| 1 | NAT8, NAT8B, SLC33A1
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| Nε-lysine acetylation in the endoplasmic reticulum - a novel cellular mechanism that regulates proteostasis and autophagy. 2018 PMID:
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| Farrugia MA, Puglielli L.
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| J Cell Sci. Nov 16;131(22):jcs221747. doi: 10.1242/jcs.221747. 2018
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| 2 | NAT8, NAT8B, SLC33A1
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| Nϵ-lysine acetylation in the lumen of the endoplasmic reticulum: A way to regulate autophagy and maintain protein homeostasis in the secretory pathway
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| Peng Y, Puglielli L.
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| Autophagy. Jun 2;12(6):1051-2. doi: 10.1080/15548627.2016.1164369. Epub 2016 Apr 28. 2016
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| 3 | LCCH, SLC33A1
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| Mutations in SLC33A1 Cause a Lethal Autosomal-Recessive Disorder with Congenital Cataracts, Hearing Loss, and Low Serum Copper and Ceruloplasmin.
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| Huppke P, Brendel C, Kalscheuer V, Korenke GC, Marquardt I, Freisinger P, Christodoulou J, Hillebrand M, Pitelet G, Wilson C, Gruber-Sedlmayr U, Ullmann R, Haas S, Elpeleg O, Nürnberg G, Nürnberg P, Dad S, Møller LB, Kaler SG, Gärtner J.
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| Am J Hum Genet 90(1):61-8.
2012
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| 4 | ERN1, SLC33A1, XBP1
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| SLC33A1/AT-1 protein regulates the induction of autophagy downstream of IRE1/XBP1 pathway.
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| Pehar M, Jonas MC, Hare TM, Puglielli L.
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| J Biol Chem 287(35):29921-30. doi: 10.1074/jbc.M112.363911. Epub 2012 Jul 11.
2012
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| 5 | SLC33A1
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| AT-1 is the ER membrane acetyl-CoA transporter and is essential for cell viability.
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| Jonas MC, Pehar M, Puglielli L.
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| J Cell Sci 123(Pt 19):3378-88. Epub 2010 Sep 7.
2010
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| 6 | SLC33A1, SPG42
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| Prenatal diagnosis of autosomal dominant hereditary spastic paraplegia (SPG42) caused by SLC33A1 mutation in a Chinese kindred.
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| Lin P, Mao F, Liu Q, Shao C, Yan C, Gong Y.
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| Prenat Diagn 30(5):485-6. No abstract available.
2010
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| 7 | SLC33A1, SPG42
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| A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42).
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| Lin P, Li J, Liu Q, Mao F, Li J, Qiu R, Hu H, Song Y, Yang Y, Gao G, Yan C, Yang W, Shao C, Gong Y.
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| Am J Hum Genet. Dec;83(6):752-9. 2008
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| 8 | SLC33A1
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| The acetyl-CoA transporter family SLC33.
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| Hirabayashi Y, Kanamori A, Nomura KH, Nomura K.
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| Pflugers Arch. Feb;447(5):760-2. 2004
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| 9 | SLC33A1
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| Expression cloning and characterization of a cDNA encoding a novel membrane protein required for the formation of O-acetylated ganglioside: a putative acetyl-CoA transporter.
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| Kanamori A, Nakayama J, Fukuda MN, Stallcup WB, Sasaki K, Fukuda M, Hirabayashi Y.
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| Proc Natl Acad Sci U S A 94(7):2897-902. 1997
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