Below are the most recent publications written about "Hereditary Sensory and Autonomic Neuropathies" by people in Profiles.
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Yang H, Brown RH, Wang D, Strauss KA, Gao G. AAV-Mediated Gene Therapy for Glycosphingolipid Biosynthesis Deficiencies. Trends Mol Med. 2021 06; 27(6):520-523.
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Fridman V, Suriyanarayanan S, Novak P, David W, Macklin EA, McKenna-Yasek D, Walsh K, Aziz-Bose R, Oaklander AL, Brown R, Hornemann T, Eichler F. Randomized trial of l-serine in patients with hereditary sensory and autonomic neuropathy type 1. Neurology. 2019 01 22; 92(4):e359-e370.
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Alecu I, Tedeschi A, Behler N, Wunderling K, Lamberz C, Lauterbach MA, Gaebler A, Ernst D, Van Veldhoven PP, Al-Amoudi A, Latz E, Othman A, Kuerschner L, Hornemann T, Bradke F, Thiele C, Penno A. Localization of 1-deoxysphingolipids to mitochondria induces mitochondrial dysfunction. J Lipid Res. 2017 01; 58(1):42-59.
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Fridman V, Oaklander AL, David WS, Johnson EA, Pan J, Novak P, Brown RH, Eichler FS. Natural history and biomarkers in hereditary sensory neuropathy type 1. Muscle Nerve. 2015 Apr; 51(4):489-95.
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Garofalo K, Penno A, Schmidt BP, Lee HJ, Frosch MP, von Eckardstein A, Brown RH, Hornemann T, Eichler FS. Oral L-serine supplementation reduces production of neurotoxic deoxysphingolipids in mice and humans with hereditary sensory autonomic neuropathy type 1. J Clin Invest. 2011 Dec; 121(12):4735-45.
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Penno A, Reilly MM, Houlden H, Laur? M, Rentsch K, Niederkofler V, Stoeckli ET, Nicholson G, Eichler F, Brown RH, von Eckardstein A, Hornemann T. Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids. J Biol Chem. 2010 Apr 09; 285(15):11178-87.
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Eichler FS, Hornemann T, McCampbell A, Kuljis D, Penno A, Vardeh D, Tamrazian E, Garofalo K, Lee HJ, Kini L, Selig M, Frosch M, Gable K, von Eckardstein A, Woolf CJ, Guan G, Harmon JM, Dunn TM, Brown RH. Overexpression of the wild-type SPT1 subunit lowers desoxysphingolipid levels and rescues the phenotype of HSAN1. J Neurosci. 2009 Nov 18; 29(46):14646-51.
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McCampbell A, Truong D, Broom DC, Allchorne A, Gable K, Cutler RG, Mattson MP, Woolf CJ, Frosch MP, Harmon JM, Dunn TM, Brown RH. Mutant SPTLC1 dominantly inhibits serine palmitoyltransferase activity in vivo and confers an age-dependent neuropathy. Hum Mol Genet. 2005 Nov 15; 14(22):3507-21.
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Bejaoui K, Uchida Y, Yasuda S, Ho M, Nishijima M, Brown RH, Holleran WM, Hanada K. Hereditary sensory neuropathy type 1 mutations confer dominant negative effects on serine palmitoyltransferase, critical for sphingolipid synthesis. J Clin Invest. 2002 Nov; 110(9):1301-8.