Linked Life Data

15149492

Source:http://linkedlifedata.com/resource/pubmed/id/15149492

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
2004-5-19
pubmed:abstractText
Darier's disease and Hailey-Hailey disease are autosomal dominantly inherited skin disorders in which desmosomal adhesion between keratinocytes is abnormal. ATP2A2 and ATP2C1 have been identified as the causative genes for Darier's disease and Hailey-Hailey disease, respectively. ATP2A2 encodes the sarco(endo)plasmic reticulum Ca(2+)-ATPase isoform 2 (SERCA2) pump, while ATP2C1 encodes a secretory pathway Ca(2+)/Mn(2+)-ATPase (SPCA1) found in the Golgi apparatus. We review recent work into the function of these pumps in human keratinocytes and discuss how mutations in these genes might cause these diseases by altering the formation or stability of desmosomes.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
0007-0963
pubmed:author
pubmed:issnType
Print
pubmed:volume
150
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
821-8
pubmed:dateRevised
2010-11-18
pubmed:meshHeading
pubmed:year
2004
pubmed:articleTitle
Calcium pumps and keratinocytes: lessons from Darier's disease and Hailey-Hailey disease.
pubmed:affiliation
INSERM U563, Purpan Hospital, Place du Dr Baylac, 31059 Toulouse cedex 03, France.
pubmed:publicationType
Journal Article, Review