Huntington's disease (HD) is caused by a elongation of a glutamine stretch in the novel huntingtin protein. It is not clear how this genetic defect leads to the selective pathology of HD. Laser confocal immunofluorescence light microscopy has become an essential tool for evaluating the subcellular localization of single or multiple antigens by immunofluorescence. This approach is essential to understanding huntingtin and its mutant counterpart in HD cells and tissues, and in experimental models . However, HD Center investigators have limited access to existing imaging facilities, creating a bottle neck that is slowing progress on these critical experiments. We propose to establish a laser confocal imaging core facility dedicated to supporting the needs of HD Center investigators. We propose to establish a laser confocal imaging core facility dedicated to supporting the needs of HD Center investigators. The advances in technology of the new generation of confocal microscopes provide for simultaneous acquisition of multi-color images free from bleed through and with reduced fading. This Imaging Core facility will greatly enhance the efficiency and productivity with which HD Center investigators can obtain high quality cell biological data. This knowledge is critical to achieving the long-term goal of the HD Center, understanding mutant huntingtin, its partners and normal and abnormal cellular functions that ultimately cause HD pathology.

Agency
National Institute of Health (NIH)
Institute
National Institute of Neurological Disorders and Stroke (NINDS)
Type
Specialized Center (P50)
Project #
2P50NS016367-21
Application #
6333962
Study Section
National Institute of Neurological Disorders and Stroke Initial Review Group (NSD)
Project Start
1980-07-01
Project End
2005-06-30
Budget Start
Budget End
Support Year
21
Fiscal Year
2000
Total Cost
$80,916
Indirect Cost
Name
Massachusetts General Hospital
Department
Type
DUNS #
City
Boston
State
MA
Country
United States
Zip Code
02199
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Lee, Jong-Min; Kim, Kyung-Hee; Shin, Aram et al. (2015) Sequence-Level Analysis of the Major European Huntington Disease Haplotype. Am J Hum Genet 97:435-44
Ramos, Eliana Marisa; Gillis, Tammy; Mysore, Jayalakshmi S et al. (2015) Haplotype analysis of the 4p16.3 region in Portuguese families with Huntington's disease. Am J Med Genet B Neuropsychiatr Genet 168B:135-43
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Biagioli, Marta; Ferrari, Francesco; Mendenhall, Eric M et al. (2015) Htt CAG repeat expansion confers pleiotropic gains of mutant huntingtin function in chromatin regulation. Hum Mol Genet 24:2442-57

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