Alonso Martínez
University of Antioquia
21 Papers
161 Citations
Alonso Martínez is an academic researcher from University of Antioquia. The author has contributed to research in topics: Loss of heterozygosity & Tumor suppressor gene. The author has an hindex of 13, co-authored 21 publications. Previous affiliations of Alonso Martínez include University of Birmingham & Washington University in St. Louis.
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Papers
The E280A presenilin 1 Alzheimer mutation produces increased A beta 42 deposition and severe cerebellar pathology.
Cynthia A. Lemere,Francisco Lopera,Kenneth S. Kosik,Corinne Lendon,Jorge Ossa,Takaomi C. Saido,Haruyasu Yamaguchi,Adriana Ruiz,Alonso Martínez,Lucia Madrigal,Liliana Hincapié,Juan Carlos Arango,Douglas C. Anthony,Koo Eh,Alison Goate,Dennis J. Selkoe +15 more
TL;DR: The results in brain tissue are consistent with recent biochemical evidence of increased Aβ42 levels in PS1–FAD patients and strongly suggest that mutant PS1 proteins alter the proteolytic processing of the β–amyloid precursor protein at the C–terminus of Aβ to favor deposition of A β42.
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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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Clinical Features of Early-Onset Alzheimer Disease in a Large Kindred With an E280A Presenilin-1 Mutation
Francisco Lopera,Alfredo Ardilla,Alonso Martínez,Lucia Madrigal,Juan Carlos Arango-Viana,Cynthia A. Lemere,Juan Carlos Arango-Lasprilla,Liliana Hincapié,Mauricio Arcos-Burgos,Jorge Ossa,Isabella M. Behrens,Joanne Norton,C. Lendon,Alison Goate,Andres Ruiz-Linares,Monica Rosselli,Kenneth S. Kosik +16 more
TL;DR: Clinical features of a very large pedigree with early-onset Alzheimer disease 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.
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Complete analysis of the presenilin 1 gene in early onset Alzheimer's disease
Mike Hutton,F. Busfield,Michelle Wragg,Richard Crook,Jordi Pérez-Tur,Robert Clark,G. Prihar,C. Conover Talbot,Phillips H,Kristal Wright,Matt Baker,C. Lendon,Karen Duff,Alonso Martínez,H. Houlden,Nichols A,Eric Karran,G.W. Roberts,P Roques,Martin N. Rossor,Venter Jc,Adams,Cline Rt,Phillips Ca,Alison Goate +24 more
TL;DR: The intron/exon structure of the gene is elucidated and intronic primers are designed to enable direct sequencing of the entire coding region (10 exons) of the presenilin gene in a large number of families.
168
Frequent 3p allele loss and epigenetic inactivation of the RASSF1A tumour suppressor gene from region 3p21.3 in head and neck squamous cell carcinoma
R.P Hogg,Sofia Honorio,Alonso Martínez,Angelo Agathanggelou,Ashraf Dallol,Paul Fullwood,Ralph R. Weichselbaum,M J Kuo,Eamonn R. Maher,Farida Latif +9 more
TL;DR: 3p loss is common in HNSCC and extensive 3p loss occurs even in early stage tumours, and in the presence of homozygous inactivation of other 3p TSGs, RASSF1A haploinsufficiency might be sufficient to promote tumourigenesis in many H NSCC.
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