Results 1 to 10 of about 6,672 (134)
X-linked ARSL chondrodysplasia punctata: expanding the spectrum with a severe multisystem phenotype [PDF]
Case Reports in Perinatal MedicineX-linked chondrodysplasia punctata type 1 (CDPX1) is a rare skeletal dysplasia caused by pathogenic variants in ARSL (Arylsulfatase L), formerly known as ARSE (Arylsulfatase E), resulting in defective arylsulfatase E activity and abnormal cartilage ...
Rajkumar Jeffrey +4 more
doaj +2 more sources
Arylsulfatase A (ASA) in Parkinson’s Disease: From Pathogenesis to Biomarker Potential
Brain Sciences, 2020 Parkinson’s disease (PD), the second most common neurodegenerative disorder after Alzheimer’s disease, is a clinically heterogeneous disorder, with obscure etiology and no disease-modifying therapy to date.
Efthalia Angelopoulou +2 more
exaly +3 more sources
Structural insights into manganese-dependent arylsulfatase from Enterococcus faecium and its catalytic promiscuity [PDF]
mBioCatalytic promiscuity, wherein enzymes catalyze multiple distinct reactions by stabilizing various transition states, is well documented in the alkaline phosphatase superfamily.
Lulu Guo +9 more
doaj +2 more sources
Arylsulfatase K attenuates airway epithelial cell senescence in COPD by regulating parkin-mediated mitophagy [PDF]
Redox BiologyChronic obstructive pulmonary disease (COPD) is a heterogeneous lung condition characterized by irreversible airflow limitation, primarily due to cigarette smoke (CS) exposure.
Ruonan Yang +12 more
doaj +2 more sources
Adult metachromatic leukodystrophy: case report
Неврология, нейропсихиатрия, психосоматика, 2021 Metachromatic leukodystrophy (MLD) is a hereditary lysosomal storage disease inherited in an autosomal recessive pattern, which occurs across all age groups.
T. I. Prusova +3 more
doaj +1 more source
Soil enzyme activities after application of fungicide QuadrisR at increasing concentration rates
Plant, Soil and Environment, 2022 The study aimed to assess the effects of fungicide QuadrisR on activities of soil enzymes contributed to soil nutrient turnover. A batch laboratory experiment with QuadrisR-amended (0 mg/kg ds (dry soil) - 35.00 mg/kg ds) loamy sand soil was conducted ...
Silvena Boteva Boteva +5 more
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Arylsulfatase A pseudodeficiency in healthy Brazilian individuals
Brazilian Journal of Medical and Biological Research, 1999 Molecular alterations associated with arylsulfatase A pseudodeficiency (ASA-PD) were characterized by PCR and restriction endonuclease analysis in a sample of healthy individuals from Brazil. ASA activity was also assayed in all subjects. Two individuals
C.G. Pedron +3 more
doaj +1 more source
JIMD Reports, 2022 Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease caused by deficiency of arylsulfatase A (ARSA). Heterozygous carriers of disease‐causing variants and individuals harbouring pseudodeficiency alleles in the ARSA gene ...
Lucia Laugwitz +10 more
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Metachromatic leukodystrophy: A case report
Bangabandhu Sheikh Mujib Medical University Journal, 2016 Metachromatic leuk:odystrophy (MLD) is a rare neurometabolic disease caused by the deficiency of the enzyme arylsulfatase A .Deficiency of this enzyme results in intralysosomal storage ofsphingolipid , cerebroside 3-sulfates (sulfatides), which are ...
Gopen Kumar Kundu +2 more
doaj +1 more source
Infantile Metachromatic Leukodystrophy: Case Report
Case Reports in Clinical Practice, 2023 Metachromatic Leukodystrophy (MLD) is commonly characterized by the accumulation of sulfatide in various organs, including the central nervous system, leading to neurological and mental symptoms.
Salsabeel Hamad +4 more
doaj +1 more source