Associated Papers
Cellular and molecular changes in mucopolysaccharidosis-plus syndrome caused by a homozygous c.599G > C (p.Arg200Pro) variant of the VPS33A gene.
Cyske Z et al.
Journal of Applied Genetics, 2025
Structure of the human heparan-α-glucosaminide N-acetyltransferase (HGSNAT).
Navratna V et al.
Elife, 2024
Structure of the human heparan-α-glucosaminide N-acetyltransferase (HGSNAT).
Navratna V et al.
Biorxiv : the Preprint Server for Biology, 2024
Decreased Levels of Chaperones in Mucopolysaccharidoses and Their Elevation as a Putative Auxiliary Therapeutic Approach.
Żabińska M et al.
Pharmaceutics, 2023
Complex Changes in the Efficiency of the Expression of Many Genes in Monogenic Diseases, Mucopolysaccharidoses, May Arise from Significant Disturbances in the Levels of Factors Involved in the Gene Expression Regulation Processes.
Cyske Z et al.
Genes, 2022
Impaired ion homeostasis as a possible associate factor in mucopolysaccharidosis pathogenesis: transcriptomic, cellular and animal studies.
Gaffke L et al.
Metabolic Brain Disease, 2022
Mucopolysaccharidosis III: Molecular basis and treatment.
Spahiu L et al.
Pediatric Endocrinology, Diabetes, and Metabolism, 2021
Biochemical and molecular analysis in mucopolysaccharidoses: what a paediatrician must know.
Filocamo M et al.
Italian Journal of Pediatrics, 2018
Progressive neurologic and somatic disease in a novel mouse model of human mucopolysaccharidosis type IIIC.
Marcó S et al.
Disease Models & Mechanisms, 2016
Functional analysis of the HGSNAT gene in patients with mucopolysaccharidosis IIIC (Sanfilippo C Syndrome).
Fedele AO et al.
Human Mutation, 2010
Protein misfolding as an underlying molecular defect in mucopolysaccharidosis III type C.
Feldhammer M et al.
Plos One, 2009
Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene.
Feldhammer M et al.
Human Mutation, 2009
Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands.
Ruijter GJ et al.
Molecular Genetics and Metabolism, 2008
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