Mucopolysaccharidoses: cellular consequences of glycosaminoglycans accumulation and potential targets
Mucopolysaccharidoses (MPSs) constitute a heterogeneous group of lysosomal storage
disorders characterized by the lysosomal accumulation of glycosaminoglycans (GAGs) …
disorders characterized by the lysosomal accumulation of glycosaminoglycans (GAGs) …
[HTML][HTML] Mucopolysaccharidosis type IIIE: A real human disease or a diagnostic pitfall?
K Wiśniewska, J Wolski, M Żabińska, A Szulc, L Gaffke… - Diagnostics, 2024 - mdpi.com
Mucopolysaccharidoses (MPS) comprise a group of 12 metabolic disorders where defects in
specific enzyme activities lead to the accumulation of glycosaminoglycans (GAGs) within …
specific enzyme activities lead to the accumulation of glycosaminoglycans (GAGs) within …
Phenotypic Correction of Murine Mucopolysaccharidosis Type II by Engraftment of Ex Vivo Lentiviral Vector-Transduced Hematopoietic Stem and Progenitor Cells
MC Smith, LR Belur, AD Karlen, O Erlanson… - Human gene …, 2022 - liebertpub.com
Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is an X-linked recessive lysosomal
disease caused by deficiency of iduronate-2-sulfatase (IDS). The absence of IDS results in …
disease caused by deficiency of iduronate-2-sulfatase (IDS). The absence of IDS results in …
A novel CRISPR/Cas9-based iduronate-2-sulfatase (IDS) knockout human neuronal cell line reveals earliest pathological changes
L Badenetti, R Manzoli, M Trevisan, F D'Avanzo… - Scientific Reports, 2023 - nature.com
Multiple complex intracellular cascades contributing to Hunter syndrome (
mucopolysaccharidosis type II) pathogenesis have been recognized and documented in the …
mucopolysaccharidosis type II) pathogenesis have been recognized and documented in the …
Pathogenic roles of heparan sulfate and its use as a biomarker in mucopolysaccharidoses
K Minami, H Morimoto, H Morioka, A Imakiire… - International Journal of …, 2022 - mdpi.com
Heparan sulfate (HS) is an essential glycosaminoglycan (GAG) as a component of
proteoglycans, which are present on the cell surface and in the extracellular matrix. HS …
proteoglycans, which are present on the cell surface and in the extracellular matrix. HS …
[HTML][HTML] Changes in expression of signal transduction-related genes, and formation of aggregates of GPER1 and OXTR receptors in mucopolysaccharidosis cells
K Pierzynowska, M Żabińska, L Gaffke, Z Cyske… - European Journal of …, 2022 - Elsevier
Mucopolysaccharidoses (MPS) are inherited metabolic diseases caused by storage of
glycosaminoglycans (GAGs), however, various modulations of the course of these diseases …
glycosaminoglycans (GAGs), however, various modulations of the course of these diseases …
Mature neurons from iPSCs unveil neurodegeneration-related pathways in mucopolysaccharidosis type II: GSK-3β inhibition for therapeutic potential
TY Chen, SP Lin, DF Huang, HS Huang, FC Tsai… - Cell Death & …, 2024 - nature.com
Mucopolysaccharidosis (MPS) type II is caused by a deficiency of iduronate-2-sulfatase and
is characterized by the accumulation of glycosaminoglycans (GAGs). Without effective …
is characterized by the accumulation of glycosaminoglycans (GAGs). Without effective …
[HTML][HTML] Timing is everything: Clinical courses of Hunter syndrome associated with age at initiation of therapy in a sibling pair
N Grant, YB Sohn, NM Ellinwood, E Okenfuss… - Molecular Genetics and …, 2022 - Elsevier
Hunter syndrome, or mucopolysaccharidosis (MPS) II, is a rare lysosomal disorder
characterized by progressive, multi-system disease. As most symptoms cannot be reversed …
characterized by progressive, multi-system disease. As most symptoms cannot be reversed …
Loss of function of mutant IDS due to endoplasmic reticulum-associated degradation: new therapeutic opportunities for mucopolysaccharidosis type II
K Matsuhisa, K Imaizumi - International Journal of Molecular Sciences, 2021 - mdpi.com
Mucopolysaccharidosis type II (MPS II) results from the dysfunction of a lysosomal enzyme,
iduronate-2-sulfatase (IDS). Dysfunction of IDS triggers the lysosomal accumulation of its …
iduronate-2-sulfatase (IDS). Dysfunction of IDS triggers the lysosomal accumulation of its …
Understanding the challenges, unmet needs, and expectations of mucopolysaccharidoses I, II and VI patients and their caregivers in France: a survey study
N Guffon, D Genevaz, D Lacombe… - Orphanet Journal of …, 2022 - Springer
Background Mucopolysaccharidoses (MPS) are a group of inherited lysosomal storage
diseases caused by defective enzyme activity involved in the catalysis of …
diseases caused by defective enzyme activity involved in the catalysis of …