Results 1 to 10 of about 23,262 (202)

Novel Point Mutations in the Steroid Sulfatase Gene in Patients with X-Linked Ichthyosis: Transfection Analysis Using the Mutated Genes [PDF]

, 2000
X-linked ichthyosis is caused by steroid sulfatase deficiency which results from abnormalities in its coding gene. The majority of X-linked ichthyosis patients (≈90%) have complete or partial deletions of the steroid sulfatase gene.
Iwatsuki, Keiji, Kaneko, Fumio, Oyama, Noritaka, Satoh, Masataka   +3 more
core   +3 more sources

Characterization of iodothyronine sulfatase activities in human and rat liver and placenta [PDF]

, 2002
In conditions associated with high serum iodothyronine sulfate concentrations, e.g. during fetal development, desulfation of these conjugates may be important in the regulation of thyroid hormone homeostasis. However, little is known
Coughtrie, M.W., Dijk, C.H. (Caren) van, Kaptein, E. (Ellen), Kester, M.H.A. (Monique), Roest, T.J. (Thirza), Tibboel, D. (Dick), Visser, T.J. (Theo)   +6 more
core   +5 more sources

X-linked ichthyosis associated with psychosis and behavioral abnormalities: a case report [PDF]

Journal of Medical Case Reports, 2017
Background X-linked ichthyosis is a dermatological condition caused by deficiency for the enzyme steroid sulfatase. Previously, X-linked ichthyosis/steroid sulfatase deficiency has been associated with developmental and neurological phenotypes.
Amna Malik, Ahmed Bait Amer, Mohammed Salama, Bander Haddad, Muhammad T. Alrifai, Mohammed Al Balwi, William Davies, Wafaa Eyaid   +7 more
doaj   +4 more sources

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

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   +2 more sources

Bone marrow transplantation increases sulfatase activity in somatic tissues in a multiple sulfatase deficiency mouse model [PDF]

Communications Medicine
Background Multiple Sulfatase Deficiency (MSD) is an ultra-rare autosomal recessive disorder characterized by deficient enzymatic activity of all known sulfatases. MSD patients frequently carry two loss of function mutations in the SUMF1 gene, encoding a
Maximiliano Presa, Vi Pham, Somdatta Ray, Pierre-Alexandre Piec, Jennifer Ryan, Timothy Billings, Harold Coombs, Lars Schlotawa, Troy Lund, Rebecca C. Ahrens-Nicklas, Cathleen Lutz   +10 more
doaj   +2 more sources

Cloning and Characterization of a Novel N-Acetyl-D-galactosamine-4-O-sulfate Sulfatase, SulA1, from a Marine Arthrobacter Strain [PDF]

Marine Drugs
Sulfation is gaining increased interest due to the role of sulfate in the bioactivity of many polysaccharides of marine origin. Hence, sulfatases, enzymes that control the degree of sulfation, are being more extensively researched.
Monica Daugbjerg Christensen, Leila Allahgholi, Javier A. Linares-Pastén, Ólafur Friðjónsson, Hörður Guðmundsson, Varsha Kale, Roya R. R. Sardari, Guðmundur Ó. Hreggviðsson, Eva Nordberg Karlsson   +8 more
doaj   +2 more sources

Sulfatases: Critical Enzymes for Algal Polysaccharide Processing

Frontiers in Plant Science, 2022
Microbial sulfatases are important biocatalysts in the marine environment where they play a key role in the catabolic biotransformation of abundant sulphated algal polysaccharides. The sulphate esters decorating algal polysaccharides, such as carrageenan,
Andrew G. Hettle, Chelsea J. Vickers, Alisdair B. Boraston   +2 more
doaj   +1 more source

Biodistribution of Idursulfase Formulated for Intrathecal Use (Idursulfase-IT) in Cynomolgus Monkeys after Intrathecal Lumbar Administration. [PDF]

PLoS ONE, 2016
Enzyme replacement therapy with intravenous idursulfase (recombinant iduronate-2-sulfatase) is approved for the treatment of Hunter syndrome. Intravenous administration does not, however, treat the neurological manifestations, due to its low central ...
Jou-Ku Chung, Eilish Brown, Bob Crooker, Kathleen J Palmieri, Thomas G McCauley   +4 more
doaj   +1 more source

Identification of a Sulfatase that Detoxifies Glucosinolates in the Phloem-Feeding Insect Bemisia tabaci and Prefers Indolic Glucosinolates

Frontiers in Plant Science, 2021
Cruciferous plants in the order Brassicales defend themselves from herbivory using glucosinolates: sulfur-containing pro-toxic metabolites that are activated by hydrolysis to form compounds, such as isothiocyanates, which are toxic to insects and other ...
Abinaya Manivannan, Bhawana Israni, Katrin Luck, Monika Götz, Elena Seibel, Michael L. A. E. Easson, Roy Kirsch, Michael Reichelt, Beate Stein, Stephan Winter, Jonathan Gershenzon, Daniel Giddings Vassão   +11 more
doaj   +1 more source

Between the Devil and the Deep Blue Sea—Resveratrol, Sulfotransferases and Sulfatases—A Long and Turbulent Journey from Intestinal Absorption to Target Cells

Molecules, 2023
For nearly 30 years, resveratrol has attracted the scientific community’s interest. This has happened thanks to the so-called French paradox, that is, the paradoxically low mortality from cardiovascular causes in the French population despite a diet rich
Izabela Szymkowiak, Malgorzata Kucinska, Marek Murias   +2 more
doaj   +1 more source