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Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation.
Jansen AC, Sancak O, D'Agostino MD, Badhwar A, Roberts P, Gobbi G, Wilkinson R, Melanson D, Tampieri D, Koenekoop R, Gans M, Maat-Kievit A, Goedbloed M, van den Ouweland AMW, Nellist M, Pandolfo M, McQueen M, Sims K, Thiele EA, Dubeau F, Andermann F, Kwiatkowski DJ, Halley DJJ, Andermann E. Jansen AC, et al. Among authors: sancak o. Ann Neurol. 2006 Nov;60(5):528-539. doi: 10.1002/ana.21037. Ann Neurol. 2006. PMID: 17120248
Large deletion at the TSC1 locus in a family with tuberous sclerosis complex.
Nellist M, Sancak O, Goedbloed MA, van Veghel-Plandsoen M, Maat-Kievit A, Lindhout D, Eussen BH, de Klein A, Halley DJ, van den Ouweland AM. Nellist M, et al. Among authors: sancak o. Genet Test. 2005 Fall;9(3):226-30. doi: 10.1089/gte.2005.9.226. Genet Test. 2005. PMID: 16225402
A combination of lipoic acid plus coenzyme Q10 induces PGC1α, a master switch of energy metabolism, improves stress response, and increases cellular glutathione levels in cultured C2C12 skeletal muscle cells.
Wagner AE, Ernst IM, Birringer M, Sancak O, Barella L, Rimbach G. Wagner AE, et al. Among authors: sancak o. Oxid Med Cell Longev. 2012;2012:835970. doi: 10.1155/2012/835970. Epub 2012 May 9. Oxid Med Cell Longev. 2012. PMID: 22655115 Free PMC article.
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