Stem Cell ResearchMucopolysaccharidosis type IVA (MPS IVA) is an autosomal recessive lysosomal storage disorder (LSD) caused by a deficiency of enzyme N-acetylgalactosamine-6-sulfatase (GALNS), characterised by systemic skeletal dysplasia and joint abnormalities with ...
Federica Feo +10 more
doaj +6 more sources
European Journal of Case Reports in Internal Medicine, 2023 Mucopolysaccharidosis type IVA (MPS-IVA) is a rare lysosomal storage disease caused by N-acetylglucosamine-6-sulfate-sulfatase enzyme deficiency.
Anita Vergatti +5 more
doaj +2 more sources
Common N-acetylgalactosamine-6-sulfate sulfatase (GALNS) exon mutations in Brazilian patients with mucopolysaccharidosis IVA (MPS IVA) [PDF]
Genetics and Molecular Biology, 2007 Morquio A Syndrome (mucopolysaccharidosis IVA - MPS IVA, OMIM# 253000) is an autosomal recessive inborn error of metabolism caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS). We investigated five unrelated Brazilian MPS IVA families for mutations in exons 4, 5, 9 and 10 of the GALNS gene.
Dieter, Tatiana +4 more
openaire +6 more sources
Development of a fluorometric microtiter plate based enzyme assay for MPS IVA (Morquio type A) using dried blood spots [PDF]
Molecular Genetics and Metabolism Reports, 2014 Mucopolysaccharidosis type IVA or Morquio type-A disease is a hereditary lysosomal storage disorder caused by deficient activity of the lysosomal enzyme N-acetylgalactosamine-6-sulfate sulfatase (GALNS). The disease is caused by lysosomal accumulation of
Deeksha S Bali
exaly +3 more sources
CRISPR/nCas9-Edited CD34+ Cells Rescue Mucopolysaccharidosis IVA Fibroblasts Phenotype [PDF]
International Journal of Molecular SciencesMucopolysaccharidosis (MPS) IVA is a bone-affecting lysosomal storage disease (LSD) caused by impaired degradation of the glycosaminoglycans (GAGs) keratan sulfate (KS) and chondroitin 6-sulfate (C6S) due to deficient N-acetylgalactosamine-6-sulfatase ...
Andres Felipe Leal +2 more
exaly +5 more sources
Enzyme replacement in a human model of mucopolysaccharidosis IVA in vitro and its biodistribution in the cartilage of wild type mice. [PDF]
PLoS ONE, 2010 Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is a lysosomal storage disorder caused by deficiency of N-acetylgalactosamine-6-sulfatase (GALNS), an enzyme that degrades keratan sulfate (KS). Currently no therapy for MPS IVA is available.
Melita Dvorak-Ewell +7 more
doaj +2 more sources
Clinical, radiologic, and genetic features of Korean patients with Mucopolysaccharidosis IVA [PDF]
Korean Journal of Pediatrics, 2012 PurposeMucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is rare lysosomal storage disorder caused by N-acetylgalactosamine-6-sulfatase (GALNS) deficiency.
Na Hee Lee +7 more
doaj +3 more sources
Iron oxide-coupled CRISPR-nCas9-based genome editing assessment in mucopolysaccharidosis IVA mice
Molecular Therapy: Methods & Clinical Development, 2023 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 chondroitin 6-sulfate, causing skeletal dysplasia and cardiopulmonary complications.
Andrés Felipe Leal +5 more
doaj +4 more sources
Pathophysiology of Hip Disorders in Patients with Mucopolysaccharidosis IVA
Diagnostics, 2020 Patients with mucopolysaccharidoses IVA (MPS IVA) have a progressive accumulation of the specific glycosaminoglycans (GAGs): chondroitin-6-sulfate (C6S) and keratan sulfate (KS), leading to the degeneration of the cartilage matrix and its connective ...
Zhigang Wang +5 more
doaj +2 more sources
Evidence of epigenetic landscape shifts in mucopolysaccharidosis IIIB and IVA
Scientific ReportsLysosomal storage diseases (LSDs) are a group of monogenic diseases characterized by mutations in genes coding for proteins associated with the lysosomal function.
Viviana Vargas-López +2 more
doaj +2 more sources