Results 1 to 10 of about 342 (98)

Measurement of sulfatides in the amniotic fluid supernatant: A useful tool in the prenatal diagnosis of metachromatic leukodystrophy. [PDF]

JIMD Rep, 2022
Abstract Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal disorder caused by deficiency of arylsulfatase A (ARSA), leading to an accumulation of sulfatides. Sulfatides have been quantified in urine, dried blood spots (DBS), and tissues of patients with MLD.
Kubaski F, Herbst ZM, Burin MG, Michelin-Tirelli K, Trapp FB, Gus R, Netto ABO, Brusius-Facchin AC, Leistner-Segal S, Sanseverino MT, de Souza CMF, Wilke MVMB, Oliveira T, Magalhães JAA, Giugliani R.   +14 more
europepmc   +2 more sources

Exploration of phytoconstituents of Medhya Rasayana herbs to identify potential inhibitors for cerebroside sulfotransferase through high-throughput screening [PDF]

Frontiers in Molecular Biosciences
Cerebroside sulfotransferase (CST) is a key enzyme in sulfatide biosynthesis and regulation of the myelin sheath in the nervous system. To counter sulfatide accumulation with the deficiency of aryl sulfatase A, CST is considered a target protein in ...
Nivedita Singh, Anil Kumar Singh
doaj   +2 more sources

Identification of a missense ARSA mutation in metachromatic leukodystrophy and its potential pathogenic mechanism. [PDF]

Mol Genet Genomic Med, 2020
We identified an ARSA c.925G>A homozygous mutation from a Chinese late‐infantile MLD patient, the first report of this mutation in east Asia. Overexpression cell models of wild‐type and mutated ARSA genes were constructed to compare the biological changes caused by candidate pathogenic mutations.
Guo L, Jin B, Zhang Y, Wang J.
europepmc   +2 more sources

Analysis of carbohydrates and glycoconjugates by matrix‐assisted laser desorption/ionization mass spectrometry: An update for 2019–2020

Mass Spectrometry Reviews, Volume 42, Issue 5, Page 1984-2206, September/October 2023., 2023
Abstract This review is the tenth update of the original article published in 1999 on the application of matrix‐assisted laser desorption/ionization (MALDI) mass spectrometry to the analysis of carbohydrates and glycoconjugates and brings coverage of the literature to the end of 2020.
David J. Harvey
wiley   +1 more source

Protein-sphingolipid interactions and their role in immunity and disease [PDF]

, 2021
Sphingolipids are a diverse class of lipids involved in fundamental cellular processes. In addition to their role in membrane architecture, sphingolipids can act as bioactive molecules, regulate membrane protein function and be presented to the immune ...
Shamin, Maria
core   +1 more source

The Conserved nhaAR Operon Is Drastically Divergent between B2 and Non-B2 Escherichia coli and Is Involved in Extra-Intestinal Virulence [PDF]

, 2014
The Escherichia coli species is divided in phylogenetic groups that differ in their virulence and commensal distribution. Strains belonging to the B2 group are involved in extra-intestinal pathologies but also appear to be more prevalent as commensals ...
Cruveiller, S, Dion, S, Gateau, C, Glodt, J, Launay, A, Ledda, A, Lescat, M, Pintard, C, Reibel, F, Tenaillon, O, Tourret, J   +10 more
core   +7 more sources

Metachromatic Leukodystrophy Clinical, Biological and Therapeutic Aspects [PDF]

, 2012
Non
Abdelhedi Miled, Ilhem Barboura, Irène Maire, Salima Ferchichi   +3 more
core   +1 more source

Clinical, biochemical and molecular characterization of prosaposin deficiency [PDF]

, 2016
Prosaposin (PSAP) deficiency is an ultra-rare, fatal infantile lysosomal storage disorder (LSD) caused by variants in the PSAP gene, with 7 subjects reported so far.
Burlina A., Celato A., Di Fruscio G., Furlan F., Manara R., Motta M., Nigro V., Polo G., Salvioli R., Tartaglia M., Tatti M.   +10 more
core   +1 more source

Alkaline Phosphatases: Structure, substrate specificity and functional relatedness to other members of a large superfamily of enzymes [PDF]

, 2006
Our knowledge of the structure and function of alkaline phosphatases has increased greatly in recent years. The crystal structure of the human placental isozyme has enabled us to probe salient features of the mammalian enzymes that differ from those of ...
A Kozlenkov, A Kozlenkov, AA Rezende, B Lorenz, B Stec, C Hummer, D Harmey, D Sarrouilhe, DW Moss, E Mornet, F Vittur, G Rindi, GP Smith, JC Say, JL Millán, JM Pizauro, José Luis Millán, JR Farley, K Sumikawa, KN Fedde, KN Fedde, L Hessle, LA Rezende, LN Wu, M Bossi, M Picher, MA Demenis, MD Fallon, MF Hoylaerts, MF Hoylaerts, MF Hoylaerts, MG Low, MH Du Le, MH Du Le, MP Whyte, MP Whyte, MY Galperin, MY Galperin, P Llinas, PA Tsonis, PD Wilson, R Breathnach, R Gijsbers, R Micanovic, RB McComb, RJ Majeska, RJ Scheibe, RV Nayudu, S Mauro Di, S Ohkubo   +49 more
core   +2 more sources

Neurological deficits and glycosphingolipid accumulation in saposin B deficient mice [PDF]

, 2008
Saposin B derives from the multi-functional precursor, prosaposin, and functions as an activity enhancer for several glycosphingolipid (GSL) hydrolases. Mutations in saposin B present in humans with phenotypes resembling metachromatic leukodystrophy.
Azuma, C. V. Vorhees, D. P. Witte, De Haas, Eckhardt, Fewou, Fujita, F  rst, G. A. Grabowski, Gordon, H. Cheng, H. Ran, Han, Harzer, Hess, Hiraiwa, Holtschmidt, Hulkova, Hurwitz, Ioannou, Jiang, Li, Li, Li, M. R. Skelton, M. T. Williams, M. Zamzow, Matsuda, Nakano, O'Brien, Ohshima, Phaneuf, P  mpols, Qi, Rafi, Rorman, S. Barnes, Salvioli, Sandhoff, Schnabel, Sun, Tybulewicz, Wrobe, X. Han, Xu, Y. Sun, Zhang, Zschoche   +47 more
core   +3 more sources