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PMID: 22586181 Published · ppublish English Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Review

The COPII pathway and hematologic disease.

Blood ·Vol. 120 ·No. 1 ·2012-07-05 ·Pages 31-8

Khoriaty R, Vasievich MP, Ginsburg D

Abstract

Multiple diseases, hematologic and nonhematologic, 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.

MeSH Terms
Anemia, Dyserythropoietic, Congenital/genetics,metabolism,pathology COP-Coated Vesicles/metabolism,pathology Factor V Deficiency/genetics,metabolism,pathology Hemophilia A/genetics,metabolism,pathology Humans Mannose-Binding Lectins/genetics,metabolism Membrane Proteins/genetics,metabolism Vesicular Transport Proteins/genetics,metabolism
Chemicals
LMAN1 protein, human MCFD2 protein, human Mannose-Binding Lectins Membrane Proteins SEC23B protein, human Vesicular Transport Proteins
Authors & Affiliations
3 authors, click to expand affiliations / ORCID
Khoriaty Rami
Department of Hematology and Oncology, University of Michigan, Ann Arbor, MI, USA.
Vasievich Matthew P
Ginsburg David
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Article Info
Journal
Blood
Abbr.
Blood
ISSN
1528-0020
DOI
10.1182/blood-2012-01-292086
Published
2012-07-05
Epub
2012-00-14
Pages
31-8
Language
English
Region
United States
NLM ID
7603509
PMCID
PMC3390960
Subset
IM
Grants
NHLBI NIH HHS · P01 HL057346 · United States
NHLBI NIH HHS · R01 HL039693 · United States
Howard Hughes Medical Institute · United States
External Links
PubMed source DOI: 10.1182/blood-2012-01-292086 PMC Full Text View journal details
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