Literature DB >> 24991952

Alzheimer's disease genetics: from the bench to the clinic.

Celeste M Karch1, Carlos Cruchaga1, Alison M Goate2.   

Abstract

Alzheimer's disease (AD) is a clinically heterogeneous neurodegenerative disease with a strong genetic component. Several genes have been associated with AD risk for nearly 20 years. However, it was not until the recent technological advances that allow for the analysis of millions of polymorphisms in thousands of subjects that we have been able to advance our understanding of the genetic complexity of AD susceptibility. Genome-wide association studies and whole-exome and whole-genome sequencing have revealed more than 20 loci associated with AD risk. These studies have provided insights into the molecular pathways that are altered in AD pathogenesis, which have, in turn, provided insight into novel therapeutic targets.
Copyright © 2014 Elsevier Inc. All rights reserved.

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Year:  2014        PMID: 24991952      PMCID: PMC4120741          DOI: 10.1016/j.neuron.2014.05.041

Source DB:  PubMed          Journal:  Neuron        ISSN: 0896-6273            Impact factor:   17.173


  174 in total

1.  Genome-wide association reveals genetic effects on human Aβ42 and τ protein levels in cerebrospinal fluids: a case control study.

Authors:  Mi-Ryung Han; Gerard D Schellenberg; Li-San Wang
Journal:  BMC Neurol       Date:  2010-10-08       Impact factor: 2.474

2.  Binding of human apolipoprotein E to synthetic amyloid beta peptide: isoform-specific effects and implications for late-onset Alzheimer disease.

Authors:  W J Strittmatter; K H Weisgraber; D Y Huang; L M Dong; G S Salvesen; M Pericak-Vance; D Schmechel; A M Saunders; D Goldgaber; A D Roses
Journal:  Proc Natl Acad Sci U S A       Date:  1993-09-01       Impact factor: 11.205

Review 3.  Apolipoprotein e sets the stage: response to injury triggers neuropathology.

Authors:  Robert W Mahley; Yadong Huang
Journal:  Neuron       Date:  2012-12-06       Impact factor: 17.173

Review 4.  Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).

Authors:  Kathleen S Hruska; Mary E LaMarca; C Ronald Scott; Ellen Sidransky
Journal:  Hum Mutat       Date:  2008-05       Impact factor: 4.878

5.  Alzheimer-associated presenilins 1 and 2: neuronal expression in brain and localization to intracellular membranes in mammalian cells.

Authors:  D M Kovacs; H J Fausett; K J Page; T W Kim; R D Moir; D E Merriam; R D Hollister; O G Hallmark; R Mancini; K M Felsenstein; B T Hyman; R E Tanzi; W Wasco
Journal:  Nat Med       Date:  1996-02       Impact factor: 53.440

6.  Clinical, genetic, and pathologic characteristics of patients with frontotemporal dementia and progranulin mutations.

Authors:  Vivianna M Van Deerlin; Elisabeth McCarty Wood; Peachie Moore; Wuxing Yuan; Mark S Forman; Christopher M Clark; Manuela Neumann; Linda K Kwong; John Q Trojanowski; Virginia M-Y Lee; Murray Grossman
Journal:  Arch Neurol       Date:  2007-08

7.  A coding variant in CR1 interacts with APOE-ε4 to influence cognitive decline.

Authors:  Brendan T Keenan; Joshua M Shulman; Lori B Chibnik; Towfique Raj; Dong Tran; Mert R Sabuncu; April N Allen; Jason J Corneveaux; John A Hardy; Matthew J Huentelman; Cynthia A Lemere; Amanda J Myers; Anne Nicholson-Weller; Eric M Reiman; Denis A Evans; David A Bennett; Philip L De Jager
Journal:  Hum Mol Genet       Date:  2012-02-17       Impact factor: 6.150

8.  Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease.

Authors:  Adam C Naj; Gyungah Jun; Gary W Beecham; Li-San Wang; Badri Narayan Vardarajan; Jacqueline Buros; Paul J Gallins; Joseph D Buxbaum; Gail P Jarvik; Paul K Crane; Eric B Larson; Thomas D Bird; Bradley F Boeve; Neill R Graff-Radford; Philip L De Jager; Denis Evans; Julie A Schneider; Minerva M Carrasquillo; Nilufer Ertekin-Taner; Steven G Younkin; Carlos Cruchaga; John S K Kauwe; Petra Nowotny; Patricia Kramer; John Hardy; Matthew J Huentelman; Amanda J Myers; Michael M Barmada; F Yesim Demirci; Clinton T Baldwin; Robert C Green; Ekaterina Rogaeva; Peter St George-Hyslop; Steven E Arnold; Robert Barber; Thomas Beach; Eileen H Bigio; James D Bowen; Adam Boxer; James R Burke; Nigel J Cairns; Chris S Carlson; Regina M Carney; Steven L Carroll; Helena C Chui; David G Clark; Jason Corneveaux; Carl W Cotman; Jeffrey L Cummings; Charles DeCarli; Steven T DeKosky; Ramon Diaz-Arrastia; Malcolm Dick; Dennis W Dickson; William G Ellis; Kelley M Faber; Kenneth B Fallon; Martin R Farlow; Steven Ferris; Matthew P Frosch; Douglas R Galasko; Mary Ganguli; Marla Gearing; Daniel H Geschwind; Bernardino Ghetti; John R Gilbert; Sid Gilman; Bruno Giordani; Jonathan D Glass; John H Growdon; Ronald L Hamilton; Lindy E Harrell; Elizabeth Head; Lawrence S Honig; Christine M Hulette; Bradley T Hyman; Gregory A Jicha; Lee-Way Jin; Nancy Johnson; Jason Karlawish; Anna Karydas; Jeffrey A Kaye; Ronald Kim; Edward H Koo; Neil W Kowall; James J Lah; Allan I Levey; Andrew P Lieberman; Oscar L Lopez; Wendy J Mack; Daniel C Marson; Frank Martiniuk; Deborah C Mash; Eliezer Masliah; Wayne C McCormick; Susan M McCurry; Andrew N McDavid; Ann C McKee; Marsel Mesulam; Bruce L Miller; Carol A Miller; Joshua W Miller; Joseph E Parisi; Daniel P Perl; Elaine Peskind; Ronald C Petersen; Wayne W Poon; Joseph F Quinn; Ruchita A Rajbhandary; Murray Raskind; Barry Reisberg; John M Ringman; Erik D Roberson; Roger N Rosenberg; Mary Sano; Lon S Schneider; William Seeley; Michael L Shelanski; Michael A Slifer; Charles D Smith; Joshua A Sonnen; Salvatore Spina; Robert A Stern; Rudolph E Tanzi; John Q Trojanowski; Juan C Troncoso; Vivianna M Van Deerlin; Harry V Vinters; Jean Paul Vonsattel; Sandra Weintraub; Kathleen A Welsh-Bohmer; Jennifer Williamson; Randall L Woltjer; Laura B Cantwell; Beth A Dombroski; Duane Beekly; Kathryn L Lunetta; Eden R Martin; M Ilyas Kamboh; Andrew J Saykin; Eric M Reiman; David A Bennett; John C Morris; Thomas J Montine; Alison M Goate; Deborah Blacker; Debby W Tsuang; Hakon Hakonarson; Walter A Kukull; Tatiana M Foroud; Jonathan L Haines; Richard Mayeux; Margaret A Pericak-Vance; Lindsay A Farrer; Gerard D Schellenberg
Journal:  Nat Genet       Date:  2011-04-03       Impact factor: 38.330

Review 9.  Apolipoprotein E as a β-amyloid-independent factor in Alzheimer's disease.

Authors:  Andrew B Wolf; Jon Valla; Guojun Bu; Jungsu Kim; Mary Jo LaDu; Eric M Reiman; Richard J Caselli
Journal:  Alzheimers Res Ther       Date:  2013-09-03       Impact factor: 6.982

10.  Missense variant in TREML2 protects against Alzheimer's disease.

Authors:  Bruno A Benitez; Sheng Chih Jin; Rita Guerreiro; Rob Graham; Jenny Lord; Denise Harold; Rebecca Sims; Jean-Charles Lambert; J Raphael Gibbs; Jose Bras; Celeste Sassi; Oscar Harari; Sarah Bertelsen; Michelle K Lupton; John Powell; Celine Bellenguez; Kristelle Brown; Christopher Medway; Patrick C G Haddick; Marcel P van der Brug; Tushar Bhangale; Ward Ortmann; Tim Behrens; Richard Mayeux; Margaret A Pericak-Vance; Lindsay A Farrer; Gerard D Schellenberg; Jonathan L Haines; Jim Turton; Anne Braae; Imelda Barber; Anne M Fagan; David M Holtzman; John C Morris; Julie Williams; John S K Kauwe; Philippe Amouyel; Kevin Morgan; Andy Singleton; John Hardy; Alison M Goate; Carlos Cruchaga
Journal:  Neurobiol Aging       Date:  2013-12-21       Impact factor: 4.673

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  177 in total

Review 1.  Dysregulation of Rab5-mediated endocytic pathways in Alzheimer's disease.

Authors:  Wei Xu; Fang Fang; Jianqing Ding; Chengbiao Wu
Journal:  Traffic       Date:  2018-02-05       Impact factor: 6.215

2.  Full-length amyloid precursor protein regulates lipoprotein metabolism and amyloid-β clearance in human astrocytes.

Authors:  Lauren K Fong; Max M Yang; Rodrigo Dos Santos Chaves; Sol M Reyna; Vanessa F Langness; Grace Woodruff; Elizabeth A Roberts; Jessica E Young; Lawrence S B Goldstein
Journal:  J Biol Chem       Date:  2018-06-01       Impact factor: 5.157

3.  Overexpression of the Insulin-Like Growth Factor II Receptor Increases β-Amyloid Production and Affects Cell Viability.

Authors:  Y Wang; V Buggia-Prévot; M E Zavorka; R C Bleackley; R G MacDonald; G Thinakaran; S Kar
Journal:  Mol Cell Biol       Date:  2015-05-04       Impact factor: 4.272

Review 4.  The use of pharmacological retromer chaperones in Alzheimer's disease and other endosomal-related disorders.

Authors:  Diego E Berman; Dagmar Ringe; Greg A Petsko; Scott A Small
Journal:  Neurotherapeutics       Date:  2015-01       Impact factor: 7.620

Review 5.  Challenges in essential tremor genetics.

Authors:  L N Clark; E D Louis
Journal:  Rev Neurol (Paris)       Date:  2015-05-21       Impact factor: 2.607

6.  Opposing effects of progranulin deficiency on amyloid and tau pathologies via microglial TYROBP network.

Authors:  Hideyuki Takahashi; Zoe A Klein; Sarah M Bhagat; Adam C Kaufman; Mikhail A Kostylev; Tsuneya Ikezu; Stephen M Strittmatter
Journal:  Acta Neuropathol       Date:  2017-01-09       Impact factor: 17.088

Review 7.  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

8.  Development of a Chimeric Model to Study and Manipulate Human Microglia In Vivo.

Authors:  Jonathan Hasselmann; Morgan A Coburn; Whitney England; Dario X Figueroa Velez; Sepideh Kiani Shabestari; Christina H Tu; Amanda McQuade; Mahshad Kolahdouzan; Karla Echeverria; Christel Claes; Taylor Nakayama; Ricardo Azevedo; Nicole G Coufal; Claudia Z Han; Brian J Cummings; Hayk Davtyan; Christopher K Glass; Luke M Healy; Sunil P Gandhi; Robert C Spitale; Mathew Blurton-Jones
Journal:  Neuron       Date:  2019-07-30       Impact factor: 17.173

Review 9.  Inflammatory mechanisms in neurodegeneration.

Authors:  Michael R Nichols; Marie-Kim St-Pierre; Ann-Christin Wendeln; Nyasha J Makoni; Lisa K Gouwens; Evan C Garrad; Mona Sohrabi; Jonas J Neher; Marie-Eve Tremblay; Colin K Combs
Journal:  J Neurochem       Date:  2019-03-27       Impact factor: 5.372

Review 10.  Developing therapeutic vaccines against Alzheimer's disease.

Authors:  Thomas Wisniewski; Eleanor Drummond
Journal:  Expert Rev Vaccines       Date:  2015-12-11       Impact factor: 5.217

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