Abstract

Genetic deficiency of lysosomal acid alpha glucosidase or acid maltase results in glycogen storage disease type II (GSDII) or acid maltase deficiency. Currently there is no treatment or cure for GSDII. The goal of the investigator is to evaluate enzyme replacement therapy to correct the genetic defect in the various forms of the disease. One of the problems is obtaining enough enzyme for longterm treatment of patients.
The aim of this protocol is to see if plants can produce sufficient quantities of a functional enzyme. The Core Laboratory was utilized for DNA Isolation, DNA sequencing (manual), oligonucleotide synthesis, and Recombinant DNA techniques.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Center for Research Resources (NCRR)
Type
General Clinical Research Centers Program (M01)
Project #
5M01RR000096-39
Application #
6412510
Study Section
National Center for Research Resources Initial Review Group (RIRG)
Project Start
1975-10-01
Project End
2003-11-30
Budget Start
Budget End
Support Year
39
Fiscal Year
2000
Total Cost
Indirect Cost

  Institution

Name
New York University
Department
Type
DUNS #
City
New York
State
NY
Country
United States
Zip Code
10016

  Publications

Jun, Gyungah R; Chung, Jaeyoon; Mez, Jesse et al. (2017) Transethnic genome-wide scan identifies novel Alzheimer's disease loci. Alzheimers Dement 13:727-738
Homann, O R; Misura, K; Lamas, E et al. (2016) Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness. Mol Psychiatry 21:1690-1695
Ridge, Perry G; Hoyt, Kaitlyn B; Boehme, Kevin et al. (2016) Assessment of the genetic variance of late-onset Alzheimer's disease. Neurobiol Aging 41:200.e13-200.e20
Hohman, Timothy J; Bush, William S; Jiang, Lan et al. (2016) Discovery of gene-gene interactions across multiple independent data sets of late onset Alzheimer disease from the Alzheimer Disease Genetics Consortium. Neurobiol Aging 38:141-150
Jun, G; Ibrahim-Verbaas, C A; Vronskaya, M et al. (2016) A novel Alzheimer disease locus located near the gene encoding tau protein. Mol Psychiatry 21:108-17
Ebbert, Mark T W; Boehme, Kevin L; Wadsworth, Mark E et al. (2016) Interaction between variants in CLU and MS4A4E modulates Alzheimer's disease risk. Alzheimers Dement 12:121-129
Hohman, Timothy J; Cooke-Bailey, Jessica N; Reitz, Christiane et al. (2016) Global and local ancestry in African-Americans: Implications for Alzheimer's disease risk. Alzheimers Dement 12:233-43
Li, Yi; Tsui, Wai; Rusinek, Henry et al. (2015) Cortical laminar binding of PET amyloid and tau tracers in Alzheimer disease. J Nucl Med 56:270-3
Ghani, Mahdi; Reitz, Christiane; Cheng, Rong et al. (2015) Association of Long Runs of Homozygosity With Alzheimer Disease Among African American Individuals. JAMA Neurol 72:1313-23
Beecham, Gary W; Dickson, Dennis W; Scott, William K et al. (2015) PARK10 is a major locus for sporadic neuropathologically confirmed Parkinson disease. Neurology 84:972-80

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