Ontology highlight
ABSTRACT:
INSTRUMENT(S): Illumina HiSeq 2000
ORGANISM(S): Mus musculus
SUBMITTER: Ugur Ayturk
PROVIDER: E-MTAB-8113 | biostudies-arrayexpress |
REPOSITORIES: biostudies-arrayexpress
Kedlaya Rajendra R Veera Shreya S Horan Daniel J DJ Moss Rachel E RE Ayturk Ugur M UM Jacobsen Christina M CM Bowen Margot E ME Paszty Chris C Warman Matthew L ML Robling Alexander G AG
Science translational medicine 20131101 211
Osteoporosis pseudoglioma syndrome (OPPG) is a rare genetic disease that produces debilitating effects in the skeleton. OPPG is caused by mutations in LRP5, a WNT co-receptor that mediates osteoblast activity. WNT signaling through LRP5, and also through the closely related receptor LRP6, is inhibited by the protein sclerostin (SOST). It is unclear whether OPPG patients might benefit from the anabolic action of sclerostin neutralization therapy (an approach currently being pursued in clinical tr ...[more]