Linked Life Data

12670916

Source:http://linkedlifedata.com/resource/pubmed/id/12670916

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
7
pubmed:dateCreated
2003-4-2
pubmed:abstractText
The tumor suppressor gene PATCHED1 (PTCH1) is mutated in sporadic and inherited forms of basal cell carcinoma. PTCH1 binds Hedgehog proteins and inhibits signaling in the absence of ligand. Although PTCH1 mutations are proposed to reduce or abolish protein function, few mutations have been tested for activity. We introduced six PTCH1 missense mutations into mouse patched1 and tested them in murine cells deficient for patched1 function. Three mutants retained significant activity. Three other mutants had little or no function, and of these, two were retained in the secretory pathway. These studies indicate that missense mutations can abolish PTCH1 function by blocking protein maturation.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
0008-5472
pubmed:author
pubmed:issnType
Print
pubmed:day
1
pubmed:volume
63
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1636-8
pubmed:dateRevised
2008-11-21
pubmed:meshHeading
pubmed:year
2003
pubmed:articleTitle
Several human PATCHED1 mutations block protein maturation.
pubmed:affiliation
Departments of Cell Biology and Neurobiology, University of Alabama at Birmingham, Alabama 35294-0005, USA.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Research Support, Non-U.S. Gov't