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Severe central nervous system demyelination in Sanfilippo disease.
Taherzadeh M, Zhang E, Londono I, De Leener B, Wang S, Cooper JD, Kennedy TE, Morales CR, Chen Z, Lodygensky GA, Pshezhetsky AV. Taherzadeh M, et al. Among authors: pshezhetsky av. Front Mol Neurosci. 2023 Dec 13;16:1323449. doi: 10.3389/fnmol.2023.1323449. eCollection 2023. Front Mol Neurosci. 2023. PMID: 38163061 Free PMC article.
Secondary deficiency of neuraminidase 1 contributes to CNS pathology in neurological mucopolysaccharidoses via hypersialylation of brain glycoproteins.
Xu T, Heon-Roberts R, Moore T, Dubot P, Pan X, Guo T, Cairo CW, Holley R, Bigger B, Durcan TM, Levade T, Ausseil J, Amilhon B, Gorelik A, Nagar B, Sturiale L, Palmigiano A, Röckle I, Thiesler H, Hildebrandt H, Garozzo D, Pshezhetsky AV. Xu T, et al. Among authors: pshezhetsky av. bioRxiv [Preprint]. 2024 Apr 27:2024.04.26.587986. doi: 10.1101/2024.04.26.587986. bioRxiv. 2024. PMID: 38712143 Free PMC article. Preprint.
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.
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.
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.
121 results