Results 101 to 110 of about 6,304 (164)

Retinal Function Deficits in American Staffordshire Terriers with a Late-Onset Neurodegenerative Disease Associated with an <i>ARSG</i> Variant. [PDF]

Vet Sci
Kick GR, Marzano SL, Ota-Kuroki J, Bullock G, Katz ML.   +4 more
europepmc   +1 more source

Different Land Use Systems in the Brazilian Cerrado and Their Effects on Soil Bacterial Communities. [PDF]

Microorganisms
Reis JBAD, Oliveira TMR, Sartori da Silva MRS, Lopes FAC, de Paula AM, Pontes NC, Vale HMMD.   +6 more
europepmc   +1 more source

Metachromatic Leukodystrophy in Morocco: Identification of Causative Variants by Next-Generation Sequencing (NGS). [PDF]

Genes (Basel)
Hammoud M, Domínguez-Ruiz M, Assiri I, Rodrigues D, Aboussair N, Lanza VF, Villarrubia J, Colón C, Fdil N, Del Castillo FJ.   +9 more
europepmc   +1 more source

Advances in Analytical Methods for the Extraction and Quantification of Benzophenones in Breast Milk and Infant Formula: A Scoping Review and Bibliometric Analysis. [PDF]

Foods
Galindo MV, Amorim DS, Amorim IS, Teixeira Filho J, Oliveira WDS, Godoy HT.   +5 more
europepmc   +1 more source

Hand stiffness not only a rheumatological sign: A case of early onset mucolipidosis III-gamma with literature review. [PDF]

Mol Genet Metab Rep
La Rosa A, Pepe A, Tappino B, Corsolini F, Chiaro A, Madeo A.   +5 more
europepmc   +1 more source

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Characterization of an arylsulfatase from a mutant library of Pseudoalteromonas carrageenovora arylsulfatase

International Journal of Biological Macromolecules, 2017
A library of Pseudoalteromonas carrageenovora arylsulfatase mutants was constructed by introducing random mutagenesis using error-prone PCR. After screening, one mutant strain was obtained whose arylsulfatase had improved thermal stability. Protein sequence analysis revealed one amino acid substitution of H260L.
, Z Jiang, Anfeng Xiao
exaly   +3 more sources

Arylsulfatase A in pseudodeficiency

Human Genetics, 1984
Arylsulfatase A (ASA) is found to be deficient in healthy individuals (pseudo arylsulfatase A deficiency) who usually show in vitro ASA levels in the range of metachromatic leukodystrophy patients. The in vitro properties of ASA in pseudodeficiency were studied in cultured fibroblasts.
B, Herz, G, Bach
openaire   +2 more sources

Deficient glycosylation of arylsulfatase A in pseudo arylsulfatase-A deficiency

Molecular and Cellular Biochemistry, 1990
Deficient arylsulfatase-A activity is diagnostic of a neurodegenerative human lysosomal storage disease, metachromatic leukodystrophy. Paradoxically, similar enzyme deficiency also occurs in normal individuals, who are known as being pseudo arylsulfatase-A deficient. We showed previously that this phenotype is associated with a structural gene mutation
M, Ameen, D A, Lazzarino, B M, Kelly, C A, Gabel, P L, Chang   +4 more
openaire   +2 more sources

Arylsulfatase A pseudodeficiency in Chinese

Human Genetics, 1996
Arylsulfatase A (ASA) pseudodeficiency was found to be much rarer in Taiwan than in most western countries (2.5% versus 7.3%-20% carrier rate). The linkage of two mutations (A2725G and A1788G) in the pseudodeficiency allele was preserved in Chinese, and A2725G did not occur alone.
W L, Hwu, L P, Tsai, W C, Wang, S C, Chuang, P J, Wang, T R, Wang   +5 more
openaire   +2 more sources

A Km mutant of arylsulfatase A

Clinica Chimica Acta, 1982
Abstract The apparent Michealis constant for p-nitrocatechol sulfate of arylsulfatase A of fibroblasts of a metachromatic leukodystrophy patient has been determined and compared to that of normal controls. Control cells gave an apparent Km of 0.7 mmol/l, while the apparent Km of patient's cells was determined to be 19.8 mmol/l.
A M, Harben, N, Krawiecki, R, Marcus, F A, Hommes   +3 more
openaire   +2 more sources