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The new missense G376V-TDP-43 variant induces late-onset distal myopathy but not amyotrophic lateral sclerosis.
Brain. 2024 May 3;147(5):1768-1783. doi: 10.1093/brain/awad410.
Brain. 2024.
PMID: 38079474
SLC35A2 deficiency reduces protein levels of core 1 β-1,3-galactosyltransferase 1 (C1GalT1) and its chaperone Cosmc and affects their subcellular localization.
Wiertelak W, Chabowska K, Szulc B, Zadorozhna Y, Olczak M, Maszczak-Seneczko D.
Wiertelak W, et al. Among authors: zadorozhna y.
Biochim Biophys Acta Mol Cell Res. 2023 Jun;1870(5):119462. doi: 10.1016/j.bbamcr.2023.119462. Epub 2023 Mar 17.
Biochim Biophys Acta Mol Cell Res. 2023.
PMID: 36933771
Free article.
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Novel Insights into Selected Disease-Causing Mutations within the SLC35A1 Gene Encoding the CMP-Sialic Acid Transporter.
Szulc B, Zadorozhna Y, Olczak M, Wiertelak W, Maszczak-Seneczko D.
Szulc B, et al. Among authors: zadorozhna y.
Int J Mol Sci. 2020 Dec 30;22(1):304. doi: 10.3390/ijms22010304.
Int J Mol Sci. 2020.
PMID: 33396746
Free PMC article.
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