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Structure of the human heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT).
Navratna V, Kumar A, Rana JK, Mosalaganti S. Navratna V, et al. Elife. 2024 Aug 28;13:RP93510. doi: 10.7554/eLife.93510. Elife. 2024. PMID: 39196614 Free PMC article.
Acetylation of the terminal non-reducing amino group of alpha-D-glucosamine of HS is essential for its complete breakdown into monosaccharides and free sulfate. Heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT), a resident of the lysosoma …
Acetylation of the terminal non-reducing amino group of alpha-D-glucosamine of HS is essential for its complete breakdown into monosaccharid …
Histological characterization of retinal degeneration in mucopolysaccharidosis type IIIC.
Ludwig J, Sawant OB, Wood J, Singamsetty S, Pan X, Bonilha VL, Rao S, Pshezhetsky AV. Ludwig J, et al. Exp Eye Res. 2023 Apr;229:109433. doi: 10.1016/j.exer.2023.109433. Epub 2023 Feb 27. Exp Eye Res. 2023. PMID: 36858249 Free PMC article.
Heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT) participates in lysosomal degradation of heparan sulfate. ...The goal of this study was to investigate retinal degeneration phenotype in the Hgsnat knockout mouse model of MPS IIIC …
Heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT) participates in lysosomal degradation of heparan …
Structural and mechanistic insights into a lysosomal membrane enzyme HGSNAT involved in Sanfilippo syndrome.
Zhao B, Cao Z, Zheng Y, Nguyen P, Bowen A, Edwards RH, Stroud RM, Zhou Y, Van Lookeren Campagne M, Li F. Zhao B, et al. Nat Commun. 2024 Jun 25;15(1):5388. doi: 10.1038/s41467-024-49614-1. Nat Commun. 2024. PMID: 38918376 Free PMC article.
Before the glycosidases can act, the terminal glucosamine of HS must be acetylated by the integral lysosomal membrane enzyme heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT). Mutations of HGSNAT cause HS accumulation and consequen …
Before the glycosidases can act, the terminal glucosamine of HS must be acetylated by the integral lysosomal membrane enzyme heparan-alph …
Drosophila melanogaster models of MPS IIIC (Hgsnat-deficiency) highlight the role of glia in disease presentation.
Hewson L, Choo A, Webber DL, Trim PJ, Snel MF, Fedele AO, Hopwood JJ, Hemsley KM, O'Keefe LV. Hewson L, et al. J Inherit Metab Dis. 2024 Mar;47(2):340-354. doi: 10.1002/jimd.12712. Epub 2024 Jan 18. J Inherit Metab Dis. 2024. PMID: 38238109
Mutations in the gene encoding the membrane protein heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT; EC2.3.1.78) cause MPS IIIC (OMIM#252930), typified by impaired cognition, sleep-wake cycle changes, hyperactivity and early death, often …
Mutations in the gene encoding the membrane protein heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT …
Expanding the phenotypic and genotypic spectrum of patients with HGSNAT-related retinopathy.
da Palma MM, Marra M, Igelman AD, Ku CA, Burr A, Andersen K, Everett LA, Porto FBO, Sallum JMF, Yang P, Pennesi ME. da Palma MM, et al. Ophthalmic Genet. 2024 Apr;45(2):167-174. doi: 10.1080/13816810.2023.2245035. Epub 2023 Aug 17. Ophthalmic Genet. 2024. PMID: 37592806
BACKGROUND: Variants in HGSNAT have historically been associated with syndromic mucopolysaccharidosis type IIIC (MPSIIIC) but more recent studies demonstrate cases of HGSNAT-related non-syndromic retinitis pigmentosa. ...CONCLUSIONS: HGSNAT has high phenotypi …
BACKGROUND: Variants in HGSNAT have historically been associated with syndromic mucopolysaccharidosis type IIIC (MPSIIIC) but more re …
Mucopolysaccharidosis type IIIC in chinese mainland: clinical and molecular characteristics of ten patients and report of six novel variants in the HGSNAT gene.
Liang Y, Gao X, Lu D, Zhang H, Zhang. Liang Y, et al. Metab Brain Dis. 2023 Aug;38(6):2013-2023. doi: 10.1007/s11011-023-01204-8. Epub 2023 Apr 4. Metab Brain Dis. 2023. PMID: 37014526
BACKGROUND: Mucopolysaccharidosis type IIIC (MPS IIIC; Sanfilippo syndrome C) is a rare lysosomal storage disease caused by mutations in the heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT) gene, resulting in the accumulation of heparan …
BACKGROUND: Mucopolysaccharidosis type IIIC (MPS IIIC; Sanfilippo syndrome C) is a rare lysosomal storage disease caused by mutations in the …
Transplantation of Wild-Type Hematopoietic Stem and Progenitor Cells Improves Disease Phenotypes in a Mucopolysaccharidosis IIIC Mouse Model.
Badell-Grau RA, Pakravesh K, Thai KE, Son F, Chen R, Rainaldi J, Duong K, Losay P, Sivakumar A, Khare V, Corl AN, Pithia R, Tran C, Esko JD, Cherqui S. Badell-Grau RA, et al. Cell Transplant. 2025 Jan-Dec;34:9636897251323966. doi: 10.1177/09636897251323966. Epub 2025 Mar 24. Cell Transplant. 2025. PMID: 40126917 Free PMC article.
This resulted in a partial restoration of Hgsnat expression and enzymatic activity along with a significant reduction of the MPS IIIC-specific non-reducing end carbohydrate in the treated Hgsnat(-/-) mice compared to untreated Hgsnat(-/-) mice or Hgsnat …
This resulted in a partial restoration of Hgsnat expression and enzymatic activity along with a significant reduction of the MPS IIIC …
Intraparenchymal convection enhanced delivery of AAV in sheep to treat Mucopolysaccharidosis IIIC.
O'Leary C, Forte G, Mitchell NL, Youshani AS, Dyer A, Wellby MP, Russell KN, Murray SJ, Jolinon N, Jones SA, Stacey K, Davis DM, Henckaerts E, Palmer DN, Kamaly-Asl I, Bigger BW. O'Leary C, et al. J Transl Med. 2023 Jul 5;21(1):437. doi: 10.1186/s12967-023-04208-1. J Transl Med. 2023. PMID: 37407981 Free PMC article.
The missing enzyme, heparan sulfate acetyl-CoA: alpha-glucosaminide-N-acetyltransferase (HGSNAT), is bound to the lysosomal membrane, therefore cannot cross the blood-brain barrier or diffuse between cells. ...AAV-TT-GFP displayed moderately bet …
The missing enzyme, heparan sulfate acetyl-CoA: alpha-glucosaminide-N-acetyltransferase (HGSNAT), is boun …
AAV gene replacement therapy for treating MPS IIIC: Facilitating bystander effects via EV-mRNA cargo.
Bobo TA, Robinson M, Tofade C, Sokolski-Papkov M, Nichols P, Vorobiov S, Fu H. Bobo TA, et al. J Extracell Vesicles. 2024 Jul;13(7):e12464. doi: 10.1002/jev2.12464. J Extracell Vesicles. 2024. PMID: 38961538 Free PMC article.
MPS IIIC is a lysosomal storage disease caused by mutations in heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT), for which no treatment is available. ...In human MPS IIIC cells, rAAV-hHGSNAT(EV) enhanced HGSNAT mRNA and protein ex …
MPS IIIC is a lysosomal storage disease caused by mutations in heparan-alpha-glucosaminide N-acetyltransferase ( …
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