Recombinant Human Sulfatase-modifying factor 1 (SUMF1)

1. We show that SUMF1 expression is affected in COPD patients compared to controls, and that SNPs in SUMF1 are associated with an increased risk of COPD. Certain COPD-associated SNPs have effects on either SUMF1 gene expression or on lung function. Collectively, this study shows that SUMF1 is associated with an increased risk of developing COPD. PMID: 28464818
2. SUMF1 catalyses a monooxygenase type of reaction. PMID: 26077311
3. This detailed clinical description and follow-up of a cohort of patients, together with the molecular characterisation of their underlying defects, contribute to improved knowledge of multiple sulfatase deficiency. PMID: 25885655
4. MSD presenting in the newborn period with hypotonia, apnoea, cyanosis and rolling eyes, hepato-splenomegaly and deafness. This patient was compound heterozygous for two so far undescribed SUMF1 mutations (c.191C > A; p.S64X and c.818A > G; p.D273G PMID: 25516103
5. The complete kinetic parameters for both forms of FGE are described, along with a proposed mechanism for FGE catalysis that accounts for the copper-dependent activity. PMID: 25931126
6. A novel missense mutation & an insertional truncating mutation in SUMF1 gene causing nultiple sulphatase deficiency. PMID: 25222778
7. furin-mediated processing of FGE during secretion is a physiological means of higher eukaryotic cells to regulate FGE activity upon exit from the endoplasmic reticulum PMID: 23288839
8. Phenotypic outcome in Multiple Sulfatase Deficiency depends on both residual FGE activity as well as protein stability. PMID: 21224894
9. This study identified genetic variation of SUMF1 in genes associated with in vivo glutamate measured using 1H magnetic resonance spectroscopic imaging in the grey matter of patients with multiple sclerosis. PMID: 20802204
10. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) PMID: 20802204
11. mutational analysis of SUMF1 in 20 Multiple sulfatase deficiency patients of different ethnic origin PMID: 15146462
12. characterization of the human Calpha-formylglycine-generating enzyme PMID: 15657036
13. FGE is a single-domain monomer with a surprising paucity of secondary structure and adopts a unique fold. The effect of all 18 missense mutations found in MSD patients is explained by the FGE structure, providing a molecular basis of MSD. PMID: 15907468
14. Sulphatase-modifying factor 1 interacts with SUMF2 to regulate sulphatase activities PMID: 15962010
15. co-delivery of SUMF1 may enhance the efficacy of gene therapy in several sulfatase deficiencies PMID: 17206939
16. study demonstrates that upon secretion, SUMF1 can be taken up from the medium by several cell lines; following its uptake, SUMF1 shuttles from the plasma membrane to the endoplasmic reticulum PMID: 17446859
17. Complete loss of SUMF1 function is likely to be lethal in humans. PMID: 17657823
18. Our data provide evidence that haploinsufficiency of ITPR1 alone, but not SUMF1, causes SCA16 and SCA15. PMID: 17932120
19. Molecular analysis of sulfatase modifying factor 1 mutations. PMID: 18157819
20. ERp44-mediated retention of FGE, indicating that noncovalent interactions between ERp44 and FGE are sufficient to mediate ER retention. PMID: 18178549
21. the non-catalytic N-terminal extension of formylglycine-generating enzyme is required for its biological activity and retention in the endoplasmic reticulum PMID: 18305113
22. Study shows that SUMF1 interacts with protein disulfide isomerase (PDI) and ERp44, two thioredoxin family members residing in the early secretory pathway, and with ERGIC-53, a lectin that shuttles between the ER and the Golgi. PMID: 18508857
23. This study present clinical findings of two consanguineous patients with multiple sulfatase deficiency. They were found to be homozygous for a novel missense mutation c.739G > C causing a p.G247R amino acid substitution in the SUMF1 protein. PMID: 18509892
24. We have identified a 414-kb deletion including the entire ITPR1 and exon 1 of SUMF1 in patients in a Japanese family with Spinocerebellar ataxia type 15. PMID: 18579805

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HGNC: 20376

OMIM: 272200

KEGG: hsa:285362

STRING: 9606.ENSP00000272902

UniGene: Hs.350475