Two Novel Mutations in the First Transmembrane Domain of Presenilin1 Cause Young-Onset Alzheimer’s Disease

Neurological manifestations of autosomal dominant familial Alzheimer’s disease: a comparison of the published literature with the Dominantly Inherited Alzheimer Network observational study (DIAN-OBS)

(2016) Mengxuan Tang et al.   LANCET NEUROLOGY

Clinical phenotype and genetic associations in autosomal dominant familial Alzheimer’s disease: a case series

(2016) Natalie S Ryan et al.   LANCET NEUROLOGY

Existing Pittsburgh Compound-B positron emission tomography thresholds are too high: statistical and pathological evaluation

(2015) Sylvia Villeneuve et al.   BRAIN

Suppressor Mutations for Presenilin 1 Familial Alzheimer Disease Mutants Modulate γ-Secretase Activities

(2015) Eugene Futai et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Molecular mechanism of intramembrane proteolysis by γ-secretase

(2014) Taisuke Tomita   JOURNAL OF BIOCHEMISTRY

Binding of longer Aβ to transmembrane domain 1 of presenilin 1 impacts on Aβ42 generation

(2014) Yu Ohki et al.   Molecular Neurodegeneration

Allosteric regulation of  -secretase activity by a phenylimidazole-type  -secretase modulator

(2014) K. Takeo et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Signature Amyloid β Profiles Are Produced by Different γ-Secretase Complexes

(2013) Hermien Acx et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The mechanism of γ-Secretase dysfunction in familial Alzheimer disease

(2012) Lucía Chávez-Gutiérrez et al.   EMBO JOURNAL

Comparison of clinical characteristics between familial and non-familial early onset Alzheimer’s disease

(2012) Aditi Joshi et al.   JOURNAL OF NEUROLOGY

National Institute on Aging–Alzheimer’s Association guidelines for the neuropathologic assessment of Alzheimer’s disease: a practical approach

(2011) Thomas J. Montine et al.   ACTA NEUROPATHOLOGICA

Correlating familial Alzheimer’s disease gene mutations with clinical phenotype

(2010) Natalie S Ryan et al.   Biomarkers in Medicine

Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP

(2008) Rita Joao Guerreiro et al.   NEUROBIOLOGY OF AGING

Functional gamma-secretase inhibitors reduce beta-amyloid peptide levels in brain

(2003) H. F. Dovey et al.   JOURNAL OF NEUROCHEMISTRY