Torin 1 partially corrects vigabatrin-induced mitochondrial increase in mouse

Por Vogel, Kara R, Ainslie, Garrett R, Jansen, Erwin E W, Salomons, Gajja S, Gibson, K Michael
Publicado no Ann Clin Transl Neurol (2015)

In vitro modeling of experimental succinic semialdehyde dehydrogenase deficiency (SSADHD) using brain-derived neural stem cells

Por Vogel, Kara R., Ainslie, Garrett R., Jansen, Erwin E., Salomons, Gajja S., Roullet, Jean-Baptiste, Gibson, K. Michael
Publicado no PLoS One (2017)

Guanidinoacetate Methyltransferase Activity in Lymphocytes, for a Fast Diagnosis

Por Berends, Lisette M., Struys, Eduard A., Roos, Birthe, Holwerda, Ulbe, Jansen, Erwin E. W., Salomons, Gajja S., Wamelink, Mirjam M. C.
Publicado no JIMD Rep (2017)

Plant d-2-Hydroxyglutarate Dehydrogenase Participates in the Catabolism of Lysine Especially during Senescence

Por Engqvist, Martin K. M., Kuhn, Anke, Wienstroer, Judith, Weber, Katrin, Jansen, Erwin E. W., Jakobs, Cornelis, Weber, Andreas P. M., Maurino, Veronica G.
Publicado em 2011

Enantiomer-specific and paracrine leukemogenicity of mutant IDH metabolite 2-hydroxyglutarate

Por Chaturvedi, Anuhar, Araujo Cruz, Michelle Maria, Jyotsana, Nidhi, Sharma, Amit, Goparaju, Ramya, Schwarzer, Adrian, Görlich, Kerstin, Schottmann, Renate, Struys, Eduard A., Jansen, Erwin E., Rohde, Christian, Müller-Tidow, Carsten, Geffers, Robert, Göhring, Gudrun, Ganser, Arnold, Thol, Felicitas, Heuser, Michael
Publicado no Leukemia (2016)

An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants

Por Pop, Ana, Williams, Monique, Struys, Eduard A., Monné, Magnus, Jansen, Erwin E. W., De Grassi, Anna, Kanhai, Warsha A., Scarcia, Pasquale, Ojeda, Matilde R. Fernandez, Porcelli, Vito, van Dooren, Silvy J. M., Lennertz, Pascal, Nota, Benjamin, Abdenur, Jose E., Coman, David, Das, Anibh Martin, El-Gharbawy, Areeg, Nuoffer, Jean-Marc, Polic, Branka, Santer, René, Weinhold, Natalie, Zuccarelli, Britton, Palmieri, Ferdinando, Palmieri, Luigi, Salomons, Gajja S.
Publicado no J Inherit Metab Dis (2017)

A small molecule inhibitor of mutant IDH2 rescues cardiomyopathy in a D-2-hydroxyglutaric aciduria type II mouse model

Por Wang, Fang, Travins, Jeremy, Lin, Zhizhong, Si, Yaguang, Chen, Yue, Powe, Josh, Murray, Stuart, Zhu, Dongwei, Artin, Erin, Gross, Stefan, Santiago, Stephanie, Steadman, Mya, Kernytsky, Andrew, Straley, Kimberly, Lu, Chenming, Pop, Ana, Struys, Eduard A., Jansen, Erwin E. W., Salomons, Gajja S., David, Muriel D., Quivoron, Cyril, Penard-Lacronique, Virginie, Regan, Karen S., Liu, Wei, Dang, Lenny, Yang, Hua, Silverman, Lee, Agresta, Samuel, Dorsch, Marion, Biller, Scott, Yen, Katharine, Cang, Yong, Su, Shin-San Michael, Jin, Shengfang
Publicado no J Inherit Metab Dis (2016)

Deficiency in SLC25A1, Encoding the Mitochondrial Citrate Carrier, Causes Combined D-2- and L-2-Hydroxyglutaric Aciduria

Por Nota, Benjamin, Struys, Eduard A., Pop, Ana, Jansen, Erwin E., Fernandez Ojeda, Matilde R., Kanhai, Warsha A., Kranendijk, Martijn, van Dooren, Silvy J.M., Bevova, Marianna R., Sistermans, Erik A., Nieuwint, Aggie W.M., Barth, Magalie, Ben-Omran, Tawfeg, Hoffmann, Georg F., de Lonlay, Pascale, McDonald, Marie T., Meberg, Alf, Muntau, Ania C., Nuoffer, Jean-Marc, Parini, Rossella, Read, Marie-Hélène, Renneberg, Axel, Santer, René, Strahleck, Thomas, van Schaftingen, Emile, van der Knaap, Marjo S., Jakobs, Cornelis, Salomons, Gajja S.
Publicado em 2013