A pathogenic variant in the FLCN gene presenting with pure dementia: is autophagy at the intersectio...
A pathogenic variant in the FLCN gene presenting with pure dementia: is autophagy at the intersection between neurodegeneration and cancer?
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Publisher
Switzerland: Frontiers Research Foundation
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Language
English
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Publisher
Switzerland: Frontiers Research Foundation
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Contents
Folliculin, encoded by
gene, plays a role in the mTORC1 autophagy cascade and its alterations are responsible for the Birt-Hogg-Dubé (BHD) syndrome, characterized by follicle hamartomas, kidney tumors and pneumothorax.
We report a 74-years-old woman diagnosed with dementia and carrying a
alteration in absence of any sign of BHD. She also c...
Alternative Titles
Full title
A pathogenic variant in the FLCN gene presenting with pure dementia: is autophagy at the intersection between neurodegeneration and cancer?
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Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_99b843a6634346d09b124a847f9bf761
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_99b843a6634346d09b124a847f9bf761
Other Identifiers
ISSN
1662-453X,1662-4548
E-ISSN
1662-453X
DOI
10.3389/fnins.2023.1304080
