Huntingtin cleavage product A forms in neurons and is reduced by gamma-secretase inhibitors

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes

Marcy E. MacDonald · Cell · 1993 · 8.3K citations · Full text

Genome Instability, Novel Gene, Genetic Disorder +10

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. The Huntington's Disease Collaborative Research Group.

Manish A. Shah, Nicole A. Datson, Lakshmi Srinidhi et al. · Cell · 1993 · 3.1K citations

Genetic Diseases, Genome Instability, Novel Gene +10

Aggregation of Huntingtin in Neuronal Intranuclear Inclusions and Dystrophic Neurites in Brain

Marian DiFiglia, Ellen Sapp, Kathryn Chase et al. · Science · 1997 · 2.9K citations

Formation of Neuronal Intranuclear Inclusions Underlies the Neurological Dysfunction in Mice Transgenic for the HD Mutation

Stephen W. Davies, Mark Turmaine, Barbara A. Cozens et al. · Cell · 1997 · 2.2K citations · Full text

Two transmembrane aspartates in presenilin-1 required for presenilin endoproteolysis and γ-secretase activity

Michael S. Wolfe, Weiming Xia, Beth L. Ostaszewski et al. · Nature · 1999 · 1.9K citations

Protein Secretion, Presenilin Endoproteolysis, Biochemistry +13