[HTML][HTML] Mucopolysaccharidosis IVA: diagnosis, treatment, and management

K Sawamoto, JV Álvarez González, M Piechnik… - International journal of …, 2020 - mdpi.com
Mucopolysaccharidosis type IVA (MPS IVA, or Morquio syndrome type A) is an inherited
metabolic lysosomal disease caused by the deficiency of the N-acetylglucosamine-6-sulfate …

[HTML][HTML] Mucopolysaccharidoses: cellular consequences of glycosaminoglycans accumulation and potential targets

AF Leal, E Benincore-Flórez, E Rintz… - International Journal of …, 2022 - mdpi.com
Mucopolysaccharidoses (MPSs) constitute a heterogeneous group of lysosomal storage
disorders characterized by the lysosomal accumulation of glycosaminoglycans (GAGs) …

Lysosomal storage diseases: current therapies and future alternatives

AF Leal, AJ Espejo-Mojica, OF Sánchez… - Journal of Molecular …, 2020 - Springer
Lysosomal storage disorders (LSDs) are a group of monogenic diseases characterized by
progressive accumulation of undegraded substrates into the lysosome, due to mutations in …

Repurposing cefuroxime for treatment of COVID-19: a scoping review of in silico studies

AB Durojaiye, JRD Clarke… - Journal of …, 2021 - Taylor & Francis
Abstract Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2), the causative
agent of Coronavirus disease 19 (COVID-19), is a novel human Coronavirus that is …

Efficient CRISPR/Cas9 nickase-mediated genome editing in an in vitro model of mucopolysaccharidosis IVA

AF Leal, CJ Alméciga-Díaz - Gene Therapy, 2023 - nature.com
Abstract Mucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disorder (LSD)
caused by mutations in gene encoding for GALNS enzyme. Lack of GALNS activity leads to …

[HTML][HTML] Iron oxide-coupled CRISPR-nCas9-based genome editing assessment in mucopolysaccharidosis IVA mice

AF Leal, B Celik, N Fnu, S Khan, S Tomatsu… - … Therapy-Methods & …, 2023 - cell.com
Mucopolysaccharidosis (MPS) IVA is a lysosomal storage disorder caused by mutations in
the GALNS gene that leads to the lysosomal accumulation of keratan sulfate (KS) and …

[HTML][HTML] Delivery and assessment of a CRISPR/nCas9-based genome editing system on in vitro models of mucopolysaccharidoses IVA assisted by magnetite-based …

AF Leal, J Cifuentes, CE Torres, D Suárez… - Scientific Reports, 2022 - nature.com
Abstract Mucopolysaccharidosis IV A (MPS IVA) is a lysosomal disorder caused by
mutations in the GALNS gene. Consequently, the glycosaminoglycans (GAGs) keratan …

[HTML][HTML] Advances in the Development of Pharmacological Chaperones for the Mucopolysaccharidoses

JC Losada Díaz, J Cepeda del Castillo… - International Journal of …, 2019 - mdpi.com
The mucopolysaccharidoses (MPS) are a group of 11 lysosomal storage diseases (LSDs)
produced by mutations in the enzymes involved in the lysosomal catabolism of …

Flavone-based arylamides as potential anticancers: design, synthesis and in vitro cell-based/cell-free evaluations

AHE Hassan, KT Lee, YS Lee - European journal of medicinal chemistry, 2020 - Elsevier
Several arylamide-based antiproliferative agents are known and some of them are currently
FDA-approved anticancer drugs. Provoked by the need to fill the existing room with new …

[HTML][HTML] Gold nanoparticles decorated with monosaccharides and sulfated ligands as potential modulators of the lysosomal enzyme N-acetylgalactosamine-6 …

F Buco, C Matassini, C Vanni, F Clemente… - Organic & …, 2023 - pubs.rsc.org
N-Acetylgalactosamine-6-sulfatase (GALNS) is an enzyme whose deficiency is related to the
lysosomal storage disease Morquio A. For the development of effective therapeutic …