Articles with "wfs1" as a keyword



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Wolframin is a novel regulator of tau pathology and neurodegeneration

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Published in 2022 at "Acta Neuropathologica"

DOI: 10.1007/s00401-022-02417-4

Abstract: Selective neuronal vulnerability to protein aggregation is found in many neurodegenerative diseases including Alzheimer’s disease (AD). Understanding the molecular origins of this selective vulnerability is, therefore, of fundamental importance. Tau protein aggregates have been found… read more here.

Keywords: pathology; pathology neurodegeneration; wfs1; tau pathology ... See more keywords
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A nonsynonymous mutation in the WFS1 gene in a Finnish family with age-related hearing impairment

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Published in 2017 at "Hearing Research"

DOI: 10.1016/j.heares.2017.09.013

Abstract: Abstract Wolfram syndrome (WS) is caused by recessive mutations in the Wolfram syndrome 1 (WFS1) gene. Sensorineural hearing impairment (HI) is a frequent feature in WS and, furthermore, certain mutations in WFS1 cause nonsyndromic dominantly… read more here.

Keywords: hearing impairment; wfs1; mutation wfs1; wfs1 gene ... See more keywords
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Wfs1- deficient rats develop primary symptoms of Wolfram syndrome: insulin-dependent diabetes, optic nerve atrophy and medullary degeneration

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Published in 2017 at "Scientific Reports"

DOI: 10.1038/s41598-017-09392-x

Abstract: Wolfram syndrome (WS) is a rare autosomal-recessive disorder that is caused by mutations in the WFS1 gene and is characterized by juvenile-onset diabetes, optic atrophy, hearing loss and a number of other complications. Here, we… read more here.

Keywords: ex5 ko232; ko232 rats; atrophy; wfs1 ex5 ... See more keywords

Wfs1 is expressed in dopaminoceptive regions of the amniote brain and modulates levels of D1-like receptors

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Published in 2017 at "PLoS ONE"

DOI: 10.1371/journal.pone.0172825

Abstract: During amniote evolution, the construction of the forebrain has diverged across different lineages, and accompanying the structural changes, functional diversification of the homologous brain regions has occurred. This can be assessed by studying the expression… read more here.

Keywords: wfs1 expressed; expressed dopaminoceptive; brain regions; brain ... See more keywords