Literature DB >> 21097925

Genetics. Gamma-secretase and human disease.

Raymond J Kelleher1, Jie Shen.   

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Year:  2010        PMID: 21097925      PMCID: PMC4556372          DOI: 10.1126/science.1198668

Source DB:  PubMed          Journal:  Science        ISSN: 0036-8075            Impact factor:   47.728


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  12 in total

1.  Abeta deposition is associated with neuropil changes, but not with overt neuronal loss in the human amyloid precursor protein V717F (PDAPP) transgenic mouse.

Authors:  M C Irizarry; F Soriano; M McNamara; K J Page; D Schenk; D Games; B T Hyman
Journal:  J Neurosci       Date:  1997-09-15       Impact factor: 6.167

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

3.  Proteolytic release and nuclear translocation of Notch-1 are induced by presenilin-1 and impaired by pathogenic presenilin-1 mutations.

Authors:  W Song; P Nadeau; M Yuan; X Yang; J Shen; B A Yankner
Journal:  Proc Natl Acad Sci U S A       Date:  1999-06-08       Impact factor: 11.205

Review 4.  Hidradenitis suppurativa.

Authors:  F William Danby; Lynette J Margesson
Journal:  Dermatol Clin       Date:  2010-10       Impact factor: 3.478

5.  Loss of presenilin 1 is associated with enhanced beta-catenin signaling and skin tumorigenesis.

Authors:  X Xia; S Qian; S Soriano; Y Wu; A M Fletcher; X J Wang; E H Koo; X Wu; H Zheng
Journal:  Proc Natl Acad Sci U S A       Date:  2001-08-21       Impact factor: 11.205

6.  Notch1 functions as a tumor suppressor in mouse skin.

Authors:  Michael Nicolas; Anita Wolfer; Kenneth Raj; J Alain Kummer; Pleasantine Mill; Mascha van Noort; Chi-chung Hui; Hans Clevers; G Paolo Dotto; Freddy Radtke
Journal:  Nat Genet       Date:  2003-02-18       Impact factor: 38.330

7.  Epidermal growth factor receptor and notch pathways participate in the tumor suppressor function of gamma-secretase.

Authors:  Tong Li; Hongjin Wen; Cory Brayton; Pritam Das; Lisa A Smithson; Abdul Fauq; Xing Fan; Barbara J Crain; Donald L Price; Todd E Golde; Charles G Eberhart; Philip C Wong
Journal:  J Biol Chem       Date:  2007-09-07       Impact factor: 5.157

Review 8.  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

9.  Loss of presenilin function causes impairments of memory and synaptic plasticity followed by age-dependent neurodegeneration.

Authors:  Carlos A Saura; Se-Young Choi; Vassilios Beglopoulos; Seema Malkani; Dawei Zhang; B S Shankaranarayana Rao; Sumantra Chattarji; Raymond J Kelleher; Eric R Kandel; Karen Duff; Alfredo Kirkwood; Jie Shen
Journal:  Neuron       Date:  2004-04-08       Impact factor: 17.173

10.  Presenilins are essential for regulating neurotransmitter release.

Authors:  Chen Zhang; Bei Wu; Vassilios Beglopoulos; Mary Wines-Samuelson; Dawei Zhang; Ioannis Dragatsis; Thomas C Südhof; Jie Shen
Journal:  Nature       Date:  2009-07-30       Impact factor: 49.962

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  21 in total

Review 1.  The vexing complexity of the amyloidogenic pathway.

Authors:  Manuel A Castro; Arina Hadziselimovic; Charles R Sanders
Journal:  Protein Sci       Date:  2019-04-11       Impact factor: 6.725

Review 2.  Inhibiting BACE1 to reverse synaptic dysfunctions in Alzheimer's disease.

Authors:  Riqiang Yan; Qingyuan Fan; John Zhou; Robert Vassar
Journal:  Neurosci Biobehav Rev       Date:  2016-04-01       Impact factor: 8.989

3.  Oxidative stress and lipid peroxidation are upstream of amyloid pathology.

Authors:  Muriel Arimon; Shuko Takeda; Kathryn L Post; Sarah Svirsky; Bradley T Hyman; Oksana Berezovska
Journal:  Neurobiol Dis       Date:  2015-06-21       Impact factor: 5.996

4.  Targets for AD treatment: conflicting messages from γ-secretase inhibitors.

Authors:  Kumar Sambamurti; Nigel H Greig; Tadanobu Utsuki; Eliza L Barnwell; Ekta Sharma; Cheryl Mazell; Narayan R Bhat; Mark S Kindy; Debomoy K Lahiri; Miguel A Pappolla
Journal:  J Neurochem       Date:  2011-03-15       Impact factor: 5.372

5.  Loss of Presenilin 2 Function Is Associated with Defective LPS-Mediated Innate Immune Responsiveness.

Authors:  Vishal Agrawal; Neha Sawhney; Emer Hickey; Justin V McCarthy
Journal:  Mol Neurobiol       Date:  2015-06-18       Impact factor: 5.590

6.  Familial frontotemporal dementia-associated presenilin-1 c.548G>T mutation causes decreased mRNA expression and reduced presenilin function in knock-in mice.

Authors:  Hirotaka Watanabe; Dan Xia; Takahisa Kanekiyo; Raymond J Kelleher; Jie Shen
Journal:  J Neurosci       Date:  2012-04-11       Impact factor: 6.167

Review 7.  Understanding the roles of mutations in the amyloid precursor protein in Alzheimer disease.

Authors:  S Hunter; C Brayne
Journal:  Mol Psychiatry       Date:  2017-11-07       Impact factor: 15.992

8.  Nonmelanoma skin cancer is associated with reduced Alzheimer disease risk.

Authors:  Robert S White; Richard B Lipton; Charles B Hall; Joshua R Steinerman
Journal:  Neurology       Date:  2013-05-15       Impact factor: 9.910

9.  Estimation of genomic instability and mutation induction by graphene oxide nanoparticles in mice liver and brain tissues.

Authors:  Hanan R H Mohamed; Mary Welson; Ahmed Essa Yaseen; Akmal A El-Ghor
Journal:  Environ Sci Pollut Res Int       Date:  2019-11-30       Impact factor: 4.223

10.  Trans-dominant negative effects of pathogenic PSEN1 mutations on γ-secretase activity and Aβ production.

Authors:  Elizabeth A Heilig; Usha Gutti; Tara Tai; Jie Shen; Raymond J Kelleher
Journal:  J Neurosci       Date:  2013-07-10       Impact factor: 6.167

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