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Article

Histological characterization of retinal degeneration in mucopolysaccharidosis type IIIC.

Experimental eye research - 1 Apr 2023

Ludwig Jessica, Sawant Onkar B, Wood Jill, Singamsetty Srikanth, Pan Xuefang, Bonilha Vera L, Rao Sujata, Pshezhetsky Alexey V

Abstract excerpt

Heparan-α-glucosaminide N-acetyltransferase (HGSNAT) participates in lysosomal degradation of heparan sulfate. Mutations in the gene encoding this enzyme cause mucopolysaccharidosis IIIC (MPS IIIC) or Sanfilippo syndrome type C. MPS IIIC patients exhibit progressive neurodegeneration, leading to dementia and death in early adulthood. Currently there is no approved treatment for MPS IIIC. Incidences of...

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Identifiers

PMID: 36858249
DOI: 10.1016/j.exer.2023.109433
PMCID: PMC10103010

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