Therapeutic relevance of mTOR inhibition in murine succinate semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolism

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• 作者：K.R. Vogel^a ; G.R. Ainslie^a ; E.E.W. Jansen^b ; G.S. Salomons^b ; K.M. Gibson^a ; ^{mike.gibson@wsu.edu}
• 关键词：GABA ; gamma-aminobutyric acid ; Tor 1 ; Torin 1 ; Tor 2 ; Torin 2 ; SSADH ; succinic semialdehyde dehydrogenase ; SSADHD ; succinic semialdehyde dehydrogenase deficiency ; aldh5a1 ; aldehyde dehydrogenase 5a1 (identical to succinic semialdehyde dehydrogenase)
• 刊名：Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
• 出版年：2017
• 出版时间：January 2017
• 年：2017
• 卷：1863
• 期：1
• 页码：33-42
• 全文大小：1557 K
• 卷排序：1863

文摘

Elevated GABA in aldh5a1−/− mice alters mTOR signaling and autophagy. mTOR inhibition improves dysregulated mTOR signaling in aldh5a1−/− mice. mTOR inhibition improves abnormalities of oxidative stress in aldh5a1−/− mice. Outcomes in adldh5a1−/− mice were optimal with the mTOR inhibitor, Torin 2. Torin 2 is therapeutically relevant in the GABA defect, SSADH deficiency.