PMID: 11911984Mar 26, 2002Paper

Effects on splicing and protein function of three mutations in codon N296 of tau in vitro

Neuroscience Letters
Andrew GroverMike Hutton

Abstract

Three Mutations were recently reported in the same codon (N296) in exon 10 of the tau gene. Two of these mutations, N296N and N296H, lead to a clinical syndrome similar to autosomal dominant fronto-temporal dementia with Parkinsonism linked to chromosome 17. In contrast the third mutation, delN296, gives rise to atypical progressive supranuclear palsy in individuals homozygous for the mutation, but in heterozygous individuals this mutation is incompletely penetrant and associated with a phenotype similar to idiopathic Parkinson's disease. Functional assays were employed to determine the effects of these mutations on alternative splicing of exon 10, on microtubule assembly and self-aggregation of recombinant tau protein. We demonstrate that these mutations exhibit a spectrum of potentially pathogenic changes in tau function, and provide insight into the possible cause of the incompletely penetrant phenotype of the delN296 mutation.

References

Jun 18, 1998·Annals of Neurology·P PoorkajG D Schellenberg
Jun 24, 1998·Proceedings of the National Academy of Sciences of the United States of America·M G SpillantiniB Ghetti

❮ Previous
Next ❯

Citations

Jul 16, 2008·Neurotherapeutics : the Journal of the American Society for Experimental NeuroTherapeutics·Anja Schneider, Eckhard Mandelkow
Dec 10, 2002·Trends in Molecular Medicine·Esther M Ingram, Maria G Spillantini
Nov 26, 2003·Experimental Neurology·Andrew GroverMichael Hutton
Oct 21, 2004·The Journal of Pathology·Nigel J CairnsJohn Q Trojanowski
Nov 4, 2015·Frontiers in Aging Neuroscience·Giacomina Rossi, Fabrizio Tagliavini
Jun 17, 2004·Journal of Neurochemistry·Qingming YuJianhua Zhou
Jun 9, 2007·Neurobiology of Disease·Tara M Caffrey, Richard Wade-Martins
May 12, 2007·Brain Pathology·John van Swieten, Maria Grazia Spillantini
Dec 24, 2004·Biochimica Et Biophysica Acta·Ian D'Souza, Gerard D Schellenberg
Dec 24, 2004·Biochimica Et Biophysica Acta·Li-Wen KoShu-Hui Yen
Dec 24, 2004·Biochimica Et Biophysica Acta·Roland BrandtNeelam Shahani
Dec 24, 2004·Biochimica Et Biophysica Acta·Michel Goedert, Ross Jakes
Nov 18, 2015·Oxidative Medicine and Cellular Longevity·Seyedeh Maryam Alavi Naini, Nadia Soussi-Yanicostas
Oct 26, 2016·Brain Research Bulletin·Thomas ArendtMax Holzer
Nov 7, 2012·Cell Transplantation·Ru-Huei FuShinn-Zong Lin
Mar 3, 2004·Annals of Neurology·Giacomina RossiFabrizio Tagliavini
Mar 3, 2004·Annals of Neurology·Rafael Oliva, Pau Pastor
Sep 15, 2004·Human Mutation·R RademakersC van Broeckhoven
Apr 26, 2007·Protein Science : a Publication of the Protein Society·Shahin ZibaeeLouise C Serpell
Jun 29, 2007·Neuro-degenerative Diseases·Laura GaspariniMaria Grazia Spillantini
Feb 12, 2019·Laboratory Investigation; a Journal of Technical Methods and Pathology·Kevin H StrangBenoit I Giasson
Aug 11, 2005·Movement Disorders : Official Journal of the Movement Disorder Society·Michel Goedert
May 4, 2004·Nature Biotechnology·Mariano A Garcia-BlancoErika L Lasda
Sep 22, 2018·International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience·Marwa Ben JdilaFaiza Fakhfakh
May 10, 2017·Frontiers in Neuroscience·Mariana Vargas-CaballeroRichard Wade-Martins
Aug 8, 2020·The Journal of Biological Chemistry·Shotaro ShimonakaYumiko Motoi
Sep 22, 2020·Molecular and Cellular Neurosciences·Georgie LinesSelina Wray

❮ Previous
Next ❯

Related Concepts

Related Feeds

Alternative splicing

Alternative splicing a regulated gene expression process that allows a single genetic sequence to code for multiple proteins. Here is that latest research.