Literature DB >> 16278862

Ubiquilin 1 polymorphisms are not associated with late-onset Alzheimer's disease.

Scott Smemo1, Petra Nowotny, Anthony L Hinrichs, John S K Kauwe, Sara Cherny, Katherine Erickson, Amanda J Myers, Mona Kaleem, Lauren Marlowe, Alison M Gibson, Paul Hollingworth, Michael C O'Donovan, Chris M Morris, Peter Holmans, Simon Lovestone, John C Morris, Leon Thal, Yonghong Li, Andrew Grupe, John Hardy, Michael J Owen, Julie Williams, Alison Goate.   

Abstract

Several studies have reported evidence for linkage of late-onset Alzheimer's disease (LOAD) to chromosome 9. Recently, an intronic polymorphism affecting alternative splicing of exon 8 of ubiquilin 1 (UBQLN1) was reported to be associated with LOAD. We attempted to replicate this observation by genotyping this polymorphism, rs12344615 (also known as UBQ-8i), in a large sample of 1,544 LOAD cases and 1,642 nondemented controls. We did not find any evidence that this single nucleotide polymorphism, or any of six others tested in UBQLN1, increases risk for LOAD.

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Year:  2006        PMID: 16278862     DOI: 10.1002/ana.20673

Source DB:  PubMed          Journal:  Ann Neurol        ISSN: 0364-5134            Impact factor:   10.422


  16 in total

Review 1.  Aggresome formation and neurodegenerative diseases: therapeutic implications.

Authors:  J A Olzmann; L Li; L S Chin
Journal:  Curr Med Chem       Date:  2008       Impact factor: 4.530

Review 2.  Alzheimer's disease: epidemiology, genetics, and beyond.

Authors:  Xiao-Ping Wang; Hong-Liu Ding
Journal:  Neurosci Bull       Date:  2008-04       Impact factor: 5.203

3.  Dimerization of ubiquilin is dependent upon the central region of the protein: evidence that the monomer, but not the dimer, is involved in binding presenilins.

Authors:  Diana L Ford; Mervyn J Monteiro
Journal:  Biochem J       Date:  2006-11-01       Impact factor: 3.857

4.  Ubiquilin-1 is a molecular chaperone for the amyloid precursor protein.

Authors:  Emily S Stieren; Amina El Ayadi; Yao Xiao; Efraín Siller; Megan L Landsverk; Andres F Oberhauser; José M Barral; Darren Boehning
Journal:  J Biol Chem       Date:  2011-08-18       Impact factor: 5.157

5.  Association of UBQLN1 mutation with Brown-Vialetto-Van Laere syndrome but not typical ALS.

Authors:  Paloma González-Pérez; Yubing Lu; Ru-Ju Chian; Peter C Sapp; Rudolph E Tanzi; Lars Bertram; Diane McKenna-Yasek; Fen-Biao Gao; Robert H Brown
Journal:  Neurobiol Dis       Date:  2012-07-03       Impact factor: 5.996

6.  The ubiquitin-proteasome system and the autophagic-lysosomal system in Alzheimer disease.

Authors:  Yasuo Ihara; Maho Morishima-Kawashima; Ralph Nixon
Journal:  Cold Spring Harb Perspect Med       Date:  2012-08-01       Impact factor: 6.915

7.  Ubiquilin overexpression reduces GFP-polyalanine-induced protein aggregates and toxicity.

Authors:  Hongmin Wang; Mervyn J Monteiro
Journal:  Exp Cell Res       Date:  2007-04-06       Impact factor: 3.905

8.  Immunohistochemical analysis of ubiquilin-1 in the human hippocampus: association with neurofibrillary tangle pathology.

Authors:  Katsuyoshi Mizukami; Eric E Abrahamson; Zhiping Mi; Masanori Ishikawa; Kazushi Watanabe; Setsuo Kinoshita; Takashi Asada; Milos D Ikonomovic
Journal:  Neuropathology       Date:  2013-07-21       Impact factor: 1.906

9.  Role of X11 and ubiquilin as in vivo regulators of the amyloid precursor protein in Drosophila.

Authors:  Garrett G Gross; R M Renny Feldman; Atish Ganguly; Jinhui Wang; Hong Yu; Ming Guo
Journal:  PLoS One       Date:  2008-06-25       Impact factor: 3.240

10.  Studies of the role of ubiquitination in the interaction of ubiquilin with the loop and carboxyl terminal regions of presenilin-2.

Authors:  Diana L Ford; Mervyn J Monteiro
Journal:  Biochemistry       Date:  2007-07-06       Impact factor: 3.162

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