J Michael Andresen
Affiliation: Massachusetts Institute of Technology
- Replication of twelve association studies for Huntington's disease residual age of onset in large Venezuelan kindredsJ M Andresen
Massachusetts Institute of Technology, 77 Massachusetts Avenue, Cambridge, MA 02139, USA
J Med Genet 44:44-50. 2007..Many genetic polymorphisms have previously shown evidence of association with age of onset of Huntington's disease in several different populations...
- The relationship between CAG repeat length and age of onset differs for Huntington's disease patients with juvenile onset or adult onsetJ Michael Andresen
Massachusetts Institute of Technology, 77 Massachusetts Ave, Cambridge, MA 02139, USA
Ann Hum Genet 71:295-301. 2007..27, P= 2 x 10(-16)]. In both populations, the influence of each CAG repeat on age of onset appears to be stronger in the adult-onset range of CAG repeats than in the juvenile-onset range...
- The translocation t(8;16)(p11;p13) of acute myeloid leukaemia fuses a putative acetyltransferase to the CREB-binding proteinJ Borrow
Center for Cancer Research, Massachusetts Institute of Technology, Cambridge 02139, USA
Nat Genet 14:33-41. 1996..We suggest that MOZ may represent a chromatin-associated acetyltransferase, and raise the possibility that a dominant MOZ-CBP fusion protein could mediate leukaemogenesis via aberrant chromatin acetylation...
- Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onsetNancy S Wexler
Columbia University, 1051 Riverside Drive, New York, NY 10032, USA
Proc Natl Acad Sci U S A 101:3498-503. 2004..37), shared environment (0.22), and nonshared environment (0.41) variances, confirming that approximately 40% of the variance remaining in onset age is attributable to genes other than the HD gene and 60% is environmental...
- RORalpha-mediated Purkinje cell development determines disease severity in adult SCA1 miceHeliane G Serra
Institute of Human Genetics, University of Minnesota, Minneapolis, MN 55455, USA
Cell 127:697-708. 2006..These studies indicate RORalpha and Tip60 have a role in SCA1 and suggest a mechanism by which compromising cerebellar development contributes to severity of neurodegeneration in an adult...
- Genomewide linkage scan reveals novel loci modifying age of onset of Huntington's disease in the Venezuelan HD kindredsJavier Gayan
Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom
Genet Epidemiol 32:445-53. 2008..14 at 5q32). All these regions harbor candidate genes that are potential HD modifier genes. Finding these modifier genes can reveal accessible and promising new therapeutic pathways and targets to ameliorate and cure HD...
- Hsp70/Hsc70 regulates the effect phosphorylation has on stabilizing ataxin-1Nathan D Jorgensen
Graduate Program in Neuroscience, University of Minnesota, Minneapolis, Minnesota 55455, USA
J Neurochem 102:2040-8. 2007..However, Akt targeted to the cytoplasm failed to destabilize ATXN1 if Hsp70/Hsc70 was present. Thus, Hsp70/Hsc70 can regulate ATXN1 levels in concert with phosphorylation of ATXN1 at S776...