| 1 | FA2H, SPG35
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| A rare family with Hereditary Spastic Paraplegia Type 35 due to novel FA2H mutations: A case report with literature review.
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| Cao L, Huang XJ, Chen CJ, Chen SD.
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| J Neurol Sci. 2013
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| 2 | FA2H
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| Fatty acid 2-hydroxylase mediates diffusional mobility of Raft-associated lipids, GLUT4 level, and lipogenesis in 3T3-L1 adipocytes.
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| Guo L, Zhou D, Pryse KM, Okunade AL, Su X.
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| J Biol Chem 285(33):25438-47. Epub 2010 Jun 2.PMID: 20519515 2010
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| 3 | FA2H, SPG35
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| Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35).
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| Dick KJ, Eckhardt M, Paisán-Ruiz C, Alshehhi AA, Proukakis C, Sibtain NA, Maier H, Sharifi R, Patton MA, Bashir W, Koul R, Raeburn S, Gieselmann V, Houlden H, Crosby AH.
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| Hum Mutat 31(4):E1251-60.PMID: 20104589 2010
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| 4 | FA2H
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| Fatty acid 2-Hydroxylation in mammalian sphingolipid biology.
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| Hama H.
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| Biochim Biophys Acta 1801(4):405-14. Epub 2009 Dec 21. Review.PMID: 20026285 2010
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| 5 | FA2H
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| Fatty acid 2-hydroxylase regulates cAMP-induced cell cycle exit in D6P2T schwannoma cells.
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| Alderson NL, Hama H.
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| J Lipid Res 50(6):1203-8. Epub 2009 Jan 22.PMID: 19171550 2009
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| 6 | FA2H, SDWHD
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| Mutations in the Fatty Acid 2-Hydroxylase Gene are associated with leukodystrophy with Spatic Paraparesis and Dystonia.
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| Edvardson S, Hama H, Shaag, Gomori JM, Berger I, Soffer D, Korman SH, Taustein, Saada A, Elpeleg O.
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| Am J Hum Genet 83(5) : 643-648. 2008
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| 7 | FA2H
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| Absence of 2-hydroxylated sphingolipids is compatible with normal neural development but causes late-onset axon and myelin sheath degeneration.
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| Zöller I, Meixner M, Hartmann D, Büssow H, Meyer R, Gieselmann V, Eckhardt M.
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| J Neurosci 28(39):9741-54.PMID: 18815260 2008
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| 8 | FA2H
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| Fatty acid 2-hydroxylase, encoded by FA2H, accounts for differentiation-associated increase in 2-OH ceramides during keratinocyte differentiation.
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| Uchida Y, Hama H, Alderson NL, Douangpanya S, Wang Y, Crumrine DA, Elias PM, Holleran WM.
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| J Biol Chem. 282(18):13211-9. 2007
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| 9 | FA2H
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| A mammalian fatty acid hydroxylase responsible for the formation of alpha-hydroxylated galactosylceramide in myelin.
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| Eckhardt M, Yaghootfam A, Fewou SN, Zöller I, Gieselmann V.
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| Biochem J. 388(Pt 1):245-54 2005
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| 10 | FA2H
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| The human FA2H gene encodes a fatty acid 2-hydroxylase.
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| Alderson NL, Rembiesa BM, Walla MD, Bielawska A, Bielawski J, Hama H.
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| J Biol Chem 279(47):48562-8. Epub 2004 Aug 27. 2004
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