Associated Papers
Recent advances in mucopolysaccharidosis IVA treatment.
Leal AF et al.
Orphanet Journal of Rare Diseases, 2025
Diminished GALNS activity in induced pluripotent stem cells of mucopolysaccharidosis IVA caused by compound p.S162Y and p.C165F mutation.
Jiang X et al.
Qjm : Monthly Journal of the Association of Physicians, 2025
Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in India.
Sheth H et al.
Human Genomics, 2024
ONT long-read WGS for variant discovery and orthogonal confirmation of short read WGS derived genetic variants in clinical genetic testing.
Kaplun L et al.
Frontiers in Genetics, 2023
Delivery and assessment of a CRISPR/nCas9-based genome editing system on in vitro models of mucopolysaccharidoses IVA assisted by magnetite-based nanoparticles.
Leal AF et al.
Scientific Reports, 2022
Investigation of GALNS variants and genotype-phenotype correlations in a large cohort of patients with mucopolysaccharidosis type IVA.
Yi M et al.
Journal of Inherited Metabolic Disease, 2022
Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants.
Zanetti A et al.
Human Mutation, 2021
The Association Between Lysosomal Storage Disorder Genes and Parkinson's Disease: A Large Cohort Study in Chinese Mainland Population.
Zhao YW et al.
Frontiers in Aging Neuroscience, 2021
Bromocriptine as a Novel Pharmacological Chaperone for Mucopolysaccharidosis IV A.
Olarte-Avellaneda S et al.
Acs Medicinal Chemistry Letters, 2020
Mucopolysaccharidosis IVA: Diagnosis, Treatment, and Management.
Sawamoto K et al.
International Journal of Molecular Sciences, 2020
Advances in the Development of Pharmacological Chaperones for the Mucopolysaccharidoses.
Losada Díaz JC et al.
International Journal of Molecular Sciences, 2019
Identification of Ezetimibe and Pranlukast as Pharmacological Chaperones for the Treatment of the Rare Disease Mucopolysaccharidosis Type IVA.
Alméciga-Diaz CJ et al.
Journal of Medicinal Chemistry, 2019
Generation of an induced pluripotent stem cell line (TRNDi005-A) from a Mucopolysaccharidosis Type IVA (MPS IVA) patient carrying compound heterozygous p.R61W and p.WT405del mutations in the GALNS gene.
Li R et al.
Stem Cell Research, 2019
Morquio A syndrome-associated mutations: a review of alterations in the GALNS gene and a new locus-specific database.
Morrone A et al.
Human Mutation, 2014
The structure of human GALNS reveals the molecular basis for mucopolysaccharidosis IV A.
Rivera-Colón Y et al.
Journal of Molecular Biology, 2012
The genomic landscapes of human breast and colorectal cancers.
Wood LD et al.
Science (new York, N.y.), 2007
Mucopolysaccharidosis IVA: correlation between genotype, phenotype and keratan sulfate levels.
Dũng VC et al.
Molecular Genetics and Metabolism, 0