Two novel presenilin-1 mutations (I249L and P433S) in early onset Chinese Alzheimer's pedigrees and their functional characterization-Reference-Cited by-同舟云学术

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Two novel presenilin-1 mutations (I249L and P433S) in early onset Chinese Alzheimer's pedigrees and their functional characterization

Published:2019-08 Issue:1 Volume:516 Page:264-269
ISSN:0006-291X
Container-title:Biochemical and Biophysical Research Communications
language:en
Short-container-title:Biochemical and Biophysical Research Communications

Author:

Shen Luxi,Qin Wei,Wu Liyong,Zhou Aihong,Tang Yi,Wang Qi,Jia Longfei,Jia Jianping^ORCID

Funder

Key Project of the National Natural Science Foundation of China

National Key Scientific Instrument and Equipment Development

Mission Program of Beijing Municipal Administration of Hospitals

Beijing Brain Initiative from Beijing Municipal Science & Technology Commission

Innovation Base Training and Development Special Program

Alzheimer’s Disease and Related Disorders

Beijing Municipal Commission of Health and Family Planning

Publisher

Elsevier BV

Subject

Cell Biology,Molecular Biology,Biochemistry,Biophysics

Reference27 articles.

1. Clinical phenotype and genetic associations in autosomal dominant familial Alzheimer's disease: a case series;Ryan;Lancet Neurol.,2016

2. N. Dominantly Inherited Alzheimer, Symptom onset in autosomal dominant Alzheimer disease: a systematic review and meta-analysis;Ryman;Neurology,2014

3. Two transmembrane aspartates in presenilin-1 required for presenilin endoproteolysis and gamma-secretase activity;Wolfe;Nature,1999

4. Conserved "PAL" sequence in presenilins is essential for gamma-secretase activity, but not required for formation or stabilization of gamma-secretase complexes;Wang;Neurobiol. Dis.,2004

5. Presenilin proteins undergo heterogeneous endoproteolysis between Thr291 and Ala 299 and occur as stable N- and C-terminal fragments in normal and Alzheimer brain tissue;Podlisny;Neurobiol. Dis.,1997

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1. Coptisine reverses Alzheimer’s disease by targeting cholinergic and amyloidogenic pathways;Medical Hypotheses;2024-08

2. The presenilin 1 mutation P436S causes familial Alzheimer's disease with elevated Aβ43 and atypical clinical manifestations;Alzheimer's & Dementia;2024-06-02

3. Presenilin: A Multi-Functional Molecule in the Pathogenesis of Alzheimer’s Disease and Other Neurodegenerative Diseases;International Journal of Molecular Sciences;2024-02-01

4. The presenilin 1 mutation P436S causes familial Alzheimer’s disease with elevated Aβ43 and atypical clinical manifestations;2023-12-06

5. An Alternative View of Familial Alzheimer’s Disease Genetics;Journal of Alzheimer's Disease;2023-10-24

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