Differences in MPS I and MPS II disease manifestations

CS Hampe, BD Yund, PJ Orchard, TC Lund… - International journal of …, 2021 - mdpi.com
Mucopolysaccharidosis (MPS) type I and II are two closely related lysosomal storage
diseases associated with disrupted glycosaminoglycan catabolism. In MPS II, the first step of …

Functions and mechanisms of the GPCR adaptor protein Norbin

SA Chetwynd, S Andrews, S Inglesfield… - Biochemical Society …, 2023 - portlandpress.com
Norbin (Neurochondrin, NCDN) is a highly conserved 79 kDa adaptor protein that was first
identified more than a quarter of a century ago as a gene up-regulated in rat hippocampus …

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 …

Mass spectrometry-based proteomics in neurodegenerative lysosomal storage disorders

W Li, SM Cologna - Molecular omics, 2022 - pubs.rsc.org
The major function of the lysosome is to degrade unwanted materials such as lipids,
proteins, and nucleic acids; therefore, deficits of the lysosomal system can result in improper …

4-Ethylphenol—fluxes, metabolism and excretion of a gut microbiome derived neuromodulator implicated in autism

F Day, J O'Sullivan, C Pook - Frontiers in Molecular Biosciences, 2023 - frontiersin.org
Gut-microbiome-derived metabolites, such as 4-Ethylphenol [4EP], have been shown to
modulate neurological health and function. Although the source of such metabolites is …

A perspective on research, diagnosis, and management of lysosomal storage disorders in Colombia

MA Puentes-Tellez, PA Lerma-Barbosa… - Heliyon, 2020 - cell.com
Lysosomal storage diseases (LSDs) are a group of about 50 inborn errors of metabolism
characterized by the lysosomal accumulation of partially or non-degraded molecules due to …

[HTML][HTML] A close-up view of the Hunter syndrome

CC Ramírez, CJ Alméciga-Díaz, M Martín-Rufián… - Biochemical and …, 2024 - Elsevier
Abstract The Lysosomal Storage disease known as Mucopolysaccharidosis type II, is
caused by mutations affecting the iduronate-2-sulfatase required for heparan and dermatan …

Iduronate-2-sulfatase interactome: validation by yeast two-hybrid assay

E Benincore-Flórez, J El-Azaz, GA Solarte… - Heliyon, 2022 - cell.com
Background Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is a
rare X-linked recessive disease caused by a deficiency of the lysosomal enzyme iduronate …

Learning protein in computer-based biochemistry courses

A Klaritasari, H Susanto, B Balqis - AIP Conference Proceedings, 2024 - pubs.aip.org
The purpose of this development research is to produce teaching materials in the form of
problem-based learning-based bioinformatics e-modules for biochemistry courses that meet …