title: Genetics. Gamma-secretase and human disease.
authors.affiliation: Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA. kelleher@helix.mgh.harvard.edu
authors.forename: Raymond J
authors.initials: RJ
authors.lastname: Kelleher
authors.forename: Jie
authors.initials: J
authors.lastname: Shen
mesh_terms: D000409:Alanine / Q000031:analogs & derivatives / Q000494:pharmacology; D000544:Alzheimer Disease / Q000201:enzymology / Q000235:genetics*; D053829:Amyloid Precursor Protein Secretases / Q000037:antagonists & inhibitors / Q000235:genetics*; D000818:Animals; D001381:Azepines / Q000494:pharmacology; D017497:Hidradenitis Suppurativa / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D020125:Mutation, Missense; D053764:Presenilin-1 / Q000235:genetics*
chemical_list: D001381:Azepines; C484278:N2-((2S)-2-(3,5-difluorophenyl)-2-hydroxyethanoyl)-N1-((7S)-5-methyl-6-oxo-6,7-dihydro-5H-dibenzo(b,d)azepin-7-yl)-L-alaninamide; C508853:PSEN1 protein, human; D053764:Presenilin-1; D053829:Amyloid Precursor Protein Secretases; D000409:Alanine