transcripts and mitochondrial dysfunction in blood associated with small CGG expansions in the FMR1 gene in patients with parkinsonism

Genetics in Medicine

Volumn 13, Issue 5, 2011, Pages 392-399

  Loesch, Danuta Z ^a,b   Godler, David E ^b   Evans, Andrew ^c   Bui, Quang M ^d   Gehling, Freya ^b   Kotschet, Katya E ^e,f   Trost, Nicholas ^f   Storey, Elsdon ^g   Stimpson, Paige ^a,g   Kinsella, Glynda ^a   Francis, David ^b   Thorburn, David R ^b,d   Venn, Alison ^h   Slater, Howard R ^b,d   Horne, Malcolm ^d,e  

^a LA TROBE UNIVERSITY   (Australia)

^b ROYAL CHILDREN'S HOSPITAL   (Australia)

^c ROYAL MELBOURNE HOSPITAL   (Australia)

^d UNIVERSITY OF MELBOURNE   (Australia)

^e Centre for Clinical Neurosciences and Neurological Research   (Australia)

^f ST VINCENT S HOSPITAL   (Australia)

^g MONASH UNIVERSITY   (Australia)

^h UNIVERSITY OF TASMANIA   (Australia)

Author keywords

FMR1 ASFMR1 FMR4; gray zone; mitochondrial dysfunction; parkinsonism; premutation

Indexed keywords

CYTOCHROME C1; FRAGILE X MENTAL RETARDATION PROTEIN; MESSENGER RNA; NICOTINAMIDE ADENINE DINUCLEOTIDE; OXIDOREDUCTASE;

ADULT; ARTICLE; CLINICAL ARTICLE; CLINICAL ASSESSMENT; COGNITION; CONTROLLED STUDY; DISEASE DURATION; DISORDERS OF MITOCHONDRIAL FUNCTIONS; GENETIC SCREENING; HETEROZYGOTE; HUMAN; LEUKOCYTE; MALE; MINI MENTAL STATE EXAMINATION; NEUROPSYCHOLOGICAL TEST; PARKINSON DISEASE; PARKINSONISM; PATHOGENESIS; SEX DIFFERENCE; TRINUCLEOTIDE REPEAT; UNIFIED PARKINSON DISEASE RATING SCALE;

AGED; AGED, 80 AND OVER; ALLELES; DNA, MITOCHONDRIAL; FRAGILE X MENTAL RETARDATION PROTEIN; GENETIC ASSOCIATION STUDIES; HUMANS; MALE; MIDDLE AGED; MOTOR ACTIVITY; PARKINSONIAN DISORDERS; RNA, MESSENGER; TRANSCRIPTION, GENETIC; TRINUCLEOTIDE REPEAT EXPANSION;

PARKINSONIA;

EID: 79955919529     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/GIM.0b013e3182064362     Document Type: Article

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