A novel mutation in SPART gene causes a severe neurodevelopmental delay due to mitochondrial dysfunction with complex I impairments and altered pyruvate metabolism.
Diquigiovanni C, Bergamini C, Diaz R, Liparulo I, Bianco F, Masin L, Baldassarro VA, Rizzardi N, Tranchina A, Buscherini F, Wischmeijer A, Pippucci T, Scarano E, Cordelli DM, Fato R, Seri M, Paracchini S, Bonora E.
Diquigiovanni C, et al. Among authors: paracchini s.
FASEB J. 2019 Oct;33(10):11284-11302. doi: 10.1096/fj.201802722R. Epub 2019 Aug 7.
FASEB J. 2019.
PMID: 31314595
A., Rizzardi, N., Tranchina, A., Buscherini, F., Wischmeijer, A., Pippucci, T., Scarano, E., Cordelli, D. M., Fato, R., Seri, M., Paracchini, S., Bonora, E. A novel mutation in SPART gene causes a severe neurodevelopmental delay due to mitochondrial dysfunction with …
A., Rizzardi, N., Tranchina, A., Buscherini, F., Wischmeijer, A., Pippucci, T., Scarano, E., Cordelli, D. M., Fato, R., Seri, M., Paracch …