| Assay Method Information | |
| | Counter screen SAR assay for PMM2 inhibitors via a fluorescence intensity assay |
| Description: | Data Source: Sanford-Burnham Center for Chemical Genomics (SBCCG) Source Affiliation: Sanford-Burnham Medical Research Institute (SBMRI, San Diego, CA) Network: NIH Molecular Probe Production Centers Network (MLPCN) Grant Number: R03 MH082386-01 Assay Provider: Dr. Hudson H. Freeze, Sanford-Burnham Medical Research Institute, San Diego, CA Congenital Disorders of Glycosylation (CDGs) are rare genetic disorders in the synthesis of N-linked glycan chains. Mutations in PMM2, encoding phosphomannomutase 2 (PMM2, Man-6-P-> Man-1-P) cause the most common form, CDG-Ia. Patients have a host of problems including hypotonia, variable psychomotor retardation, seizures, peripheral neuropathy, cardiomyopathy, and protein losing enteropathy. There is no therapy for this disorder. A current approach to ameliorate the physiological conditions associated with CDG-Ia is to provide high influx of mannose for patience. We previously developed a HTS assay through the MLSCN to identify inhibitors of phos |
| Affinity data for this assay | |
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