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Neuroinflammation, mitochondrial defects and neurodegeneration in mucopolysaccharidosis III type C mouse model.
Martins C, Hůlková H, Dridi L, Dormoy-Raclet V, Grigoryeva L, Choi Y, Langford-Smith A, Wilkinson FL, Ohmi K, DiCristo G, Hamel E, Ausseil J, Cheillan D, Moreau A, Svobodová E, Hájková Z, Tesařová M, Hansíková H, Bigger BW, Hrebícek M, Pshezhetsky AV. Martins C, et al. Among authors: pshezhetsky av. Brain. 2015 Feb;138(Pt 2):336-55. doi: 10.1093/brain/awu355. Epub 2015 Jan 6. Brain. 2015. PMID: 25567323 Free PMC article.
A novel adeno-associated virus capsid with enhanced neurotropism corrects a lysosomal transmembrane enzyme deficiency.
Tordo J, O'Leary C, Antunes ASLM, Palomar N, Aldrin-Kirk P, Basche M, Bennett A, D'Souza Z, Gleitz H, Godwin A, Holley RJ, Parker H, Liao AY, Rouse P, Youshani AS, Dridi L, Martins C, Levade T, Stacey KB, Davis DM, Dyer A, Clément N, Björklund T, Ali RR, Agbandje-McKenna M, Rahim AA, Pshezhetsky A, Waddington SN, Linden RM, Bigger BW, Henckaerts E. Tordo J, et al. Brain. 2018 Jul 1;141(7):2014-2031. doi: 10.1093/brain/awy126. Brain. 2018. PMID: 29788236 Free PMC article.
Early defects in mucopolysaccharidosis type IIIC disrupt excitatory synaptic transmission.
Pará C, Bose P, Bruno L, Freemantle E, Taherzadeh M, Pan X, Han C, McPherson PS, Lacaille JC, Bonneil É, Thibault P, O'Leary C, Bigger B, Morales CR, Di Cristo G, Pshezhetsky AV. Pará C, et al. Among authors: pshezhetsky av. JCI Insight. 2021 Aug 9;6(15):e142073. doi: 10.1172/jci.insight.142073. JCI Insight. 2021. PMID: 34156977 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.
126 results