Submitted by: Antoni Andreu M. Martija 2017-10-12 00:00:00 Last Updated by: Jeverly Ann S. Principe 2017-10-12 15:56:30 Export to PDF

IMP-XDP: Investigations on the Molecular Pathogenesis of X-Linked Dystonia Parkinsonism

PHRR171012-001714

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IMP-XDP: Investigations on the Molecular Pathogenesis of X-Linked Dystonia Parkinsonism

This project aims to fill in some gaps in our understanding of the molecular basis of X-linked dystonia parkinsonism (XDP) using middle-onset neuronal loss and downregulation of N-TAF1 as the guiding clues. In particular, the project will: (a) study the function of N-TAF1 through overexpression and RNA interference/knockdown strategies (b) examine its role in apoptosis and cellular senescence and how it interfaces with p53 via its reported intrinsic kinase activity (c) study the function of the antisense lncRNAs found in the disease locus, namely DYT3 and INGX, and how a mutation in the former could lead to dysregulation of the latter leading to cellular senescence and/or apoptosis and consequently neuronal loss,  and (d) map the regulatory regions in introns within the multiple transcript system which are believed to be disrupted in XDP patients.

Start Date Duration in Months Target Completion Date Actual Completion Date
2017-09-18 36 2020-09-18 0000-00-00

Ongoing

Institution Classification Region LTO #
University of the Philippines - Diliman, National Institute of Molecular Biology and Biotechnology Public Higher Education Institution - State Universities and Colleges NCR N/A
Institution Classification Region LTO #
National Institutes of Health - University of the Philippines - Manila, Institute of Human Genetics Government NCR N/A
Institution Amount Region
Philippine Council for Health Research and Development, Department of Science and Technology N/A NCR
Name Expertise Affiliation
Reynaldo L. Garcia, PhD Molecular Biology University of the Philippines - Diliman, National Institute of Molecular Biology and Biotechnology
Eva Maria Cutiongco-de la Paz, MD Human Genetics National Institutes of Health - University of the Philippines - Manila

X-linked dystonia parkinsonism

The study aims to identify and elucidate the molecular mechanisms contributing to the pathogenesis of X-linked dystonia parkinsonism.

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Completed

Non-clinical Studies

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None

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18 Sep 2017

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