Results 11 to 20 of about 31,866 (306)

Multiple Sulfatase Deficiency

open access: yesPediatric Neurology Briefs, 1988
A 9-year-old girl with a phenotype similar to a mucopolysaccharidosis (MPS) and a clinical history characteristic of late infantile metachromatic leukodystrophy (MLD) is reported from the Department of Neurology, National Defense Medical Center, Taipei ...
J Gordon Millichap
doaj   +3 more sources

Identification and Signature Sequences of Bacterial Δ4,5Hexuronate-2-O-Sulfatases

open access: goldFrontiers in Microbiology, 2019
Glycosaminoglycan (GAG) sulfatases, which catalyze the hydrolysis of sulfate esters from GAGs, belong to a large and conserved sulfatase family. Bacterial GAG sulfatases are essential in the process of sulfur cycling and are useful for the structural ...
Shumin Wang   +4 more
doaj   +2 more sources

Multiple sulfatase deficiency

open access: yesAtlas of Inherited Metabolic Diseases, 2020
The neonatal type is the most severe form, with signs and symptoms appearing soon after birth. Affected individuals have deterioration of tissue in the nervous system (leukodystrophy), which can contribute to movement problems, seizures, developmental ...
Christian Staufner
semanticscholar   +2 more sources

Sulfatase‐mediated manipulation of the astrocyte‐Schwann cell interface [PDF]

open access: yesGlia, 2016
Schwann cell (SC) transplantation following spinal cord injury (SCI) may have therapeutic potential. Functional recovery is limited however, due to poor SC interactions with host astrocytes and the induction of astrogliosis.
P. O'Neill   +8 more
semanticscholar   +5 more sources

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

open access: yesCommunications 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   +9 more
doaj   +2 more sources

Estrogen Sulfotransferase and Sulfatase in Steroid Homeostasis, Metabolic Disease, and Cancer.

open access: yesSteroids, 2023
Sulfation and desulfation of steroids are opposing processes that regulate the activation, metabolism, excretion, and storage of steroids, which account for steroid homeostasis.
Jingyuan Wang   +3 more
semanticscholar   +1 more source

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

open access: yesPLoS 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   +4 more
doaj   +1 more source

Apolipoprotein F is reduced in humans with steatosis and controls plasma triglyceride‐rich lipoprotein metabolism

open access: yesHepatology, EarlyView., 2022
Hepatic APOF transcript levels correlate inversely with plasma TG and hepatic steatosis in humans. ApoF expression in mice promotes VLDL‐TG production and lipoprotein remnant clearance in mice. Abstract Background NAFLD affects nearly 25% of the global population. Cardiovascular disease (CVD) is the most common cause of death among patients with NAFLD,
Audrey Deprince   +30 more
wiley   +1 more source

Increasing productivity of arylsulfatase B-producing cell line by coexpression of formylglycine-generating enzyme

open access: yesБиопрепараты: Профилактика, диагностика, лечение, 2022
Mucopolysaccharidosis type VI (Maroteaux–Lamy syndrome) is an orphan genetic disease caused by deficiency of the lysosomal enzyme arylsulfatase B (ASB).
S. S. Timonova   +8 more
doaj   +1 more source

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