Associated Papers
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
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
Select a paper to view details