George Roberts
3 Papers
14 Citations
George Roberts is an academic researcher. The author has contributed to research in topics: Presenilin & Gene. The author has an hindex of 3, co-authored 3 publications.
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Papers
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.
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Alteration in Brain Presenilin 1 mRNA Expression in Early Onset Familial Alzheimer's Disease
Amanda J. L. Barton,B Crook,Eric Karran,Felix H Brown,Deborah Dewar,D. M. A. Mann,R.C.A. Pearson,David I. Graham,John Hardy,Mike Hutton,Karen Duff,Alison Goate,Robert Clark,George Roberts +13 more
TL;DR: It is suggested that this long transcript of presenilin 1 may alter the normal pathway for processing of amyloid precursor protein, the protein which appears to be central in the pathogenesis of AD.
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The role of presenilin 1 in the genetics of Alzheimer's disease.
Robert Clark,Mike Hutton,Christopher Talbot,Michelle Wragg,Corinne Lendon,F. Busfield,Steve S.W. Han,Jordi Pérez-Tur,Mark Raymond Adams,Rebecca A. Fuldner,George Roberts,Eric Karran,John Hardy,Alison Goate +13 more
TL;DR: Identification of all susceptibility loci for AD is a major goal in resolving the pathogenesis of AD and the work on ApoE indicates that the epsilon 4 allele is a risk factor for developing AD.
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