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Tetrahydrobiopterin deficiency in the pathogenesis of Fabry disease.
Shen JS, Arning E, West ML, Day TS, Chen S, Meng XL, Forni S, McNeill N, Goker-Alpan O, Wang X, Ashcraft P, Moore DF, Cheng SH, Schiffmann R, Bottiglieri T. Shen JS, et al. Among authors: bottiglieri t. Hum Mol Genet. 2017 Mar 15;26(6):1182-1192. doi: 10.1093/hmg/ddx032. Hum Mol Genet. 2017. PMID: 28158561
Folate deficiency induces in vitro and mouse brain region-specific downregulation of leucine carboxyl methyltransferase-1 and protein phosphatase 2A B(alpha) subunit expression that correlate with enhanced tau phosphorylation.
Sontag JM, Nunbhakdi-Craig V, Montgomery L, Arning E, Bottiglieri T, Sontag E. Sontag JM, et al. Among authors: bottiglieri t. J Neurosci. 2008 Nov 5;28(45):11477-87. doi: 10.1523/JNEUROSCI.2816-08.2008. J Neurosci. 2008. PMID: 18987184 Free PMC article.
262 results