Results 101 to 110 of about 60,786 (163)

Studies on Cerebroside Sulfate Sulfatase in Multiple Sulfatase Deficiency Cultured Skin Fibroblasts

, 1985
The measurement of cerebroside sulfate （CS） sulfatase both in vitro and in vivo after uptake of 14C-CS were performed at different conditions in Metachromatic leukodystrophy （MLD） and Multiple sulfatase deficiency （MSD） cultured skin fibroblasts.
星井, 桜子
core   +2 more sources

Repurposing Tazarotene for Multiple Sulfatase Deficiency: A Path TowardClinical Application

Repurposing Tazarotene for Multiple Sulfatase Deficiency: A Path TowardClinical Application
I. Borgmann, Thomas Asendorf, Stephanie Dauth, Martin de Kort, R. Dreu, A. Finglas, T. Garfias-Veitl, Nadina Grosios, R. Gurke, C. Jonetzko, A. Kannt, Evelyn Hewitt, Donald Lo, Tanja Roßmanith, Alicia Soler, Sabrina Zierof, L. Schlotawa   +16 more
semanticscholar   +1 more source

Multiple Sulfatase Deficiency: A Clinical Report with Neonatal Presentation

Acta Scientific Paediatrics, 2022
Srushti Gandhi, Snehal Mallakmir, R. Merchant   +2 more
semanticscholar   +1 more source

Multiple sulfatase deficiency is caused by mutations in the gene encoding the human Cα-Formylglycine generating enzyme

, 2003
Cα-formylglycine (FGly) is the catalytic residue in the active site of eukaryotic sulfatases. It is posttranslationally generated from a cysteine in the endoplasmic reticulum. The genetic defect of FGly formation causes multiple sulfatase deficiency (MSD)
Dierks, Thomas, Peng, Jianhe, Preusser, Andrea, Mariappan, Malaiyalam, Figura, Kurt von, Schmidt, Bernhard, Borissenko, Ljudmila V.   +6 more
core  

Evaluation of the effectiveness of hematopoietic stem cell transplantation in multiple sulfatase deficiency

Molecular Genetics and Metabolism, 2021
Nishitha R. Pillai, P. Orchard, R. Ahrens-Nicklas, L. Adang, S. Elsea, C. Whitley   +5 more
semanticscholar   +1 more source

Multiple Sulfatase Deficiency Disease [PDF]

, 2020
openaire   +1 more source

Lead optimisation of small molecule sulfatase reactivators for multiple sulfatase deficiency

Sulfatases are enzymes essential for the degradation of sulfate esters. Formylglycine (FGly) is fundamental for their catalytic activity and is generated from a cysteine precursor by the FGly-generating enzyme (FGE).
Ezzaidi, Niama
core  

A systematic cross-sectional survey of multiple sulfatase deficiency

Molecular Genetics and Metabolism, 2020
Multiple Sulfatase Deficiency (MSD) is an inborn error of metabolism caused by pathogenic variants in the SUMF1 gene encoding the formylglycine-generating enzyme (FGE) that activates all known sulfatases. FGE deficiency results in widespread tissue accumulation of multiple sulphated substrates.
Gerarda Cappuccio, Nicola Brunetti-Pierri   +1 more
exaly   +6 more sources

New mouse models with hypomorphic SUMF1 variants mimic attenuated forms of Multiple Sulfatase Deficiency

Journal of Inherited Metabolic Disease, 2022
Multiple sulfatase deficiency (MSD) is an ultrarare lysosomal storage disorder due to deficiency of all known sulfatases. MSD is caused by mutations in the Sulfatase Modifying Factor 1 (SUMF1) gene encoding the enzyme responsible for the post ...
N. Sorrentino, Maximiliano Presa, S. Attanasio, Vincenzo Cacace, M. Sofia, A. Zuberi, Jennifer Ryan, Somdattaa Ray, I. Petkovic, Karthikeyan Radhakrishnan, L. Schlotawa, A. Ballabio, C. Lutz, N. Brunetti‐Pierri   +13 more
semanticscholar   +2 more sources

Neonatal manifestation of multiple sulfatase deficiency

European Journal of Pediatrics, 2008
Multiple sulfatase deficiency is biochemically characterized by the accumulation of sulfated lipids and acid mucopolysaccharides.We report clinical, biochemical, and molecular findings in a female newborn affected with a severe form of multiple sulfatase deficiency (Mendelian Inheritance in Man (MIM) # 272200).
Busche, Andreas, Hennermann, Julia B., Buerger, Friederike, Proquitte, Hans, Dierks, Thomas, von Arnim-Baas, Annabel, Horn, Denise   +6 more
openaire   +3 more sources