| 1 | SCAR21, SCYL1
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| Disruptive SCYL1 Mutations Underlie a Syndrome Characterized by Recurrent Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia.
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| Schmidt WM, Rutledge SL, Schüle R, Mayerhofer B, Züchner S, Boltshauser E, Bittner RE.
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| Am J Hum Genet 97(6):855-61. doi: 10.1016/j.ajhg.2015.10.011. Epub 2015 Nov 12.
2015
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| 2 | SCAR21, SCYL1
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| Scyl1, mutated in a recessive form of spinocerebellar neurodegeneration, regulates COPI-mediated retrograde traffic.
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| Burman JL, Bourbonniere L, Philie J, Stroh T, Dejgaard SY, Presley JF, McPherson PS.
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| J Biol Chem 283(33):22774-86. doi: 10.1074/jbc.M801869200. Epub 2008 Jun 13. 2008
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| 3 | SCAR21, SCYL1
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| Mutation in the Scyl1 gene encoding amino-terminal kinase-like protein causes a recessive form of spinocerebellar neurodegeneration.
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| Schmidt WM, Kraus C, Höger H, Hochmeister S, Oberndorfer F, Branka M, Bingemann S, Lassmann H, Müller M, Macedo-Souza LI, Vainzof M, Zatz M, Reis A, Bittner RE.
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| EMBO Rep 8(7):691-7. Epub 2007 Jun 15. 2007
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