| SUMF1 overexpression promotes tumorous cell growth and migration and is correlated with the immune status of patients with glioma. | SUMF1 overexpression promotes tumorous cell growth and migration and is correlated with the immune status of patients with glioma.
Zhang P, Liu Z, Wang YY, Luo HJ, Yang CZ, Shen H, Wu HT, Li JH, Zhao HX, Ran QS., Free PMC Article | 03/22/2024 |
| Association between SUMF1 polymorphisms and COVID-19 severity. | Association between SUMF1 polymorphisms and COVID-19 severity.
Liang S, Gao H, He T, Li L, Zhang X, Zhao L, Chen J, Xie Y, Bao J, Gao Y, Dai E, Wang Y., Free PMC Article | 06/23/2023 |
| Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra-rare disease. | Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra-rare disease.
Adang LA, Schlotawa L, Groeschel S, Kehrer C, Harzer K, Staretz-Chacham O, Silva TO, Schwartz IVD, Gärtner J, De Castro M, Costin C, Montgomery EF, Dierks T, Radhakrishnan K, Ahrens-Nicklas RC., Free PMC Article | 10/9/2021 |
| A systematic review and meta-analysis of published cases reveals the natural disease history in multiple sulfatase deficiency. | A systematic review and meta-analysis of published cases reveals the natural disease history in multiple sulfatase deficiency.
Schlotawa L, Preiskorn J, Ahrens-Nicklas R, Schiller S, Adang LA, Gärtner J, Friede T. | 10/9/2021 |
| A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency. | A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency.
Staretz-Chacham O, Schlotawa L, Wormser O, Golan-Tripto I, Birk OS, Ferreira CR, Dierks T, Radhakrishnan K., Free PMC Article | 05/22/2021 |
| Multiple Sulfatase Deficiency: A Disease Comprising Mucopolysaccharidosis, Sphingolipidosis, and More Caused by a Defect in Posttranslational Modification. | Multiple Sulfatase Deficiency: A Disease Comprising Mucopolysaccharidosis, Sphingolipidosis, and More Caused by a Defect in Posttranslational Modification.
Schlotawa L, Adang LA, Radhakrishnan K, Ahrens-Nicklas RC., Free PMC Article | 02/13/2021 |
| protein disulfide isomerase (PDI) plays a pivotal role in the recognition and quality control of Multiple sulfatase deficiency-causing FGE variants. | Recognition and ER Quality Control of Misfolded Formylglycine-Generating Enzyme by Protein Disulfide Isomerase.
Schlotawa L, Wachs M, Bernhard O, Mayer FJ, Dierks T, Schmidt B, Radhakrishnan K. | 12/14/2019 |
| Multiple sulfatase deficiency is an autosomal recessive lysosomal storage disorder due to a deficiency in formylglycine-generating enzyme, which is encoded by the Sulfatase Modifying Factor 1 ( SUMF1) gene. | Multiple Sulfatase Deficiency: A Case Series With a Novel Mutation.
Hijazi L, Kashgari A, Alfadhel M. | 10/5/2019 |
| Herein, in this report, it was aimed to depict two rare cases from two different families with similar gene mutations and clinical presentation, neuro-imaging, and laboratory result of MSD in Iran. | The report of two cases with multiple sulfatase deficiency resulting from a rare similar gene mutation.
Ashrafzadeh F, Zabolinejad N, Ghayoor Karimiani E, Beiraghi Toosi M, Doniadideh N, Torabi S, Razmyar M, Sheikh Andalibi MS. | 01/26/2019 |
| 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. | Sulfatase modifying factor 1 (SUMF1) is associated with Chronic Obstructive Pulmonary Disease.
Weidner J, Jarenbäck L, de Jong K, Vonk JM, van den Berge M, Brandsma CA, Boezen HM, Sin D, Bossé Y, Nickle D, Ankerst J, Bjermer L, Postma DS, Faiz A, Tufvesson E., Free PMC Article | 03/3/2018 |
| SUMF1 catalyses a monooxygenase type of reaction. | Eukaryotic formylglycine-generating enzyme catalyses a monooxygenase type of reaction.
Peng J, Alam S, Radhakrishnan K, Mariappan M, Rudolph MG, May C, Dierks T, von Figura K, Schmidt B. | 02/27/2016 |
| 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. | Natural disease history and characterisation of SUMF1 molecular defects in ten unrelated patients with multiple sulfatase deficiency.
Sabourdy F, Mourey L, Le Trionnaire E, Bednarek N, Caillaud C, Chaix Y, Delrue MA, Dusser A, Froissart R, Garnotel R, Guffon N, Megarbane A, Ogier de Baulny H, Pédespan JM, Pichard S, Valayannopoulos V, Verloes A, Levade T., Free PMC Article | 01/23/2016 |
| 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 | Multiple sulfatase deficiency with neonatal manifestation.
Garavelli L, Santoro L, Iori A, Gargano G, Braibanti S, Pedori S, Melli N, Frattini D, Zampini L, Galeazzi T, Padella L, Pepe S, Wischmeijer A, Rosato S, Ivanovski I, Iughetti L, Gelmini C, Bernasconi S, Superti-Furga A, Ballabio A, Gabrielli O., Free PMC Article | 01/16/2016 |
| 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. | Reconstitution of Formylglycine-generating Enzyme with Copper(II) for Aldehyde Tag Conversion.
Holder PG, Jones LC, Drake PM, Barfield RM, Bañas S, de Hart GW, Baker J, Rabuka D., Free PMC Article | 08/29/2015 |
| A novel missense mutation & an insertional truncating mutation in SUMF1 gene causing nultiple sulphatase deficiency. | Molecular evaluation of a novel missense mutation & an insertional truncating mutation in SUMF1 gene.
Kotecha UH, Movva S, Sharma D, Verma J, Puri RD, Verma IC., Free PMC Article | 04/11/2015 |
| 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 | Proprotein convertases process and thereby inactivate formylglycine-generating enzyme.
Ennemann EC, Radhakrishnan K, Mariappan M, Wachs M, Pringle TH, Schmidt B, Dierks T., Free PMC Article | 04/27/2013 |
| Phenotypic outcome in Multiple Sulfatase Deficiency depends on both residual FGE activity as well as protein stability. | SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency.
Schlotawa L, Ennemann EC, Radhakrishnan K, Schmidt B, Chakrapani A, Christen HJ, Moser H, Steinmann B, Dierks T, Gärtner J., Free PMC Article | 06/4/2011 |
| 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. | Genetic variation influences glutamate concentrations in brains of patients with multiple sclerosis.
Baranzini SE, Srinivasan R, Khankhanian P, Okuda DT, Nelson SJ, Matthews PM, Hauser SL, Oksenberg JR, Pelletier D, Baranzini SE, Srinivasan R, Khankhanian P, Okuda DT, Nelson SJ, Matthews PM, Hauser SL, Oksenberg JR, Pelletier D., Free PMC Articles: PMC2929334, PMC2929334 | 09/27/2010 |
| Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) | Genetic variation influences glutamate concentrations in brains of patients with multiple sclerosis.
Baranzini SE, Srinivasan R, Khankhanian P, Okuda DT, Nelson SJ, Matthews PM, Hauser SL, Oksenberg JR, Pelletier D, Baranzini SE, Srinivasan R, Khankhanian P, Okuda DT, Nelson SJ, Matthews PM, Hauser SL, Oksenberg JR, Pelletier D., Free PMC Articles: PMC2929334, PMC2929334 | 09/15/2010 |
| 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. | Total deletion and a missense mutation of ITPR1 in Japanese SCA15 families.
Hara K, Shiga A, Nozaki H, Mitsui J, Takahashi Y, Ishiguro H, Yomono H, Kurisaki H, Goto J, Ikeuchi T, Tsuji S, Nishizawa M, Onodera O. | 01/21/2010 |
| 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. | Multistep, sequential control of the trafficking and function of the multiple sulfatase deficiency gene product, SUMF1 by PDI, ERGIC-53 and ERp44.
Fraldi A, Zito E, Annunziata F, Lombardi A, Cozzolino M, Monti M, Spampanato C, Ballabio A, Pucci P, Sitia R, Cosma MP. | 01/21/2010 |
| 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. | Multiple sulfatase deficiency in a Turkish family resulting from a novel mutation.
Yiş U, Pepe S, Kurul SH, Ballabio A, Cosma MP, Dirik E. | 01/21/2010 |
| the non-catalytic N-terminal extension of formylglycine-generating enzyme is required for its biological activity and retention in the endoplasmic reticulum | The non-catalytic N-terminal extension of formylglycine-generating enzyme is required for its biological activity and retention in the endoplasmic reticulum.
Mariappan M, Gande SL, Radhakrishnan K, Schmidt B, Dierks T, von Figura K. | 01/21/2010 |
| ERp44-mediated retention of FGE, indicating that noncovalent interactions between ERp44 and FGE are sufficient to mediate ER retention. | ERp44 mediates a thiol-independent retention of formylglycine-generating enzyme in the endoplasmic reticulum.
Mariappan M, Radhakrishnan K, Dierks T, Schmidt B, von Figura K. | 01/21/2010 |
| Molecular analysis of sulfatase modifying factor 1 mutations. | Molecular analysis of SUMF1 mutations: stability and residual activity of mutant formylglycine-generating enzyme determine disease severity in multiple sulfatase deficiency.
Schlotawa L, Steinfeld R, von Figura K, Dierks T, Gärtner J. | 01/21/2010 |