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Ian D'Souza
Researcher at University of Washington
Publications - 21
Citations - 2130
Ian D'Souza is an academic researcher from University of Washington. The author has contributed to research in topics: Exon & Frontotemporal dementia and parkinsonism linked to chromosome 17. The author has an hindex of 16, co-authored 21 publications receiving 2035 citations. Previous affiliations of Ian D'Souza include Forest Research Institute & Veterans Health Administration.
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Journal ArticleDOI
Missense and silent tau gene mutations cause frontotemporal dementia with parkinsonism-chromosome 17 type, by affecting multiple alternative RNA splicing regulatory elements
Ian D'Souza,Parvoneh Poorkaj,Ming Hong,David Nochlin,Virginia M.-Y. Lee,Thomas D. Bird,Gerard D. Schellenberg +6 more
TL;DR: It is shown that missense, silent, and intronic tau mutations can increase or decrease splicing of tau exon 10 (E10) by acting on 3 different cis-acting regulatory elements.
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Pathogenic implications of mutations in the tau gene in pallido-ponto-nigral degeneration and related neurodegenerative disorders linked to chromosome 17
Lorraine N. Clark,Parvoneh Poorkaj,Zbigniew K. Wszolek,Daniel H. Geschwind,Ziad S. Nasreddine,Bruce L. Miller,Diane Li,Haydeh Payami,Fre Awert,Katerina Markopoulou,Athena Andreadis,Ian D'Souza,Virginia M.-Y. Lee,Lee Reed,John Q. Trojanowski,Victoria Zhukareva,Thomas D. Bird,Gerard D. Schellenberg,Kirk C. Wilhelmsen +18 more
TL;DR: In this paper, two missense mutations in exon 10 of the tau gene that segregate with disease, Asn279(Lys) in the Pallido-ponto-nigral degeneration (PPND) kindred and Pro301(Leu) in four other FTDP-17 kindred were found.
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Regulation of tau isoform expression and dementia.
TL;DR: The publication of FTDP-17 highlights the association between splicing mutations and the pronounced variability in pathology as well as phenotype that is characteristic of inherited disorders.
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Tau isoform regulation is region- and cell-specific in mouse brain.
Pamela J. McMillan,Elena Korvatska,Parvoneh Poorkaj,Zana Evstafjeva,Linda C. Robinson,Lynne Greenup,Lynne Greenup,James B. Leverenz,James B. Leverenz,Gerard D. Schellenberg,Ian D'Souza +10 more
TL;DR: Differences between mouse and human tau in the regulation of exon 10 inclusion are found and all tau, both in the neonate and young adult, is phosphorylated, which is important to the understanding of normal and pathologic tau isoform expression.
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Determinants of 4-repeat tau expression. Coordination between enhancing and inhibitory splicing sequences for exon 10 inclusion.
TL;DR: In this paper, a mutational analysis of E10 was performed to determine the mechanism of normal E10 splicing regulation and how FTDP-17 mutations alter splicing, and the results showed that E10 contains a complex array of both enhancer and inhibitorcis-acting elements that modulate usage of a weak 5′ splice site.