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Journal article

Reduced cholesterol levels impair Smoothened activation in Smith-Lemli-Opitz syndrome

Abstract:

Smith–Lemli–Opitz syndrome (SLOS) is a common autosomal-recessive disorder that results from mutations in the gene encoding the cholesterol biosynthetic enzyme 7-dehydrocholesterol reductase (DHCR7). Impaired DHCR7 function is associated with a spectrum of congenital malformations, intellectual impairment, epileptiform activity and autism spectrum disorder. Biochemically, there is a deficit in cholesterol and an accumulation of its metabolic precursor 7-dehydrocholesterol (7DHC) in developing...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1093/hmg/ddv507

Authors


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Institution:
University of Oxford
Division:
MSD
Department:
Clinical Neurosciences
Research group:
Oxford Epilepsy Research Group
Role:
Author
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Name:
Simons Foundation
Grant:
202084
More from this funder
Name:
Medical Research Council
Grant:
U117560541
Publisher:
Oxford University Press
Journal:
Human Molecular Genetics More from this journal
Volume:
25
Issue:
4
Pages:
693–705
Publication date:
2015-12-18
DOI:
EISSN:
1460-2083
ISSN:
0964-6906
Pubs id:
pubs:581076
UUID:
uuid:1ccdd3fb-f3d7-486f-aee7-4e92bee29398
Local pid:
pubs:581076
Source identifiers:
581076
Deposit date:
2016-01-05

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