期刊
BLOOD
卷 120, 期 1, 页码 31-38出版社
AMER SOC HEMATOLOGY
DOI: 10.1182/blood-2012-01-292086
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资金
- National Institutes of Health [PO1 HL057346, RO1 HL039693]
Multiple diseases, hematologic and non-hematologic, result from defects in the early secretory pathway. Congenital dyserythropoietic anemia type II (CDAII) and combined deficiency of coagulation factors V and VIII (F5F8D) are the 2 known hematologic diseases that result from defects in the endoplasmic reticulum (ER)-to-Golgi transport system. CDAII is caused by mutations in the SEC23B gene, which encodes a core component of the coat protein complex II (COPII). F5F8D results from mutations in either LMAN1 (lectin mannose-binding protein 1) or MCFD2 (multiple coagulation factor deficiency protein 2), which encode the ER cargo receptor complex LMAN1-MCFD2. These diseases and their molecular pathogenesis are the focus of this review. (Blood. 2012;120(1):31-38)
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