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Literature DB >> 28082723

Presenilin-1 mutations and Alzheimer's disease.

Raymond J Kelleher^1,2, Jie Shen^3,4.

Abstract

Entities: Chemical

Mesh：

Substances：

Year: 2017 PMID： 28082723 PMCID： PMC5278466 DOI： 10.1073/pnas.1619574114

Source DB: PubMed Journal: Proc Natl Acad Sci U S A ISSN： 0027-8424 Impact factor: 11.205

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20 in total

1. Increased amyloid-beta42(43) in brains of mice expressing mutant presenilin 1.

Authors: K Duff; C Eckman; C Zehr; X Yu; C M Prada; J Perez-tur; M Hutton; L Buee; Y Harigaya; D Yager; D Morgan; M N Gordon; L Holcomb; L Refolo; B Zenk; J Hardy; S Younkin
Journal: Nature Date: 1996-10-24 Impact factor: 49.962

Review 2. The presenilin hypothesis of Alzheimer's disease: evidence for a loss-of-function pathogenic mechanism.

Authors: Jie Shen; Raymond J Kelleher
Journal: Proc Natl Acad Sci U S A Date: 2006-12-29 Impact factor: 11.205

Review 3. Symptom onset in autosomal dominant Alzheimer disease: a systematic review and meta-analysis.

Authors: Davis C Ryman; Natalia Acosta-Baena; Paul S Aisen; Thomas Bird; Adrian Danek; Nick C Fox; Alison Goate; Peter Frommelt; Bernardino Ghetti; Jessica B S Langbaum; Francisco Lopera; Ralph Martins; Colin L Masters; Richard P Mayeux; Eric McDade; Sonia Moreno; Eric M Reiman; John M Ringman; Steve Salloway; Peter R Schofield; Reisa Sperling; Pierre N Tariot; Chengjie Xiong; John C Morris; Randall J Bateman
Journal: Neurology Date: 2014-06-13 Impact factor: 9.910

4. A presenilin-1 mutation identified in familial Alzheimer disease with cotton wool plaques causes a nearly complete loss of gamma-secretase activity.

Authors: Elizabeth A Heilig; Weiming Xia; Jie Shen; Raymond J Kelleher
Journal: J Biol Chem Date: 2010-05-11 Impact factor: 5.157

5. Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase.

Authors: Linfeng Sun; Rui Zhou; Guanghui Yang; Yigong Shi
Journal: Proc Natl Acad Sci U S A Date: 2016-12-05 Impact factor: 11.205

Review 6. The amyloid hypothesis of Alzheimer's disease: progress and problems on the road to therapeutics.

Authors: John Hardy; Dennis J Selkoe
Journal: Science Date: 2002-07-19 Impact factor: 47.728

7. Apolipoprotein Eepsilon4 modifies Alzheimer's disease onset in an E280A PS1 kindred.

Authors: Pau Pastor; Catherine M Roe; Andrés Villegas; Gabriel Bedoya; Sumi Chakraverty; Gloria García; Victoria Tirado; Joanne Norton; Silvia Ríos; Maribel Martínez; Kenneth S Kosik; Francisco Lopera; Alison M Goate
Journal: Ann Neurol Date: 2003-08 Impact factor: 10.422

8. Loss of Aβ43 Production Caused by Presenilin-1 Mutations in the Knockin Mouse Brain.

Authors: Dan Xia; Raymond J Kelleher; Jie Shen
Journal: Neuron Date: 2016-04-20 Impact factor: 17.173

Review 9. The amyloid hypothesis of Alzheimer's disease at 25 years.

Authors: Dennis J Selkoe; John Hardy
Journal: EMBO Mol Med Date: 2016-06-01 Impact factor: 12.137

10. APOE*E2 allele delays age of onset in PSEN1 E280A Alzheimer's disease.

Authors: J I Vélez; F Lopera; D Sepulveda-Falla; H R Patel; A S Johar; A Chuah; C Tobón; D Rivera; A Villegas; Y Cai; K Peng; R Arkell; F X Castellanos; S J Andrews; M F Silva Lara; P K Creagh; S Easteal; J de Leon; M L Wong; J Licinio; C A Mastronardi; M Arcos-Burgos
Journal: Mol Psychiatry Date: 2015-12-01 Impact factor: 15.992

57 in total

Review 1. Unraveling the complexity of γ-secretase.

Authors: Michael S Wolfe
Journal: Semin Cell Dev Biol Date: 2020-01-21 Impact factor: 7.727

2. The presenilin loop region is essential for glycogen synthase kinase 3 β (GSK3β) mediated functions on motor proteins during axonal transport.

Authors: Rupkatha Banerjee; Zoe Rudloff; Crystal Naylor; Michael C Yu; Shermali Gunawardena
Journal: Hum Mol Genet Date: 2018-09-01 Impact factor: 6.150

Review 3. Mechanistic insights into the pathogenesis of neurodegenerative diseases: towards the development of effective therapy.

Authors: Fauzia Nazam; Sibhghatulla Shaikh; Nazia Nazam; Abdulaziz Saad Alshahrani; Gulam Mustafa Hasan; Md Imtaiyaz Hassan
Journal: Mol Cell Biochem Date: 2021-03-09 Impact factor: 3.396

4. Structure and Function of the γ-Secretase Complex.

Authors: Michael S Wolfe
Journal: Biochemistry Date: 2019-06-25 Impact factor: 3.162

5. Cholinergic Differentiation of Human Neuroblastoma SH-SY5Y Cell Line and Its Potential Use as an In vitro Model for Alzheimer's Disease Studies.

Authors: Liana M de Medeiros; Marco A De Bastiani; Eduardo P Rico; Patrícia Schonhofen; Bianca Pfaffenseller; Bianca Wollenhaupt-Aguiar; Lucas Grun; Florência Barbé-Tuana; Eduardo R Zimmer; Mauro A A Castro; Richard B Parsons; Fábio Klamt
Journal: Mol Neurobiol Date: 2019-04-29 Impact factor: 5.590

Review 6. Exploring the Role of Ubiquitin-Proteasome System in Parkinson's Disease.

Authors: Tapan Behl; Sachin Kumar; Ziyad M Althafar; Aayush Sehgal; Sukhbir Singh; Neelam Sharma; Vishnu Nayak Badavath; Shivam Yadav; Saurabh Bhatia; Ahmed Al-Harrasi; Yosif Almoshari; Mohannad A Almikhlafi; Simona Bungau
Journal: Mol Neurobiol Date: 2022-05-03 Impact factor: 5.590