Results 11 to 20 of about 113,935,104 (175)
Optimisation of culture conditions for a producer clone coexpressing arylsulfatase B and a formylglycine-generating enzyme in order to increase the yield of arylsulfatase B [PDF]
Биопрепараты: Профилактика, диагностика, лечение, 2022 Maroteaux—Lamy syndrome (mucopolysaccharidosis type VI) is an orphan genetic disease caused by mutations in the arylsulfatase B gene (ARSB), which encodes the lysosomal enzyme arylsulfatase B (ASB).
S. S. Timonova +7 more
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Arylsulfatase A pseudodeficiency incidence in Turkey
The Turkish Journal of Pediatrics, 2000 Pseudodeficiency (Pd) in arylsulfatase A (ASA) is a relatively frequent condition in healthy individuals. It produces a reduction in enzyme activity similar to that found in metachromatic leukodystrophy (MLD). A variable incidence of the Pd allele
S Emre, M Topçu, M Terzioğlu, Y Renda
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Pseudo arylsulfatase A deficiency Biosynthesis of an abnormal arylsulfatase A [PDF]
, 1987 Pseudo arylsulfatase A deficiency, an asymptomatic condition, and metachromatic leukodystrophy, a severe neurodegenerative disease, are both associated with profound reductions of arylsulfatase A activity in man.
Chang, Patricia L. +3 more
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A closer look at ARSA activity in a patient with metachromatic leukodystrophy
Molecular Genetics and Metabolism Reports, 2019 Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease mainly caused by a deficiency of arylsulfatase A activity. The typical clinical course of patients with the late infantile form includes a regression in motor skills ...
Kathleen Doherty +6 more
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Arylsulfatase A pseudodeficiency in Mexico: Enzymatic activity and haplotype analysis
Molecular Genetics & Genomic Medicine, 2020 Background Metachromatic Leukodystrophy (MLD, OMIM 250100) is a neurodegenerative disease caused by mutations in the ARSA gene (OMIM 607574) that lead to deficiency in Arylsulfatase A (ASA).
Jesús A. Juárez‐Osuna +4 more
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Annals of Clinical and Translational Neurology, 2023 Objective Metachromatic leukodystrophy is a lysosomal storage disease caused by deficient arylsulfatase A. It is characterized by progressive demyelination and thus mainly affects the white matter.
Murtadha Al‐Saady +13 more
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Therapeutics and Clinical Risk Management, 2022 Jowita Biernawska,1 Katarzyna Kotfis,2 Jolanta Szymańska-Pasternak,3 Anna Bogacka,4 Joanna Bober3 1Department of Anesthesiology and Intensive Therapy, Pomeranian Medical University, Szczecin, Poland; 2Department of Anesthesiology, Intensive ...
Biernawska J +4 more
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Acta Scientiarum: Biological Sciences, 2023 Soil microbiota has a key role in the dynamics of natural and agro-ecosystems and is sensitive to changes in these environments. This study evaluated changes in the microbiological properties of soils under an organic production system of banana ‘BRS ...
Luana Silva Cerqueira +3 more
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Cysteine Thioaldehydes: Photolytic Generation, Reactivity, and Biological Implications
Angewandte Chemie, EarlyView.Photolysis of cysteine phenacylsulfides bearing non‐conjugating electron‐withdrawing substituents leads to high conversions into cysteine thioaldehydes through a Norrish type‐II pathway. This methodology enabled the study of the aqueous reactivity of these important biosynthetic intermediates, which, depending on peptide sequence, pH and buffer ...
Ardra Karthika +9 more
wiley +2 more sources
Brain MRI and biological diagnosis in five Tunisians MLD patients
Diagnostic Pathology, 2012 Metachromatic leukodystrophy (MLD) is a recessive autosomal disease which is characterized by an accumulation of sulfatides in the central and peripheral nervous system. It is due to the enzyme deficiency of the sulfatide sulfatase i.e.
Barboura Ilhem +8 more
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