Results 81 to 90 of about 25,056,579 (316)

Analysis of carbohydrates and glycoconjugates by matrix‐assisted laser desorption/ionization mass spectrometry: An update for 2021–2022

Mass Spectrometry Reviews, Volume 44, Issue 3, Page 213-453, May/June 2025.
Abstract The use of matrix‐assisted laser desorption/ionization (MALDI) mass spectrometry for the analysis of carbohydrates and glycoconjugates is a well‐established technique and this review is the 12th update of the original article published in 1999 and brings coverage of the literature to the end of 2022.
David J. Harvey
wiley   +1 more source

Metachromatic Leukodystrophy: Diagnosis, Modeling, and Treatment Approaches

Frontiers in Medicine, 2020
Metachromatic leukodystrophy is a lysosomal storage disease, which is characterized by damage of the myelin sheath that covers most of nerve fibers of the central and peripheral nervous systems.
Alisa A. Shaimardanova, Daria S. Chulpanova, Daria S. Chulpanova, Valeriya V. Solovyeva, Valeriya V. Solovyeva, Aysilu I. Mullagulova, Kristina V. Kitaeva, Cinzia Allegrucci, Albert A. Rizvanov   +8 more
doaj   +1 more source

N-acetylgalactosamine-4-sulfatase: identification of four new mutations within the conserved sulfatase region causing mucopolysaccharidosis type VI [PDF]

, 1995
Mucopolysaccharidosis type VI (MPS VI; Maroteaux-Larry syndrome) is the lysosomal storage disorder resulting from the deficient activity of Nacetylgalactosamine-4-sulfatas (arylsulfatase B; ASB).
Schuchman, Edward Howard, Simonaro, Calogera Maria   +1 more
core   +1 more source

Metachromatic leukodystrophy: arylsulfatase-A deficiency in skin fibroblast cultures.

Proceedings of the National Academy of Sciences of the United States of America, 1969
Fibroblasts cultured from the skin of a patient with metachromatic leukodystrophy have been found to manifest the biochemical defect of this inborn error of metabolism, a deficiency of arylsulfatase A. Diseased cells had less than five per cent of normal
M. T. Porter, A. Fluharty, H. Kihara
semanticscholar   +1 more source

Immune Dysregulation in a Child With SOD1‐Related Neurological Disease

American Journal of Medical Genetics Part A, Volume 197, Issue 4, April 2025.
ABSTRACT Spastic tetraplegia and axial hypotonia (STAHP) associated with biallelic SOD1 deficiency is a recently described neurological disorder affecting children. Five studies have described a total of nine cases thus far, all characterized by the onset of progressive spastic tetraplegia beginning before 2 years of age. All but two of these cases are
Rozlyn Claire Thomas Boutin, Farzaneh Shobeirian, Shelin Adam, Anna Lehman, Ramona Salvarinova, Jan M Friedman   +5 more
wiley   +1 more source

Cultural conditions of arylsulfatase activity in Escherichia coli [PDF]

, 1986
Arylsulfatase activity and growth were estimated in Escherichia coli, isolated from marine sediment. Maximum activity was observed at pH 6.6 whereas the maximum growth was at pH 5.6.
Chandramohan, D., Dhevendaran, K., Natarajan, R.   +2 more
core  

Metachromatic Leukodystrophy Clinical, Biological and Therapeutic Aspects [PDF]

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

Arylsulfatase G, a Novel Lysosomal Sulfatase [PDF]

Journal of Biological Chemistry, 2008
The sulfatases constitute a conserved family of enzymes that specifically hydrolyze sulfate esters in a wide variety of substrates such as glycosaminoglycans, steroid sulfates, or sulfolipids. By modifying the sulfation state of their substrates, sulfatases play a key role in the control of physiological processes, including cellular degradation, cell ...
Frese, Marc-Andre, Schulz, Stefanie, Dierks, Thomas   +2 more
openaire   +5 more sources

Expanded carrier screening for inherited genetic disease using exome and genome sequencing

Journal of Genetic Counseling, Volume 34, Issue 2, April 2025.
Abstract The goal of this study was to assess the feasibility of using exome (ES) and genome sequencing (GS) in guiding preconception genetic screening (PCGS) for couples who are planning to conceive by creating a workflow for identifying risk alleles for autosomal recessive (AR) and X‐linked (XL) disorders without the constraints of a predetermined ...
N. Belnap, K. Ramsey, A. Abraham, A. Ryan, S. Rangasamy, A. Bonfitto, M. Naymik, M. Huentelman, S. Strom, D. Perry, A. Subramaniam, W. W. Grody, S. Szelinger, V. Narayanan   +13 more
wiley   +1 more source

Cloning and Expression of Human Arylsulfatase A

Journal of Biological Chemistry, 1989
A full length cDNA for human arylsulfatase A was cloned and sequenced. The predicted amino acid sequence comprises 507 residues. A putative signal peptide of 18 residues is followed by the NH2-terminal sequence of placental arylsulfatase A. One of the arylsulfatase A peptides ends 3 residues ahead of the predicted COOH terminus.
Abdul Waheed, H E Meyer, Regina Pohlmann, J. S. O'brien, Volkmar Gieselmann, K von Figura, J. Kreysing, Bernhard Schmidt, C. Stein   +8 more
openaire   +3 more sources