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Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency.
Arribas-Carreira L, Dallabona C, Swanson MA, Farris J, Østergaard E, Tsiakas K, Hempel M, Aquaviva-Bourdain C, Koutsoukos S, Stence NV, Magistrati M, Spector EB, Kronquist K, Christensen M, Karstensen HG, Feichtinger RG, Achleitner MT, Lawrence Merritt Ii J, Pérez B, Ugarte M, Grünewald S, Riela AR, Julve N, Arnoux JB, Haldar K, Donnini C, Santer R, Lund AM, Mayr JA, Rodriguez-Pombo P, Van Hove JLK. Arribas-Carreira L, et al. Among authors: feichtinger rg. Hum Mol Genet. 2023 Mar 6;32(6):917-933. doi: 10.1093/hmg/ddac246. Hum Mol Genet. 2023. PMID: 36190515 Free PMC article.
Triple Therapy with Metformin, Ketogenic Diet, and Metronomic Cyclophosphamide Reduced Tumor Growth in MYCN-Amplified Neuroblastoma Xenografts.
Catalano L, Aminzadeh-Gohari S, Weber DD, Poupardin R, Stefan VE, Smiles WJ, Tevini J, Feichtinger RG, Derdak S, Bilban M, Bareswill S, Heimesaat MM, Kofler B. Catalano L, et al. Among authors: feichtinger rg. Metabolites. 2023 Aug 3;13(8):910. doi: 10.3390/metabo13080910. Metabolites. 2023. PMID: 37623854 Free PMC article.
Lack of complex I is associated with oncocytic thyroid tumours.
Zimmermann FA, Mayr JA, Neureiter D, Feichtinger R, Alinger B, Jones ND, Eder W, Sperl W, Kofler B. Zimmermann FA, et al. Br J Cancer. 2009 May 5;100(9):1434-7. doi: 10.1038/sj.bjc.6605028. Epub 2009 Apr 7. Br J Cancer. 2009. PMID: 19352385 Free PMC article.
Loss of mitochondria in ganglioneuromas.
Feichtinger RG, Neureiter D, Mayr JA, Zimmermann FA, Berthold F, Jones N, Sperl W, Kofler B. Feichtinger RG, et al. Front Biosci (Elite Ed). 2011 Jan 1;3(1):179-86. doi: 10.2741/e231. Front Biosci (Elite Ed). 2011. PMID: 21196296 Free article.
111 results