Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation

Willaert, A.; Malfait, F.; Symoens, S.; Gevaert, K.; Kayserili, H.; Megarbane, A.; Mortier, G.; Leroy, J.; Coucke, P.; De Paepe, A.

doi:10.1136/jmg.2008.062729

Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation

Willaert A., Malfait F., Symoens S., Gevaert K., Kayserili H., Megarbane A., ...Daha Fazla

JOURNAL OF MEDICAL GENETICS, cilt.46, sa.4, ss.233-241, 2009 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 46 Sayı: 4
Basım Tarihi: 2009
Doi Numarası: 10.1136/jmg.2008.062729
Dergi Adı: JOURNAL OF MEDICAL GENETICS
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.233-241
İstanbul Üniversitesi Adresli: Evet

Özet

Background: Recessive forms of osteogenesis imperfecta (OI) may be caused by mutations in LEPRE1, encoding prolyl 3-hydroxylase-1 (P3H1) or in CRTAP, encoding cartilage associated protein. These proteins constitute together with cyclophilin B (CyPB) the prolyl 3-hydroxylation complex that hydroxylates the Pro986 residue in both the type I and type II collagen alpha 1-chains.