The COPII pathway and hematologic disease.

Blood
Rami KhoriatyDavid Ginsburg

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.

References

Oct 1, 1990·Proceedings of the National Academy of Sciences of the United States of America·M N FukudaK W Moremen
Nov 1, 1980·The Journal of Clinical Investigation·R A Marlar, J H Griffin
Nov 1, 1984·Thrombosis Research·J E Gardiner, J H Griffin
Nov 4, 1982·The New England Journal of Medicine·U SeligsohnE Zwang
Apr 1, 1982·British Journal of Haematology·A J BainesE R Huehns
Jun 1, 1993·Baillière's Clinical Haematology·M N Fukuda
Apr 8, 1998·British Journal of Haematology·F PeyvandiP M Mannucci
May 16, 1998·The Journal of Cell Biology·M AridorW E Balch
Nov 24, 1999·Nature Cell Biology·C AppenzellerH P Hauri
Sep 30, 2000·Haemophilia : the Official Journal of the World Federation of Hemophilia·S ShettyD Mohanty
Mar 10, 2001·Nature·J B BockR H Scheller
Jun 5, 2001·Nature Cell Biology·B AntonnyR Schekman
Sep 6, 2001·Proceedings of the National Academy of Sciences of the United States of America·G Z LederkremerT Kirchhausen
Mar 22, 2002·Molecular Biology of the Cell·Jacqueline Powers, Charles Barlowe
Sep 18, 2002·The Journal of Cell Biology·Frantisek SupekRandy Schekman
Nov 12, 2002·The EMBO Journal·Elizabeth MillerRandy Schekman
Apr 30, 2003·Nature Genetics·Bin ZhangDavid Ginsburg
Jun 24, 2003·Genome Research·Alexander KanapinUNKNOWN GSL Members
Aug 28, 2003·Cell·Elena MossessovaJonathan Goldberg

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Citations

Apr 19, 2013·PloS One·Andrea C BainesDavid Ginsburg
Dec 18, 2013·The International Journal of Biochemistry & Cell Biology·Gokhan UnluEla W Knapik
Mar 5, 2014·Proceedings of the National Academy of Sciences of the United States of America·Novalia PisheshaHarvey F Lodish
Dec 18, 2013·Proceedings of the National Academy of Sciences of the United States of America·Daniel MauvoisinFelix Naef
Nov 12, 2014·Biochemistry. Biokhimii︠a︡·E S Nadezhdina
May 8, 2015·BMJ Open·Miklos D KertaiUNKNOWN Duke Perioperative Genetics and Safety Outcomes (PEGASUS) Investigative Team
Jun 30, 2016·The Journal of Cell Biology·Joanne BrunoTimothy E McGraw
May 26, 2017·Molecular Biology of the Cell·Rami KhoriatyJohn A Williams
Jul 30, 2014·Molecular and Cellular Biology·Rami KhoriatyDavid Ginsburg
Nov 23, 2018·Journal of Medical Genetics·Daniel HalperinOhad S Birk
Aug 2, 2018·Proceedings of the National Academy of Sciences of the United States of America·Rami KhoriatyDavid Ginsburg
Oct 28, 2017·Scientific Reports·Gloria BarbaraniMarianna Caterino
Jan 20, 2021·The Journal of Clinical Investigation·Stephanie KimPavan Reddy
Nov 17, 2020·Blood Advances·Lesley A EverettDavid Ginsburg
Jan 30, 2021·Frontiers in Cell and Developmental Biology·Brittany J BisnettMichael Boyce
May 1, 2021·Biomedicines·Nina Horn, Pernilla Wittung-Stafshede
Jun 10, 2021·Development·Sevinç GücümJoachim Wittbrodt
Nov 22, 2017·Biochemistry·Nathan J CoxMichael Boyce

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