Familial frontotemporal dementia and parkinsonism with a novel N296H mutation in exon 10 of the tau gene and a widespread tau accumulation in the glial cells

2001 ◽  
Vol 102 (3) ◽  
pp. 285-292 ◽  
Author(s):  
Eizo Iseki ◽  
Takehiko Matsumura ◽  
Wami Marui ◽  
Hiroaki Hino ◽  
Toshinari Odawara ◽  
...  
Keyword(s):  
Frontotemporal Dementia ◽  
Glial Cells ◽  
Exon 10

Tau mutations altering splicing of tau exon 10 in japanese frontotemporal dementia

2001 ◽  
pp. 81-84
Author(s):  
Minoru Yasuda ◽  
Junichi Takamatsu ◽  
Osamu Komure ◽  
Sadako Kuno ◽  
Ian D’Souza ◽  
...  
Keyword(s):  
Frontotemporal Dementia ◽  
Exon 10

Mutation in thetau exon 10 splice site region in familial frontotemporal dementia

1999 ◽  
Vol 45 (2) ◽  
pp. 270-271 ◽  
Author(s):  
H. R. Morris ◽  
J. Perez-Tur ◽  
J. C. Janssen ◽  
J. Brown ◽  
A. J. Lees ◽  
...  
Keyword(s):  
Frontotemporal Dementia ◽  
Splice Site ◽  
Exon 10

scholarly journals From genetics to pathology: tau and a–synuclein assemblies in neurodegenerative diseases

2001 ◽  
Vol 356 (1406) ◽  
pp. 213-227 ◽  
Author(s):  
Michel Goedert ◽  
Maria Grazia Spillantini ◽  
Louise C. Serpell ◽  
John Berriman ◽  
Michael J. Smith ◽  
...  
Keyword(s):  
Human Brain ◽  
Neurodegenerative Diseases ◽  
Frontotemporal Dementia ◽  
Glial Cells ◽  
Tau Protein ◽  
Nerve Cells ◽  
Degenerative Diseases ◽  
Protein Tau ◽  
Microtubule Associated Protein Tau ◽  
Filamentous Inclusions

The most common degenerative diseases of the human brain are characterized by the presence of abnormal filamentous inclusions in affected nerve cells and glial cells. These diseases can be grouped into two classes, based on the identity of the major proteinaceous components of the filamentous assemblies. The filaments are made of either the microtubule–associated protein tau or the protein α–synuclein. Importantly, the discovery of mutations in the tau gene in familial forms of frontotemporal dementia and of mutations in the α–synuclein gene in familial forms of Parkinson's disease has established that dysfunction of tau protein and α–synuclein can cause neurodegeneration.

scholarly journals An SRp75/hnRNPG complex interacting with hnRNPE2 regulates the 5′ splice site of tau exon 10, whose misregulation causes frontotemporal dementia

Gene ◽  
2011 ◽  
Vol 485 (2) ◽  
pp. 130-138 ◽  
Author(s):  
Yan Wang ◽  
Junning Wang ◽  
Lei Gao ◽  
Stefan Stamm ◽  
Athena Andreadis
Keyword(s):  
Frontotemporal Dementia ◽  
Splice Site ◽  
Exon 10

scholarly journals SFRS7-Mediated Splicing of Tau Exon 10 Is Directly Regulated by STOX1A in Glial Cells

PLoS ONE ◽  
2011 ◽  
Vol 6 (7) ◽  
pp. e21994 ◽  
Author(s):  
Daan van Abel ◽  
Dennis R. Hölzel ◽  
Shushant Jain ◽  
Fiona M. F. Lun ◽  
Yama W. L. Zheng ◽  
...  
Keyword(s):  
Glial Cells ◽  
Exon 10

Current Concepts in the Classification and Diagnosis of Frontotemporal Lobar Degenerations: A Practical Approach

2014 ◽  
Vol 138 (1) ◽  
pp. 132-138 ◽  
Author(s):  
Zdenek Rohan ◽  
Radoslav Matej
Keyword(s):  
Frontotemporal Dementia ◽  
Glial Cells ◽  
Tau Protein ◽  
Frontotemporal Lobar Degeneration ◽  
Dna Binding Protein ◽  
Nonfluent Aphasia ◽  
Fused In Sarcoma ◽  
Clinical Syndromes ◽  
Pathologic Processes ◽  
Progressive Nonfluent Aphasia

Frontotemporal lobar degenerations are clinically, genetically, and molecularly heterogeneous diseases characterized by mainly frontal and temporal atrophy and affecting behavioral, language, cognitive, and motor functions. The term frontotemporal dementia incorporates 3 distinct clinical syndromes seen in frontotemporal degenerations: behavioral variant of frontotemporal dementia, progressive nonfluent aphasia, and semantic dementia. Progressive supranuclear palsy syndrome, corticobasal syndrome, and motor neuron disease syndrome are also associated with frontotemporal lobar degenerations. The neuropathologic hallmark of frontotemporal lobar degenerations is accumulation of abnormal proteins in the cytoplasm and nuclei of neurons and glial cells. Proteins involved in pathologic processes that represent the basis for frontotemporal lobar degeneration classification are tau protein, transactive response DNA-binding protein of 43 kDa, and “fused in sarcoma” protein. The aim of this review is to provide a summary of practical approaches for neuropathologic diagnostics of the rapidly evolving classifications of frontotemporal lobar degenerations.

scholarly journals Structure of tau exon 10 splicing regulatory element RNA and destabilization by mutations of frontotemporal dementia and parkinsonism linked to chromosome 17

1999 ◽  
Vol 96 (14) ◽  
pp. 8229-8234 ◽  
Author(s):  
L. Varani ◽  
M. Hasegawa ◽  
M. G. Spillantini ◽  
M. J. Smith ◽  
J. R. Murrell ◽  
...  
Keyword(s):  
Frontotemporal Dementia ◽  
Regulatory Element ◽  
Chromosome 17 ◽  
Exon 10

scholarly journals Tau exon 10, whose missplicing causes frontotemporal dementia, is regulated by an intricate interplay of cis elements and trans factors

2004 ◽  
Vol 88 (5) ◽  
pp. 1078-1090 ◽  
Author(s):  
Junning Wang ◽  
Qing-Sheng Gao ◽  
Yingzi Wang ◽  
Robert Lafyatis ◽  
Stefan Stamm ◽  
...  
Keyword(s):  
Frontotemporal Dementia ◽  
Cis Elements ◽  
Exon 10
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