| Wolfram syndrome and WFS1 gene. | |
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MedLine Citation:
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PMID: 20738327 Owner: NLM Status: In-Process |
Abstract/OtherAbstract:
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Wolfram syndrome (WS) (MIM 222300) is a rare multisystem neurodegenerative disorder of autosomal recessive inheritance, also known as DIDMOAD (diabetes insipidus, insulin-deficient diabetes mellitus, optic atrophy and deafness). A Wolfram gene (WFS1) has been mapped to chromosome 4p16.1 which encodes an endoplasmic reticulum (ER) membrane-embedded protein. ER localization suggests that WFS1 protein has physiological functions in membrane trafficking, secretion, processing and/or regulation of ER calcium omeostasis. Disturbances or overloading of these functions induce ER stress responses, including apoptosis. Most WS patients carry mutations in this gene, but some studies provided evidence for genetic heterogeneity, and the genotype-phenotype relationships are not clear. Here we review the data regarding the mechanisms and the mutations of WFS1 gene that relate to WS. |
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Authors:
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L Rigoli; F Lombardo; C Di Bella |
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Publication Detail:
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Type: Journal Article Date: 2010-08-26 |
Journal Detail:
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Title: Clinical genetics Volume: 79 ISSN: 1399-0004 ISO Abbreviation: Clin. Genet. Publication Date: 2011 Feb |
Date Detail:
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Created Date: 2011-01-07 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0253664 Medline TA: Clin Genet Country: Denmark |
Other Details:
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Languages: eng Pagination: 103-17 Citation Subset: IM |
Copyright Information:
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© 2010 John Wiley & Sons A/S. |
Affiliation:
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Department of Pediatrics, University Hospital, Messina, Italy. luciana.rigoli@unime.it |
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