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
Danuta Z Loesch, David E Godler, Andrew Evans, Quang M Bui, Freya Gehling, Katya E Kotschet, Nicholas Trost, Elsdon Storey, Paige Stimpson, Glynda Kinsella, David Francis, David R Thorburn, Alison Venn, Howard R Slater, Malcolm Horne
Genetics in Medicine | NATURE PUBLISHING GROUP | Published : 2011
Awarded by National Institutes of Child Health and Human Development
Awarded by Australian National Health and Medical Research Council (NHMRC)
This study was supported by the National Institutes of Child Health and Human Development Grant HD 36071, Australian National Health and Medical Research Council (NHMRC) Project Grant No. 330400 (to Dr. D. Z. Loesch), and the Principal Research Fellowship (Grant No. 436906) from the NHMRC (to Dr. D. R. Thorburn). The authors thank Dr. D. Amor from the Victorian Clinical Genetic Services for providing blood sample from one premutation carrier included in Figure 2, and Louise Hills and Con Ngo from the VCGS Cytogenetics Laboratory, Murdoch Childrens' Research Institute, for acquisition of patients' CGG expansion size data. They also thank the clinical patients and their families who participated in this study.