Results 11 to 20 of about 60,786 (163)

Drug screening identifies tazarotene and bexarotene as therapeutic agents in multiple sulfatase deficiency

EMBO Molecular Medicine, 2023
Multiple sulfatase deficiency (MSD, MIM #272200) results from pathogenic variants in the SUMF1 gene that impair proper function of the formylglycine‐generating enzyme (FGE).
Lars Schlotawa, Karolina Tyka, Matthias Kettwig, Rebecca C Ahrens‐Nicklas, Matthias Baud, Tea Berulava, Nicola Brunetti‐Pierri, Alyssa Gagne, Zackary M Herbst, Jean A Maguire, Jlenia Monfregola, Tonatiuh Pena, Karthikeyan Radhakrishnan, Sophie Schröder, Elisa A Waxman, Andrea Ballabio, Thomas Dierks, André Fischer, Deborah L French, Michael H Gelb, Jutta Gärtner   +20 more
doaj   +4 more sources

Multiple Sulfatase Deficiency (MSD): Review of the Literature and Case Reports of Two Siblings with Dental Caries and Trauma

Case Reports in Pediatrics, 2021
Multiple sulfatase deficiency (MSD) (MIM # 272200) is an extraordinarily rare inborn error of metabolism (IEM). The phenotypic spectrum is largely heterogeneous and attributed to the combined effects of deficiencies in the nine sulfatases currently known
Lorna Hirst, Gehan Abou-Ameira, Mari-Liis Uudelepp   +2 more
doaj   +3 more sources

A clinical case of physical therapy of a child with multiple sulfatase deficiency

Medičnì Perspektivi, 2021
The article deals with the problems of physical therapy in children with multiple sulfatase deficiency (MSD). The purpose of the study presented in the article was to substantiate the need to form a structured, personalized comprehensive rehabilitation ...
I.M. Grygus , O.B. Nagorna , N.E. Nesterchuk , A.O. Nogas , P.S. Podoliaka , T.V. Gamma   +5 more
doaj   +4 more sources

Biochemical signatures of disease severity in multiple sulfatase deficiency

Journal of Inherited Metabolic Disease, 2023
AbstractSulfatases catalyze essential cellular reactions, including degradation of glycosaminoglycans (GAGs). All sulfatases are post‐translationally activated by the formylglycine generating enzyme (FGE) which is deficient in multiple sulfatase deficiency (MSD), a neurodegenerative lysosomal storage disease.
Laura A. Adang, Samar Mowafy, Zackary M. Herbst, Zitao Zhou, Lars Schlotawa, Karthikeyan Radhakrishnan, Brenna Bentley, Vi Pham, Emily Yu, Nishitha R. Pillai, Paul J. Orchard, Mauricio De Castro, Adeline Vanderver, Marzia Pasquali, Michael H. Gelb, Rebecca C. Ahrens‐Nicklas   +15 more
semanticscholar   +7 more sources

Preclinical use of a clinically-relevant scAAV9/SUMF1 vector for the treatment of multiple sulfatase deficiency

Communications Medicine
Background Multiple Sulfatase Deficiency (MSD) is a rare inherited lysosomal storage disorder characterized by loss of function mutations in the SUMF1 gene that manifests as a severe pediatric neurological disease.
Maximiliano Presa, Rachel M. Bailey, Somdatta Ray, Lauren Bailey, Saurabh Tata, Tara Murphy, Pierre-Alexandre Piec, Harold Combs, Steven J. Gray, Cathleen Lutz   +9 more
doaj   +4 more sources

Multiple Sulfatase Deficiency: A Disease Comprising Mucopolysaccharidosis, Sphingolipidosis, and More Caused by a Defect in Posttranslational Modification

International Journal of Molecular Sciences, 2020
Multiple sulfatase deficiency (MSD, MIM #272200) is an ultra-rare disease comprising pathophysiology and clinical features of mucopolysaccharidosis, sphingolipidosis and other sulfatase deficiencies. MSD is caused by impaired posttranslational activation
Lars Schlotawa, Laura A Adang, Karthikeyan Radhakrishnan   +2 more
exaly   +4 more sources

Severe neonatal multiple sulfatase deficiency presenting with hydrops fetalis in a preterm birth patient

JIMD Reports, 2019
Multiple sulfatase deficiency (MSD) is an ultra‐rare lysosomal storage disorder (LSD). Mutations in the SUMF1 gene encoding the formylglycine generating enzyme (FGE) result in an unstable FGE protein with reduced enzymatic activity, thereby affecting the
Lars Schlotawa, Thomas Dierks, Sophie Christoph, Eva Cloppenburg, Andreas Ohlenbusch, G. Christoph Korenke, Jutta Gärtner   +6 more
doaj   +3 more sources

Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra‐rare disease

Journal of Inherited Metabolic Disease, 2020
Multiple sulfatase deficiency (MSD) is an ultra‐rare neurodegenerative disorder caused by pathogenic variants in SUMF1. This gene encodes formylglycine‐generating enzyme (FGE), a protein required for sulfatase activation.
Laura A Adang, Lars Schlotawa, Samuel Groeschel   +2 more
exaly   +3 more sources

The Multiple Sulfatase Deficiency Gene Encodes an Essential and Limiting Factor for the Activity of Sulfatases [PDF]

Cell, 2003
In multiple sulfatase deficiency (MSD), a human inherited disorder, the activities of all sulfatases are impaired due to a defect in posttranslational modification. Here we report the identification, by functional complementation using microcell-mediated chromosome transfer, of a gene that is mutated in MSD and is able to rescue the enzymatic ...
Maria Pia Cosma, Stefano Pepe, Robert F Newbold   +2 more
exaly   +9 more sources

The effect of intravenous trehalose administration in a patient with multiple sulfatase deficiency

Archives of Medical Science, 2023
Introduction We describe the case of a female child with multiple sulfatase deficiency (MSD) who received intravenous (IV) trehalose (15 g/week) for 3 months.
Shabnam Radbakhsh, Moein Mobini, Eric Gumpricht, Maciej Banach, Tannaz Jamialahmadi, Amirhossein Sahebkar   +5 more
doaj   +2 more sources