Presenilin-1 protein expression in familial and sporadic Alzheimer's disease

Annals of Neurology
A I LeveyE J Mufson

Abstract

Mutations of the presenilin PS1 and PS2 genes are closely linked to aggressive forms of early-onset (< 60 years) familial Alzheimer's disease. A highly specific monoclonal antibody was developed to identify and characterize the native PS1 protein. Western blot analyses revealed a predominant 32-kd immunoreactive polypeptide in a variety of samples, including PC12 cells transfected with human PS1 complementary DNA, brain biopsy specimens from demented patients, and postmortem samples of frontal neocortex from early-onset familial Alzheimer's disease cases (PS1 and PS2), late-onset sporadic Alzheimer's disease cases, and cases of other degenerative disorders. This truncated polypeptide contains the N-terminus of PS1 and appeared unchanged across cases. In 2 early-onset cases linked to missense mutations in the PS1 gene, a PS1 immunoreactive protein (approximately 49 kd) accumulated in the frontal cortex. This protein was similar in size to full-length PS1 protein present in transfected cells overexpressing PS1 complementary DNA, and in lymphocytes from an affected individual with a deletion of exon 9 of the PS1 gene, suggesting that mutations of the PS1 gene peturb the endoproteolytic processing of the protein. Immunohistochemica...Continue Reading

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Citations

Mar 14, 2000·Neuroscience Letters·S SongH Takahashi
Apr 26, 2002·Neuroreport·Geneviève EvinJanetta G Culvenor
May 9, 2002·Neuroreport·Geneviève EvinJanetta G Culvenor
Sep 1, 2005·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·P K Panegyres, K Toufexis
Feb 27, 2008·Molecular and Cellular Biology·María-Ximena SilveyraJavier Sáez-Valero
Mar 26, 2010·Molecules : a Journal of Synthetic Chemistry and Natural Product Chemistry·R Scott DuncanPeter Koulen
Aug 5, 1998·Proceedings of the National Academy of Sciences of the United States of America·A TakashimaB Wolozin
Jun 12, 1999·American Journal of Human Genetics·S S SisodiaG Thinakaran
Apr 3, 2018·Journal of Biomolecular Structure & Dynamics·A L PascoiniI Camps
Feb 26, 2000·Hospital Practice·A I Levey
Jul 31, 1998·Reviews in the Neurosciences·P L McGeerE G McGeer
Aug 5, 2000·Molecular and Cellular Neurosciences·J J Lah, A I Levey
Jan 1, 1997·Neurobiology of Disease·T WisniewskiB Frangione
Jun 8, 2001·The American Journal of Pathology·D M MannUNKNOWN Members of the Familial Alzheimer's Disease Pathology Study Group

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