K
Ken Kosik
Researcher at University of California, Santa Barbara
Publications - 7
Citations - 887
Ken Kosik is an academic researcher from University of California, Santa Barbara. The author has contributed to research in topics: Genome-wide association study & Age of onset. The author has an hindex of 5, co-authored 7 publications receiving 838 citations. Previous affiliations of Ken Kosik include Brigham and Women's Hospital.
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Journal ArticleDOI
The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families
Robert Clark,Mike Hutton,Rebecca A. Fuldner,Sue Froelich,Eric Karran,Christopher Talbot,Richard Crook,Corinne Lendon,Guy Prihar,C He,Kevin M. Korenblat,Alonso Martínez,Alonso Martínez,Michelle Wragg,F. Busfield,Maria I. Behrens,Amanda J. Myers,Joanne Norton,John C. Morris,N Mehta,Chad G. Pearson,Sarah Lincoln,M Baker,Karen Duff,C Zehr,Jordi Pérez-Tur,Harry Houlden,Adriana Ruiz,Jorge Ossa,Francisco Lopera,M. Arcos,Lucia Madrigal,John Collinge,C Humphreys,T Ashworth,S Sarner,Nick C. Fox,R Harvey,A Kennedy,P Roques,Cline Rt,Phillips Ca,Venter Jc,Lotta Forsell,Karin Axelman,Lena Lilius,Janet A. Johnston,R Cowburn,Matti Viitanen,Bengt Winblad,Ken Kosik,Matti Haltia,Minna Pöyhönen,Dennis W. Dickson,David G. Mann,D Neary,Julie S. Snowden,Peter L. Lantos,Lars Lannfelt,Martin N. Rossor,George Roberts,Mark Raymond Adams,John Hardy,Alison Goate +63 more
TL;DR: This work has localized the PS-1 gene to a 75 kb region and present the structure of this gene, evidence for alternative splicing and describe six novel mutations in early onset FAD pedigrees all of which alter residues conserved in the STM26 (Presenilin 2: PS-2) gene.
Journal ArticleDOI
Clinical features of early-onset Alzheimer disease in a large kindred with an E280A presenilis-1 mutation.
Francisco Lopera,A Ardilla,Ariel F. Martinez,Lucia Madrigal,Juan Carlos Arango-Viana,Cynthia A. Lemere,Juan Carlos Arango-Lasprilla,Liliana Hincapié,Mauricio Arcos-Burgos,Jorge Ossa,IM Behrens,Joanne Norton,C. Lendon,Alison Goate,Andres Ruiz-Linares,MM Roselli,Ken Kosik +16 more
TL;DR: Clinical features of a very large pedigree with early-onset Alzheimer disease (AD) in which all affected individuals carry the identical glutamic acid-to-alanine mutation at codon 280 in the presenilin-1 gene are characterized, suggesting an important role for environmental factors or genetic modifiers in determining the age at onset.
Journal ArticleDOI
CHIP and HSPs interact with β-APP in a proteasome-dependent manner and influence Aβ metabolism
Pravir Kumar,Rashmi K. Ambasta,Vimal Veereshwarayya,Kenneth M. Rosen,Ken Kosik,Hamid Band,Ruben Mestril,Cam Patterson,Henry W. Querfurth +8 more
TL;DR: It is concluded that CHIP, as a bimolecular switch, interacts with HSP to stabilize normal holo-betaAPP on the one hand while also assisting in the ubiquitination of a subpopulation of betaAPP molecules that are destined for proteasome degradation.
Journal ArticleDOI
Whole-genome sequencing suggests a chemokine gene cluster that modifies age at onset in familial Alzheimer's disease
Matthew A. Lalli,Brianne M. Bettcher,Mary Luz Arcila,G. Garcia,C Guzman,Lucia Madrigal,Laura Ramírez,Juliana Acosta-Uribe,Andres Baena,Kevin Wojta,Giovanni Coppola,Ryan Fitch,M. D. De Both,Matthew J. Huentelman,Eric M. Reiman,Eric M. Reiman,Mary E. Brunkow,Gustavo Glusman,Jared C. Roach,Aimee W. Kao,Francisco Lopera,Ken Kosik +21 more
TL;DR: Eotaxin-1 appears to modify Alzheimer's AAO, conferring a large (~10 years) protective effect and open potential avenues for therapy.
Journal ArticleDOI
Pooling/bootstrap-based GWAS (pbGWAS) identifies new loci modifying the age of onset in PSEN1 p.Glu280Ala Alzheimer's disease
Jorge I. Vélez,Settara C. Chandrasekharappa,Eliana Henao,Ariel F. Martinez,Ursula Harper,MaryPat Jones,Benjamin D. Solomon,Liliana Lopez,G. Garcia,Daniel Camilo Aguirre-Acevedo,Natalia Acosta-Baena,Juan Carlos Correa,Carlos Mario Lopera-Gómez,Mario César Jaramillo-Elorza,Dora Rivera,Ken Kosik,Nicholas J. Schork,James M. Swanson,James M. Swanson,Francisco Lopera,Mauricio Arcos-Burgos,Mauricio Arcos-Burgos,Mauricio Arcos-Burgos +22 more
TL;DR: A novel sequential strategy that combines pooling of DNA and bootstrapping (pbGWAS) in order to significantly increase the statistical power and exponentially reduce expenses is described, which could provide important insights in determining the genetic causes of AD and other complex conditions.