Multiple Sulfatase Deficiency (MSD): Review of the Literature and Case Reports of Two Siblings with Dental Caries and Trauma [PDF]
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 +2 more
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ACS Sensors, 2019 In this study, on the basis of the biomineralization capability of urease, a facile, one-step, and green synthetic method has been proposed for the fabrication of gold nanoclusters (AuNCs).
Hao-Hua Deng, Shao-Bin He, Zhen Lin
exaly +2 more sources
Pediatric 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
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A single sulfatase is required to access colonic mucin by a gut bacterium
Nature, 2021 Ana S Luis +2 more
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Atlas 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
Identification and Signature Sequences of Bacterial Δ4,5Hexuronate-2-O-Sulfatases
Frontiers 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
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Preclinical use of a clinically-relevant scAAV9/SUMF1 vector for the treatment of multiple sulfatase deficiency [PDF]
Communications MedicineBackground 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
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Sulfatase‐mediated manipulation of the astrocyte‐Schwann cell interface [PDF]
Glia, 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
Bone marrow transplantation increases sulfatase activity in somatic tissues in a multiple sulfatase deficiency mouse model [PDF]
Communications MedicineBackground 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 +10 more
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Essential Roles of Heparan Sulfate Endosulfatase Sulf1 in Reward and Aversion Learning Through Distinct Dopamine D1 and D2 Receptor Pathways in Male Mice. [PDF]
J NeurochemIn the nucleus accumbens (NAc), a heparan sulfate endosulfatase Sulf1 is expressed in both dopamine D1 receptor (Drd1) expressing and Drd2‐expressing medium spiny neurons (D1‐MSNs and D2‐MSNs, respectively). Sulf1 knockout (KO) mice showed impairment in both the cocaine‐induced conditioned place preference (CPP) test and inhibitory avoidance (IA) test.
Miya K +8 more
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