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Page 1
Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome).
Hrebícek M, Mrázová L, Seyrantepe V, Durand S, Roslin NM, Nosková L, Hartmannová H, Ivánek R, Cízkova A, Poupetová H, Sikora J, Urinovská J, Stranecký V, Zeman J, Lepage P, Roquis D, Verner A, Ausseil J, Beesley CE, Maire I, Poorthuis BJ, van de Kamp J, van Diggelen OP, Wevers RA, Hudson TJ, Fujiwara TM, Majewski J, Morgan K, Kmoch S, Pshezhetsky AV. Hrebícek M, et al. Among authors: pshezhetsky av. Am J Hum Genet. 2006 Nov;79(5):807-19. doi: 10.1086/508294. Epub 2006 Sep 8. Am J Hum Genet. 2006. PMID: 17033958 Free PMC article.
N-acetylneuraminate pyruvate lyase controls sialylation of muscle glycoproteins essential for muscle regeneration and function.
Da Silva A, Dort J, Orfi Z, Pan X, Huang S, Kho I, Heckel E, Muscarnera G, van Vliet PP, Sturiale L, Messina A, Romeo DA, van Karnebeek CDM, Wen XY, Hinek A, Molina T, Andelfinger G, Ellezam B, Yamanaka Y, Olivos HJ, Morales CR, Joyal JS, Lefeber DJ, Garozzo D, Dumont NA, Pshezhetsky AV. Da Silva A, et al. Among authors: pshezhetsky av. Sci Adv. 2023 Jun 30;9(26):eade6308. doi: 10.1126/sciadv.ade6308. Epub 2023 Jun 30. Sci Adv. 2023. PMID: 37390204 Free PMC article.
Effects of Heparan sulfate acetyl-CoA: Alpha-glucosaminide N-acetyltransferase (HGSNAT) inactivation on the structure and function of epithelial and immune cells of the testis and epididymis and sperm parameters in adult mice.
Carvelli L, Hermo L, O'Flaherty C, Oko R, Pshezhetsky AV, Morales CR. Carvelli L, et al. Among authors: pshezhetsky av. PLoS One. 2023 Sep 27;18(9):e0292157. doi: 10.1371/journal.pone.0292157. eCollection 2023. PLoS One. 2023. PMID: 37756356 Free PMC article.
Structure and mechanism of lysosome transmembrane acetylation by HGSNAT.
Xu R, Ning Y, Ren F, Gu C, Zhu Z, Pan X, Pshezhetsky AV, Ge J, Yu J. Xu R, et al. Among authors: pshezhetsky av. Nat Struct Mol Biol. 2024 Oct;31(10):1502-1508. doi: 10.1038/s41594-024-01315-5. Epub 2024 May 20. Nat Struct Mol Biol. 2024. PMID: 38769387
Spinal muscular atrophy-like phenotype in a mouse model of acid ceramidase deficiency.
Nagree MS, Rybova J, Kleynerman A, Ahrenhoerster CJ, Saville JT, Xu T, Bachochin M, McKillop WM, Lawlor MW, Pshezhetsky AV, Isaeva O, Budde MD, Fuller M, Medin JA. Nagree MS, et al. Among authors: pshezhetsky av. Commun Biol. 2023 May 25;6(1):560. doi: 10.1038/s42003-023-04932-w. Commun Biol. 2023. PMID: 37231125 Free PMC article.
Molecular pathology of NEU1 gene in sialidosis.
Seyrantepe V, Poupetova H, Froissart R, Zabot MT, Maire I, Pshezhetsky AV. Seyrantepe V, et al. Among authors: pshezhetsky av. Hum Mutat. 2003 Nov;22(5):343-52. doi: 10.1002/humu.10268. Hum Mutat. 2003. PMID: 14517945 Review.
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