Results 71 to 80 of about 11,998 (213)

The Diagnostic Odyssey of a Biochemically Confirmed Case of ML II: The First Western Patient With LYSET Deficiency

Clinical Genetics, Volume 110, Issue 1, Page 125-130, July 2026.
We identify a female patient with a homozygous nonsense variant (p.Gln38Ter) in the LYSET gene. This is the first western report of a challenging case of an extensive diagnostic odyssey and demonstrates that the LYSET gene must be considered in the differential diagnosis when M6P‐labeled lysosomal enzymes are altered.
Fernanda Sperb‐Ludwig, Taciane Alegra, Leonardo Martinello da Rosa, Nataniel Floriano Ludwig, Renata Voltolini Velho, Ida Vanessa Doederlein Schwartz   +5 more
wiley   +1 more source

Contribution of basic residues of the A helix of heparin cofactor II to heparin- or dermatan sulfate-mediated thrombin inhibition [PDF]

, 2002
Inhibition of thrombin by heparin cofactor II (HCII) is accelerated 1000-fold by heparin or dermatan sulfate. To investigate the contribution of basic residues of the A helix of HCII to this activation, we constructed amino acid substitutions (K101Q ...
Endo, Shunro, Kuwayama, Naoya, Masanori Kurimoto, Naoya Kuwayama, Hirashima, Yutaka, Hayakawa, Yumiko, Kurimoto, Masanori, Hamada, Hideo, Shunro Endo, Yutaka Hirashima, Hayashi, Nakamasa, Yumiko Hayakawa, Nakamasa Hayashi, Hideo Hamada   +13 more
core   +1 more source

Synergistic Effects of a Mixture of Glycosaminoglycans to Inhibit Adipogenesis and Enhance Chondrocyte Features in Multipotent Cells

Cellular Physiology and Biochemistry, 2015
Background/Aims: Multipotent mesenchymal stem cells affect homeostasis of adipose and joint tissues. Factors influencing their differentiation fate are of interest for both obesity and joint problems.
Petar D. Petrov, Nuria Granados, Carles Chetrit, Daniel Martínez-Puig, Andreu Palou, M. Luisa Bonet   +5 more
doaj   +1 more source

Differential Expression of Specific Dermatan Sulfate Domains in Renal Pathology. [PDF]

PLoS ONE, 2015
Dermatan sulfate (DS), also known as chondroitin sulfate (CS)-B, is a member of the linear polysaccharides called glycosaminoglycans (GAGs). The expression of CS/DS and DS proteoglycans is increased in several fibrotic renal diseases, including ...
Joost F M Lensen, Johan van der Vlag, Elly M M Versteeg, Jack F M Wetzels, Lambert P W J van den Heuvel, Jo H M Berden, Toin H van Kuppevelt, Angelique L W M M Rops   +7 more
doaj   +1 more source

Extracellular matrix and proteolysis: mechanisms driving irreversible changes and shaping cell behavior

The FEBS Journal, Volume 293, Issue 13, Page 3788-3813, July 2026.
Irreversible ECM proteolysis by remodeling enzymes shapes development, homeostasis, and disease. ECM‐degrading proteases display cell specificity and are governed by shared mechanisms, exhibiting functional redundancy in generating matrikines, growth factors, and cytokines.
Inna Solomonov, Orit Kollet, Irit Sagi
wiley   +1 more source

Lipoprotein lipase enhances the interaction of low density lipoproteins with artery-derived extracellular matrix proteoglycans

Journal of Lipid Research, 1993
The association of plasma low density lipoproteins (LDL) with arterial proteoglycans (PG) is of key importance in LDL retention and modification in the artery wall.
IJ Edwards, IJ Goldberg, JS Parks, H Xu, WD Wagner   +4 more
doaj   +1 more source

A guide to the types, structures, and multifaceted functions of matrix metalloproteinases in cancer

The FEBS Journal, Volume 293, Issue 13, Page 3717-3757, July 2026.
Matrix metalloproteinases (MMPs) orchestrate cancer progression and metastasis through proteolytic and non‐proteolytic actions. By remodeling the tumor microenvironment, enhancing growth factor availability, and modulating cell behavior, MMPs promote proliferation, migration or invasion, and epithelial‐to‐mesenchymal transition. Alongside extracellular
Zoi Piperigkou, Sylvia Mangani, Spyros Kremmydas, Nikolaos E. Koletsis, Nikos K. Karamanos   +4 more
wiley   +1 more source

Chondroitin / dermatan sulfate modification enzymes in zebrafish development.

PLoS ONE, 2015
Chondroitin/dermatan sulfate (CS/DS) proteoglycans consist of unbranched sulfated polysaccharide chains of repeating GalNAc-GlcA/IdoA disaccharide units, attached to serine residues on specific proteins.
Judith Habicher, Tatjana Haitina, Inger Eriksson, Katarina Holmborn, Tabea Dierker, Per E Ahlberg, Johan Ledin   +6 more
doaj   +1 more source

Development of a fluorometric microtiter plate-based enzyme assay for arylsulfatase B (MPS VI) using dried blood spots

Molecular Genetics and Metabolism Reports, 2014
Mucopolysaccharidosis type VI or Maroteaux–Lamy syndrome is an autosomal recessive lysosomal storage disorder caused by deficiency of arylsulfatase B (ARS-B) enzyme activity.
Anirudh J. Ullal, David S. Millington, Deeksha S. Bali   +2 more
doaj   +1 more source

Mucopolysaccharidosis type I - Clinical and genetic characteristics of Romanian patients

Romanian Journal of Laboratory Medicine, 2020
Background: Mucopolysaccharidosis type I (MPS I) is an autosomal recessive lysosomal storage disorder caused by a deficiency of α-L-iduronidase (IDUA), which leads to the accumulation of partially digested glycosaminoglycans (dermatan sulfate and heparan
Alkhzouz Camelia, Lazea Cecilia, Miclea Diana, Asavoaie Carmen, Nascu Ioana, Pop Tudor, Grigorescu-Sido Paula   +6 more
doaj   +1 more source