| LMAN1-MCFD2 complex is a cargo receptor for the ER-Golgi transport of alpha1-antitrypsin. | LMAN1-MCFD2 complex is a cargo receptor for the ER-Golgi transport of α1-antitrypsin.
Zhang Y, Zhu M, Zheng C, Wei W, Emmer BT, Zhang B., Free PMC Article | 04/23/2022 |
| that Multiple coagulation factor deficiency protein 2 promotes cancer metastasis by regulating lectin mannose binding 1 and level of galactoside-binding soluble 3 binding protein expression levels | Multiple coagulation factor deficiency protein 2 as a crucial component in metastasis of human oral cancer.
Fukamachi M, Kasamatsu A, Endo-Sakamoto Y, Fushimi K, Kasama H, Iyoda M, Minakawa Y, Shiiba M, Tanzawa H, Uzawa K. | 04/6/2019 |
| Combined deficiency of factors V and VIII by chance coinheritance of parahaemophilia and haemophilia A, but not by mutations of either LMAN1 or MCFD2 | Combined deficiency of factors V and VIII by chance coinheritance of parahaemophilia and haemophilia A, but not by mutations of either LMAN1 or MCFD2, in a Japanese family.
Suzuki S, Nakamura Y, Suzuki N, Yamazaki T, Takagi Y, Tamura S, Takagi A, Kanematsu T, Matsushita T, Kojima T. | 09/15/2018 |
| A novel missense mutation, namely Asp81Ala in exon 3 of MCFD2 gene, is firstly reported and described as a cause of combined FV and FVIII deficiency in a Chinese family. | Combined FV and FVIII deficiency (F5F8D) in a Chinese family with a novel missense mutation in MCFD2 gene.
Wang A, Liu X, Wu J, Cai X, Zhu W, Sun Z. | 08/1/2015 |
| Studies indicate that the LMAN1-CRD contains distinct, separable binding sites for both its partner protein MCFD2 and the cargo proteins FV/FVIII. | Combined deficiency of coagulation factors V and VIII: an update.
Zheng C, Zhang B., Free PMC Article | 03/22/2014 |
| Results indicate the biological roles of MCFD2 in both vertebrates and invertebrates. | Multiple coagulation factor deficiency protein 2 contains the ability to support stem cell self-renewal.
Liu H, Zhao B, Chen Y, You D, Liu R, Rong M, Ji W, Zheng P, Lai R. | 12/21/2013 |
| Data indicate that together with its soluble coreceptor MCFD2, LMAN1 transports coagulation factors V (FV) and VIII (FVIII). | Structural characterization of carbohydrate binding by LMAN1 protein provides new insight into the endoplasmic reticulum export of factors V (FV) and VIII (FVIII).
Zheng C, Page RC, Das V, Nix JC, Wigren E, Misra S, Zhang B., Free PMC Article | 09/28/2013 |
| Mutations in MCFD2 lead to F5F8D (combined deficiency of factor V And factor VIII) due to alterations in MCFD2-LMAN1 complex of coat protein (COP)II complex trafficking machinery; 30% of F5F8D patients have mutations in MCFD2. [REVIEW] | Inherited hematological disorders due to defects in coat protein (COP)II complex.
Russo R, Esposito MR, Iolascon A. | 03/23/2013 |
| We present the identification of a novel MCFD2 gene missense mutation by direct sequencing. | Identification of a novel mutation in the MCFD2 gene in a Tunisian family with combined factor V and VIII deficiency.
Hejer E, Adnen LM, Asma J, Ibtihel M, Benammar-Elgaaied A, Gouider E. | 08/18/2012 |
| The study reports for the first time a case of Combined factor V and factor VIII deficiency disorder in a Tunisian family, resulting from two novel mutations in exon 3 of the MCFD2 gene. | Structural analysis of two novel mutations in MCFD2 gene causing combined coagulation factors V and VIII deficiency.
Abdallah HE, Gouider E, Stambouli N, Ben Amor M, Jlizi A, Belhedi N, Sassi R, Khodjetelkhil H, Meddeb B, Hafsia R, Hamza A, Elgaaied AB. | 04/19/2010 |
| Data present the crystal structure of the LMAN1/MCFD2 complex and relate it to patient mutations. Circular dichroism data show that the majority of the substitution mutations give rise to a disordered or severely destabilized MCFD2 protein. | Crystal structure of the LMAN1-CRD/MCFD2 transport receptor complex provides insight into combined deficiency of factor V and factor VIII.
Wigren E, Bourhis JM, Kursula I, Guy JE, Lindqvist Y. | 03/22/2010 |
| Data show that mutations in MCFD2 that disrupt the tertiary structure and abolish LMAN1 binding still retain the FV/FVIII binding activities, suggesting that this interaction is independent of Ca(2+)-induced folding of the protein. | EF-hand domains of MCFD2 mediate interactions with both LMAN1 and coagulation factor V or VIII.
Zheng C, Liu HH, Zhou J, Zhang B., Free PMC Article | 03/8/2010 |
| 2 related patients were homozygous for a new missense mutation in the 2d elongation factor hand domain. Tyr135Asn is the 3d missense mutation found in the MCFD2 gene. It may disrupt the MCFD2-LMAN1 interaction. | The first case of combined coagulation factor V and coagulation factor VIII deficiency in Poland due to a novel p.Tyr135Asn missense mutation in the MCFD2 gene.
Ivaskevicius V, Windyga J, Baran B, Bykowska K, Daugela L, Watzka M, Seifried E, Oldenburg J. | 01/21/2010 |
| These results provide an explanation for the previously observed calcium dependence of the MCFD2-ERGIC-53 interaction. | New insights into multiple coagulation factor deficiency from the solution structure of human MCFD2.
Guy JE, Wigren E, Svärd M, Härd T, Lindqvist Y. | 01/21/2010 |
| MCFD2 may play a primary role in the export of FV and FVIII from the ER, with the impact of LMAN1 mediated indirectly through its interaction with MCFD2 | Genotype-phenotype correlation in combined deficiency of factor V and factor VIII.
Zhang B, Spreafico M, Zheng C, Yang A, Platzer P, Callaghan MU, Avci Z, Ozbek N, Mahlangu J, Haw T, Kaufman RJ, Marchant K, Tuddenham EG, Seligsohn U, Peyvandi F, Ginsburg D, Zhang B, Spreafico M, Zheng C, Yang A, Platzer P, Callaghan MU, Avci Z, Ozbek N, Mahlangu J, Haw T, Kaufman RJ, Marchant K, Tuddenham EG, Seligsohn U, Peyvandi F, Ginsburg D., Free PMC Articles: PMC2424156, PMC2424156 | 01/21/2010 |
| The newly identified neuronal stem cell factor, MCFD2 (SDNSF), were expressed in seminoma cells and they were only present in gonocytes up to the second trimester. | Novel germ cell markers characterize testicular seminoma and fetal testis.
Gashaw I, Dushaj O, Behr R, Biermann K, Brehm R, Rübben H, Grobholz R, Schmid KW, Bergmann M, Winterhager E. | 01/21/2010 |
| Binding of ERGIC-53 to sugar is enhanced by its interaction with MCFD2, and defects in this interaction in factor V and VIII deeficient patients may be the cause for reduced secretion of factors V and VIII. | The sugar-binding ability of ERGIC-53 is enhanced by its interaction with MCFD2.
Kawasaki N, Ichikawa Y, Matsuo I, Totani K, Matsumoto N, Ito Y, Yamamoto K. | 01/21/2010 |
| phenotype & genotype analyses in 9 Indian patients with combined FV & FVIII deficiency; 2 MCFD2 gene mutations, c.149 + 5G > A splice defect & the p.E71fs accounted for >77% of patients screened; data suggest multiple hotspots of mutations in MCFD2 gene | Mutations in the MCFD2 gene are predominant among patients with hereditary combined FV and FVIII deficiency (F5F8D) in India.
Jayandharan G, Spreafico M, Viswabandya A, Chandy M, Srivastava A, Peyvandi F. | 01/21/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | Genotype-phenotype correlation in combined deficiency of factor V and factor VIII.
Zhang B, Spreafico M, Zheng C, Yang A, Platzer P, Callaghan MU, Avci Z, Ozbek N, Mahlangu J, Haw T, Kaufman RJ, Marchant K, Tuddenham EG, Seligsohn U, Peyvandi F, Ginsburg D, Zhang B, Spreafico M, Zheng C, Yang A, Platzer P, Callaghan MU, Avci Z, Ozbek N, Mahlangu J, Haw T, Kaufman RJ, Marchant K, Tuddenham EG, Seligsohn U, Peyvandi F, Ginsburg D., Free PMC Articles: PMC2424156, PMC2424156 | 04/23/2008 |
| ERGIC-53 and MCFD2 have important functions during cellular response to stress conditions | Heat shock induces preferential translation of ERGIC-53 and affects its recycling pathway.
Spatuzza C, Renna M, Faraonio R, Cardinali G, Martire G, Bonatti S, Remondelli P. | 01/21/2010 |
| LMAN1 and MCFD2 form a cargo receptor complex and the primary sorting signals residing in the B domain direct the binding of factor VIII | LMAN1 and MCFD2 form a cargo receptor complex and interact with coagulation factor VIII in the early secretory pathway.
Zhang B, Kaufman RJ, Ginsburg D. | 01/21/2010 |
| Mutations in (LMAN1) and (MCFD2), have been found to be responsible for the dual deficiency of FV and FVIII. | Mutations in the MCFD2 gene and a novel mutation in the LMAN1 gene in Indian families with combined deficiency of factor V and VIII.
Mohanty D, Ghosh K, Shetty S, Spreafico M, Garagiola I, Peyvandi F. | 01/21/2010 |
| Results indicate that ERGIC-53 can bind cargo glycoproteins in an MCFD2-independent fashion and suggest that MCFD2 is a recruitment factor for blood coagulation factors V and VIII. | Cargo selectivity of the ERGIC-53/MCFD2 transport receptor complex.
Nyfeler B, Zhang B, Ginsburg D, Kaufman RJ, Hauri HP. | 01/21/2010 |
| inactivating mutations in MCFD2 cause combined deficiency of factor V and factor VIII with a phenotype indistinguishable from that caused by mutations in LMAN1 | Bleeding due to disruption of a cargo-specific ER-to-Golgi transport complex.
Zhang B, Cunningham MA, Nichols WC, Bernat JA, Seligsohn U, Pipe SW, McVey JH, Schulte-Overberg U, de Bosch NB, Ruiz-Saez A, White GC, Tuddenham EG, Kaufman RJ, Ginsburg D. | 01/21/2010 |