SUMF1 antibody
- Known as:
- SUMF1 (anti-)
- Catalog number:
- orb40671
- Product Quantity:
- EUR
- Category:
- -
- Supplier:
- Biorbyt biorb
- Gene target:
- SUMF1 antibody
Related genes to: SUMF1 antibody
- Gene:
- SUMF1 NIH gene
- Name:
- sulfatase modifying factor 1
- Previous symbol:
- -
- Synonyms:
- FGE, UNQ3037
- Chromosome:
- 3p26.1
- Locus Type:
- gene with protein product
- Date approved:
- 2004-04-30
- Date modifiied:
- 2014-11-18
Related products to: SUMF1 antibody
Related articles to: SUMF1 antibody
- The formylglycine-generating enzyme (FGE) post-translationally modifies the active site of all human sulfatases. Mutations in the SUMF1 gene encoding FGE may lead to catalytically inactive FGE or destabilize the protein. The resulting lack of sulfatase modification causes the rare disease multiple sulfatase deficiency (MSD). Previously, FGE required elastase treatment for crystallization and the structures lacked copper, although FGE is a copper-dependent enzyme. Here, we show that highly active human FGE purified from insect cells natively contains one copper ion and we report six new crystal structures revealing previously unobserved features. Several structures contain the catalytic copper ion coordinated almost linearly by the two catalytic cysteines. A structure of the MSD-causing E130D variant shows distortions in coordination of a structural Ca explaining its lower stability. As part of exploratory ligand-soaking experiments, a structure of FGE soaked with N-acetyl cysteine methyl ester shows the binding of a small molecule to a site other than the active site highlighting a potential binding site to be explored in the development of pharmacological chaperones for FGE. Crystallization of FGE without elastase treatment resulted in a structure in which the previously missing loop is well defined in the electron density and partly covers the active site, indicating that it needs to adopt a different conformation for substrate binding. This assumption is supported by a second structure in which the loop faces away from the active site and leaves the substrate binding groove open and by the occasional occurrence of crystals in which the loop becomes disordered. - Source: PubMed
Publication date: 2026/08/11
Kowal Julia LAlam SarfarazRadhakrishnan KarthikeyanDickmanns AchimNeumann PiotrSchlotawa LarsFicner RalfDierks ThomasRudolph Markus GNiemann Hartmut H - Gene therapy for neurological disorders is a rapidly evolving field with many preclinical studies and some successful clinical trials. Selectivity of cell specific targeting, efficiency and safety of administration route, and vector dosing are some of the most challenging aspects that need to be addressed for a successful treatment approach. In clinical practice, intravenous delivery is the most commonly used route of administration of viral vectors but adverse events led to the development of intrathecal delivery as a safer delivery method. Preclinical studies confirm the efficacy of intrathecally injected viral vectors for targeting both the central and peripheral nervous system at lower doses than those systemically-administered, limiting toxicity. Clinical applications of intrathecal gene therapy confirm efficacy and safety in patients. Further preclinical studies are needed to improve current vector capsid and payload technologies, while insights from ongoing clinical trials help to optimise patient selection and immunosuppressive protocols. - Source: PubMed
Publication date: 2026/05/14
Kagiava AlexiaChen XinFinkel Richard SGray Steven JKleopa Kleopas A - The biogenesis of secretory proteins proceeds under sequential quality control checkpoints operating along the exocytic pathway. Unlike other chaperones that reside primarily in the endoplasmic reticulum, ERp44 cycles through the Golgi to control the assembly of polymeric proteins and the localization of a few endoplasmic reticulum resident enzymes (ERAP1, Prx4, Ero1α, and SUMF1). To gain information about its pathophysiological role, we generated ERp44-deficient models. ERp44 KO mice are smaller than control siblings, and show skeletal malformations and delayed bone development, with reduced collagen deposition. Similar skeletal defects were also observed in ERp44 knocked down zebrafish embryos, supporting a conserved role for ERp44 in skeletal development. In cellular models, ERp44 downregulation dramatically affects collagen type 1 deposition, causing intracellular procollagen 1 accumulation. We thus conclude that the levels of ERp44 are crucial for efficient collagen deposition. - Source: PubMed
Publication date: 2026/04/16
Pannese MariaCanciani BarbaraCarnovali MartaDalla Torre MarcoGallucci GianpieroMangiavini LauraMariotti MassimoPanina-Bordignon PaolaVan't Hof RobSitia RobertoAnelli Tiziana - A patient with multiple sulfatase deficiency (MSD) was identified through a lysosomal storage disorder enzyme analysis panel, based on a characteristic pattern of reduced activities across multiple sulfatases. Newborn screening laboratories implement various quality control protocols to assess the integrity of received samples. The quality control policy for identifying heat-denatured samples evaluates several enzyme activity levels to determine if a sample has been compromised by excessive heat. A new quality control policy has been established to differentiate heat-denatured samples from those affected by Multiple Sulfatase Deficiency. - Source: PubMed
Publication date: 2026/01/06
Donti Taraka RDiPerna James CHegde Madhuri R - Oxidative stress (OS) plays a role in hypertension development, but the underlying genetic mechanisms are not completely understood. This study aimed to investigate the association between OS-related genes and hypertension by performing an integrative multi-omics analysis using summary-data-based Mendelian randomization (SMR) and colocalization approaches. - Source: PubMed
Publication date: 2026/03/25
Zhang YueMeng JinyangYan YuchengTang HongZhong DonglingLi YuxiXue PeiwenZhang AnrenJin RongjiangLi Juan