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Neuraminidases 3 and 4 regulate neuronal function by catabolizing brain gangliosides.
Pan X, De Aragão CBP, Velasco-Martin JP, Priestman DA, Wu HY, Takahashi K, Yamaguchi K, Sturiale L, Garozzo D, Platt FM, Lamarche-Vane N, Morales CR, Miyagi T, Pshezhetsky AV. Pan X, et al. Among authors: sturiale l. FASEB J. 2017 Aug;31(8):3467-3483. doi: 10.1096/fj.201601299R. Epub 2017 Apr 25. FASEB J. 2017. PMID: 28442549
., Priestman, D. A., Wu, H. Y., Takahashi, K., Yamaguchi, K., Sturiale, L., Garozzo, D., Platt, F. M., Lamarche-Vane, N., Morales, C. ...
., Priestman, D. A., Wu, H. Y., Takahashi, K., Yamaguchi, K., Sturiale, L., Garozzo, D., Platt, F. M., Lamarche-Vane, N., Mora …
A new mutation in COG7 extends the spectrum of COG subunit deficiencies.
Zeevaert R, Foulquier F, Cheillan D, Cloix I, Guffon N, Sturiale L, Garozzo D, Matthijs G, Jaeken J. Zeevaert R, et al. Among authors: sturiale l. Eur J Med Genet. 2009 Sep-Oct;52(5):303-5. doi: 10.1016/j.ejmg.2009.06.006. Epub 2009 Jul 3. Eur J Med Genet. 2009. PMID: 19577670
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: sturiale l. bioRxiv [Preprint]. 2024 Apr 27:2024.04.26.587986. doi: 10.1101/2024.04.26.587986. bioRxiv. 2024. PMID: 38712143 Free PMC article. Preprint.
Early onset epileptic and developmental encephalopathy and MOGS variants: a new diagnosis in the whole exome sequencing (WES) ERA : Report of a new patient and review of the literature.
Teutonico F, Volpe C, Proto A, Costi I, Cavallari U, Doneda P, Iascone M, Sturiale L, Barone R, Martinelli S, Vignoli A. Teutonico F, et al. Among authors: sturiale l. Neurogenetics. 2024 Mar 18. doi: 10.1007/s10048-024-00754-y. Online ahead of print. Neurogenetics. 2024. PMID: 38498292
CSF N-Glycomics Using MALDI MS Techniques.
Messina A, Romeo DA, Barone R, Sturiale L, Palmigiano A, Zappia M, Garozzo D. Messina A, et al. Among authors: sturiale l. Methods Mol Biol. 2024;2785:49-65. doi: 10.1007/978-1-0716-3774-6_4. Methods Mol Biol. 2024. PMID: 38427187
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: sturiale l. 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.
108 results