Ontology highlight
ABSTRACT:
SUBMITTER: Dermaut B
PROVIDER: S-EPMC379144 | biostudies-literature | 2002 Jun
REPOSITORIES: biostudies-literature
Dermaut Bart B Theuns Jessie J Sleegers Kristel K Hasegawa Hiroshi H Van den Broeck Marleen M Vennekens Krist'l K Corsmit Ellen E St George-Hyslop Peter P Cruts Marc M van Duijn Cornelia M CM Van Broeckhoven Christine C
American journal of human genetics 20020424 6
Nicastrin regulates gamma-secretase cleavage of the amyloid precursor protein by forming complexes with presenilins, in which most mutations causing familial early-onset Alzheimer disease (EOAD) have been found. The gene encoding nicastrin (NCSTN) maps to 1q23, a region that has been linked and associated with late-onset Alzheimer disease (LOAD) in various genome screens. In 78 familial EOAD cases, we found 14 NCSTN single-nucleotide polymorphisms (SNPs): 10 intronic SNPs, 3 silent mutations, an ...[more]