PSEN1 p.Thr116Ile Variant in Two Korean Families with Young Onset Alzheimer’s Disease

Presynaptic endocytic factors in autophagy and neurodegeneration

(2018) Domenico Azarnia Tehran et al.   CURRENT OPINION IN NEUROBIOLOGY

The French Series of Autosomal Dominant Early Onset Alzheimer's Disease Cases: Mutation Spectrum and Cerebrospinal Fluid Biomarkers

(2018) David Wallon et al.   JOURNAL OF ALZHEIMERS DISEASE

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

(2016) Natalie S Ryan et al.   LANCET NEUROLOGY

A genetic screen of the mutations in the Korean patients with early-onset Alzheimer’s disease

(2016) Seong Soo An et al.   Clinical Interventions in Aging

Cooperative Roles of Hydrophilic Loop 1 and the C-Terminus of Presenilin 1 in the Substrate-Gating Mechanism of  -Secretase

(2015) S. Takagi-Niidome et al.   JOURNAL OF NEUROSCIENCE

Presenilin-1 Knockin Mice Reveal Loss-of-Function Mechanism for Familial Alzheimer’s Disease

(2015) Dan Xia et al.   NEURON

Mutational analysis in early-onset familial Alzheimer's disease in Mainland China

(2014) Bin Jiao et al.   NEUROBIOLOGY OF AGING

Clinical Genetics of Alzheimer’s Disease

(2014) Zhangyu Zou et al.   Biomed Research International

The genetics of Alzheimer's disease

(2014) Eva Bagyinszky et al.   Clinical Interventions in Aging

The mechanism of γ-Secretase dysfunction in familial Alzheimer disease

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

Template-based protein structure modeling using the RaptorX web server

(2012) Morten Källberg et al.   Nature Protocols

Genetic testing in familial and young-onset Alzheimer's disease: mutation spectrum in a Serbian cohort

(2012) Valerija Dobricic et al.   NEUROBIOLOGY OF AGING

Predicting the Functional Effect of Amino Acid Substitutions and Indels

(2012) Yongwook Choi et al.   PLoS One

Structure, mechanism and inhibition of γ-secretase and presenilin-like proteases

(2010) Michael S. Wolfe   BIOLOGICAL CHEMISTRY

Mutation Analysis of the Presenilin 1 N-terminal Domain Reveals a Broad Spectrum of γ-Secretase Activity toward Amyloid Precursor Protein and Other Substrates

(2010) Ping Gong et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Nueva mutación en el gen PSEN1 (E120G) asociada a enfermedad de Alzheimer de inicio precoz

(2010) A. Lladó et al.   NEUROLOGIA

A Recessive Mutation in the APP Gene with Dominant-Negative Effect on Amyloidogenesis

(2009) G. Di Fede et al.   SCIENCE