Literature DB >> 26243569

A genetic cause of Alzheimer disease: mechanistic insights from Down syndrome.

Frances K Wiseman1, Tamara Al-Janabi2, John Hardy3, Annette Karmiloff-Smith4, Dean Nizetic5, Victor L J Tybulewicz6, Elizabeth M C Fisher1, André Strydom2.   

Abstract

Down syndrome, which arises in individuals carrying an extra copy of chromosome 21, is associated with a greatly increased risk of early-onset Alzheimer disease. It is thought that this risk is conferred by the presence of three copies of the gene encoding amyloid precursor protein (APP)--an Alzheimer disease risk factor--although the possession of extra copies of other chromosome 21 genes may also play a part. Further study of the mechanisms underlying the development of Alzheimer disease in people with Down syndrome could provide insights into the mechanisms that cause dementia in the general population.

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Year:  2015        PMID: 26243569      PMCID: PMC4678594          DOI: 10.1038/nrn3983

Source DB:  PubMed          Journal:  Nat Rev Neurosci        ISSN: 1471-003X            Impact factor:   34.870


  205 in total

1.  Reduction of synaptojanin 1 accelerates Aβ clearance and attenuates cognitive deterioration in an Alzheimer mouse model.

Authors:  Li Zhu; Minghao Zhong; Jiaying Zhao; Hannah Rhee; Ina Caesar; Elysse M Knight; Laura Volpicelli-Daley; Victor Bustos; William Netzer; Lijuan Liu; Louise Lucast; Michelle E Ehrlich; Nikolaos K Robakis; Samuel E Gandy; Dongming Cai
Journal:  J Biol Chem       Date:  2013-09-19       Impact factor: 5.157

2.  Cholesterol level, statin use and Alzheimer's disease in adults with Down syndrome.

Authors:  Warren B Zigman; Nicole Schupf; Edmund C Jenkins; Tiina K Urv; Benjamin Tycko; Wayne Silverman
Journal:  Neurosci Lett       Date:  2007-02-11       Impact factor: 3.046

3.  Role of common and rare APP DNA sequence variants in Alzheimer disease.

Authors:  B V Hooli; G Mohapatra; M Mattheisen; A R Parrado; J T Roehr; Y Shen; J F Gusella; R Moir; A J Saunders; C Lange; R E Tanzi; L Bertram
Journal:  Neurology       Date:  2012-04-04       Impact factor: 9.910

4.  Deficits in human trisomy 21 iPSCs and neurons.

Authors:  Jason P Weick; Dustie L Held; George F Bonadurer; Matthew E Doers; Yan Liu; Chelsie Maguire; Aaron Clark; Joshua A Knackert; Katharine Molinarolo; Michael Musser; Lin Yao; Yingnan Yin; Jianfeng Lu; Xiaoqing Zhang; Su-Chun Zhang; Anita Bhattacharyya
Journal:  Proc Natl Acad Sci U S A       Date:  2013-05-28       Impact factor: 11.205

5.  Mutation screening of patients with Alzheimer disease identifies APP locus duplication in a Swedish patient.

Authors:  Håkan Thonberg; Marie Fallström; Jenny Björkström; Jacqueline Schoumans; Inger Nennesmo; Caroline Graff
Journal:  BMC Res Notes       Date:  2011-11-01

6.  Accelerated epigenetic aging in Down syndrome.

Authors:  Steve Horvath; Paolo Garagnani; Maria Giulia Bacalini; Chiara Pirazzini; Stefano Salvioli; Davide Gentilini; Anna Maria Di Blasio; Cristina Giuliani; Spencer Tung; Harry V Vinters; Claudio Franceschi
Journal:  Aging Cell       Date:  2015-02-09       Impact factor: 9.304

7.  Defective mitochondrial function in vivo in skeletal muscle in adults with Down's syndrome: a 31P-MRS study.

Authors:  Alexander C Phillips; Alison Sleigh; Catherine J McAllister; Soren Brage; T Adrian Carpenter; Graham J Kemp; Anthony J Holland
Journal:  PLoS One       Date:  2013-12-31       Impact factor: 3.240

8.  Overexpression of Down syndrome cell adhesion molecule impairs precise synaptic targeting.

Authors:  Vedrana Cvetkovska; Alexa D Hibbert; Farida Emran; Brian E Chen
Journal:  Nat Neurosci       Date:  2013-05-12       Impact factor: 24.884

9.  Modelling and rescuing neurodevelopmental defect of Down syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21.

Authors:  Youssef Hibaoui; Iwona Grad; Audrey Letourneau; M Reza Sailani; Sophie Dahoun; Federico A Santoni; Stefania Gimelli; Michel Guipponi; Marie Francoise Pelte; Frédérique Béna; Stylianos E Antonarakis; Anis Feki
Journal:  EMBO Mol Med       Date:  2013-12-27       Impact factor: 12.137

Review 10.  Dysfunction of Wnt signaling and synaptic disassembly in neurodegenerative diseases.

Authors:  Silvia A Purro; Soledad Galli; Patricia C Salinas
Journal:  J Mol Cell Biol       Date:  2014-01-20       Impact factor: 6.216

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  184 in total

1.  Cognitive decline and brain amyloid-β accumulation across 3 years in adults with Down syndrome.

Authors:  Sigan L Hartley; Benjamin L Handen; Darlynne Devenny; Iulia Mihaila; Regina Hardison; Patrick J Lao; William E Klunk; Peter Bulova; Sterling C Johnson; Bradley T Christian
Journal:  Neurobiol Aging       Date:  2017-06-02       Impact factor: 4.673

Review 2.  Exosome release and cargo in Down syndrome.

Authors:  Eric D Hamlett; Angela LaRosa; Elliott J Mufson; Juan Fortea; Aurélie Ledreux; Ann-Charlotte Granholm
Journal:  Dev Neurobiol       Date:  2019-08-06       Impact factor: 3.964

Review 3.  Down syndrome and the complexity of genome dosage imbalance.

Authors:  Stylianos E Antonarakis
Journal:  Nat Rev Genet       Date:  2016-12-28       Impact factor: 53.242

Review 4.  mTOR in Down syndrome: Role in Aß and tau neuropathology and transition to Alzheimer disease-like dementia.

Authors:  Fabio Di Domenico; Antonella Tramutola; Cesira Foppoli; Elizabeth Head; Marzia Perluigi; D Allan Butterfield
Journal:  Free Radic Biol Med       Date:  2017-08-12       Impact factor: 7.376

5.  Neuronal exosomes reveal Alzheimer's disease biomarkers in Down syndrome.

Authors:  Eric D Hamlett; Edward J Goetzl; Aurélie Ledreux; Vitaly Vasilevko; Heather A Boger; Angela LaRosa; David Clark; Steven L Carroll; María Carmona-Iragui; Juan Fortea; Elliott J Mufson; Marwan Sabbagh; Abdul H Mohammed; Dean Hartley; Eric Doran; Ira T Lott; Ann-Charlotte Granholm
Journal:  Alzheimers Dement       Date:  2016-10-15       Impact factor: 21.566

Review 6.  Protein Degradation and the Pathologic Basis of Disease.

Authors:  John Hanna; Angel Guerra-Moreno; Jessie Ang; Yagmur Micoogullari
Journal:  Am J Pathol       Date:  2018-10-10       Impact factor: 4.307

7.  Anesthetic Management of a Down Syndrome Patient with Subocclusive Syndrome.

Authors:  George Gabriel Moldoveanu; Emilia Severin; Andreea Paun
Journal:  Maedica (Buchar)       Date:  2018-06

Review 8.  Impact of Antidepressant Use on the Trajectory of Alzheimer's Disease: Evidence, Mechanisms, and Therapeutic Implications.

Authors:  Rita Khoury; George T Grossberg
Journal:  CNS Drugs       Date:  2019-01       Impact factor: 5.749

Review 9.  Polyubiquitinylation Profile in Down Syndrome Brain Before and After the Development of Alzheimer Neuropathology.

Authors:  Antonella Tramutola; Fabio Di Domenico; Eugenio Barone; Andrea Arena; Alessandra Giorgi; Laura di Francesco; Maria Eugenia Schininà; Raffaella Coccia; Elizabeth Head; D Allan Butterfield; Marzia Perluigi
Journal:  Antioxid Redox Signal       Date:  2016-10-26       Impact factor: 8.401

10.  JAK1 Inhibition Blocks Lethal Immune Hypersensitivity in a Mouse Model of Down Syndrome.

Authors:  Kathryn D Tuttle; Katherine A Waugh; Paula Araya; Ross Minter; David J Orlicky; Michael Ludwig; Zdenek Andrysik; Matthew A Burchill; Beth A J Tamburini; Colin Sempeck; Keith Smith; Ross Granrath; Dayna Tracy; Jessica Baxter; Joaquin M Espinosa; Kelly D Sullivan
Journal:  Cell Rep       Date:  2020-11-17       Impact factor: 9.423

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