Zobrazeno 1 - 10
of 35
pro vyhledávání: '"G. Prihar"'
Autor:
Susan E. Browne, John Hardy, Jungsu Kim, Mike Hutton, Leonard Petrucelli, Richard Voellmy, Yoshio Tsuboi, Julie P. Taylor, G. Prihar, Ted M. Dawson, Eileen McGowan, Alexis Hall, Benjamin Wolozin, Andrew Grover, Heather Snyder, Michael De Lucia, Kathryn Kehoe, Jada Lewis, Dennis W. Dickson, Wolfgang H. Dillmann
Publikováno v:
Human Molecular Genetics. 13:703-714
Molecular chaperones, ubiquitin ligases and proteasome impairment have been implicated in several neurodegenerative diseases, including Alzheimer's and Parkinson's disease, which are characterized by accumulation of abnormal protein aggregates (e.g.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fce71f7278406926e782b1f47403a6c6
https://doi.org/10.1093/hmg/ddh083
https://doi.org/10.1093/hmg/ddh083
Autor:
Henry Houlden, Richard Crook, John Hardy, Matt Baker, Martin N. Rossor, C. Van Broeckhoven, Mike Hutton, G. Prihar, J. J. Martin, H Backhovens
Publikováno v:
American Journal of Medical Genetics. 81:117-121
The apolipoprotein E (ApoE) genotype is a significant risk factor and modulator of age of onset of Alzheimer's disease (AD). We analyzed the effect of the ApoE genotype in two distinct early-onset familial AD groups: families with a mutation in the p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bbdf86e15c008b8c5e565ec344480476
https://doi.org/10.1002/(sici)1096-8628(19980207)81:1<117::aid-ajmg19>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19980207)81:1<117::aid-ajmg19>3.0.co
Autor:
Paul Hinder, Debra Yager, Richard Crook, Eric Pfeiffer, Cristian Mihail Prada, Jordi Pérez-Tur, Nitin D. Mehta, Neill R. Graff-Radford, Brenda Zenk, Steven G. Younkin, Lawrence M. Refolo, Christopher B. Eckman, G. Prihar, Mike Hutton, John Hardy
Publikováno v:
Human Molecular Genetics. 6:2087-2089
We report a novel mutation in the amyloid precursor protein gene (APP I716V) which probably leads to familial early onset Alzheimer's disease with an onset age in the mid 50s. Cells transfected with cDNAs bearing this mutation produce more A beta 1-4
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ecbdd5143ca20edb782fe74898a8895a
https://doi.org/10.1093/hmg/6.12.2087
https://doi.org/10.1093/hmg/6.12.2087
Autor:
Christopher Talbot, Richard Crook, John Hardy, Mike Hutton, H. Houlden, Nicholas John Craddock, G. Prihar, Alison Goate, John C. Morris, C. Lendon
Publikováno v:
Europe PubMed Central
Scopus-Elsevier
Scopus-Elsevier
The ApoE-epsilon 4 allele is a predisposing factor for late onset Alzheimer's disease (AD), however it is neither necessary nor sufficient to cause the disease. A candidate for explaining part of the remaining genetic component is alpha 1-antichymotr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::adfd4c708c1b869779be8d8800aeb3f9
https://doi.org/10.1097/00001756-199601310-00038
https://doi.org/10.1097/00001756-199601310-00038
Autor:
Henry Houlden, Mirja Somer, Sarah Lincoln, Auli Verkkoniem, John Hardy, G. Prihar, Mike Hutton, Andrew Grover, Hannu Kalimo, Jordi Pérez-Tur, Matti Haltia, Anders Paetau, Richard Crook, Liisa Myllykangas
Publikováno v:
Nature medicine. 5(10)
To the editorThe clinical, pathological, and genetic analyses of a Finnish pedigree (Finn2) with early-onset inherited Alzheimer disease (AD) have been reported1. This family demonstrated linkage to the PS1 region of chromosome 14, and analysis for
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d5e27900a24bc61d2b16c8a6c4a7db8f
https://pubmed.ncbi.nlm.nih.gov/10502791
https://pubmed.ncbi.nlm.nih.gov/10502791
Autor:
Richard Crook, Mike Hutton, G. Prihar, Gonzalez de Chavez F, A. Grover, Eileen McGowan, John Hardy, Matt Baker
Publikováno v:
Neuroreport. 10(7)
The yeast two-hybrid system, immunofluorescence and co-immunoprecipitation techniques were used to identify a novel candidate protein with which presenilin-1 (PS-1) interacts. This interacting protein, the gene of which is encoded on chromosome 16, c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a7867eda8d7693cac199318e479bab9
https://pubmed.ncbi.nlm.nih.gov/10380955
https://pubmed.ncbi.nlm.nih.gov/10380955
Autor:
Henry Houlden, Matt Baker, Jada Lewis, Andrew Grover, G. Prihar, Mike Hutton, Jennifer Adamson, Karen Duff, Stuart Pickering-Brown
Publikováno v:
University of Manchester-PURE
Missense and splice site mutations in the microtubule-associated protein tau gene were recently found associated with fronto-temporal dementia and parkinsonism linked to chromosome 17 (Poorkaj et al. (1998) Ann. Neurol. 43, 815-825; Hutton et al. (19
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6acd051c212f0c567b5e7901ddc4652c
https://pubmed.ncbi.nlm.nih.gov/10329720
https://pubmed.ncbi.nlm.nih.gov/10329720
Autor:
H, Houlden, R, Crook, H, Backhovens, G, Prihar, M, Baker, M, Hutton, M, Rossor, J J, Martin, C, Van Broeckhoven, J, Hardy
Publikováno v:
American journal of medical genetics. 81(1)
The apolipoprotein E (ApoE) genotype is a significant risk factor and modulator of age of onset of Alzheimer's disease (AD). We analyzed the effect of the ApoE genotype in two distinct early-onset familial AD groups: families with a mutation in the p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::0af270d3d9768e2ea0c263ff36da7d8c
https://pubmed.ncbi.nlm.nih.gov/9514597
https://pubmed.ncbi.nlm.nih.gov/9514597
Autor:
D M, Mann, T, Iwatsubo, N J, Cairns, P L, Lantos, D, Nochlin, S M, Sumi, T D, Bird, P, Poorkaj, J, Hardy, M, Hutton, G, Prihar, R, Crook, M N, Rossor, M, Haltia
Publikováno v:
Annals of neurology. 40(2)
Amyloid beta protein (Abeta) deposition was investigated in the frontal cortex of 8 cases of (genetically confirmed) chromosome 14-linked Alzheimer's disease (AD) using the end-specific monoclonal antibodies BA27 and BC05 to detect the presence of Ab
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::8ade526c0751f096e87d6ff0125dab6a
https://pubmed.ncbi.nlm.nih.gov/8773595
https://pubmed.ncbi.nlm.nih.gov/8773595
Autor:
J, Perez-Tur, S, Froelich, G, Prihar, R, Crook, M, Baker, K, Duff, M, Wragg, F, Busfield, C, Lendon, R F, Clark
Publikováno v:
Neuroreport. 7(1)
A series of mutations has been reported in the presenilin-1 (PS-1) gene which cause early onset Alzheimer's disease (AD). The mutations reported to date have encoded missense mutations which alter residues conserved between PS-1 and the presenilin-2
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::82eb6e79b1855acabb9547891e8b4554
https://pubmed.ncbi.nlm.nih.gov/8742474
https://pubmed.ncbi.nlm.nih.gov/8742474