Gene Review:
Fxn - frataxin
Mus musculus
Synonyms:
FA, FARR, Frataxin, mitochondrial, Frda, X25
- Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits. Puccio, H., Simon, D., Cossée, M., Criqui-Filipe, P., Tiziano, F., Melki, J., Hindelang, C., Matyas, R., Rustin, P., Koenig, M. Nat. Genet. (2001)
- Iron metabolism in mice with partial frataxin deficiency. Santos, M.M., Miranda, C.J., Levy, J.E., Montross, L.K., Cossée, M., Sequeiros, J., Andrews, N., Koenig, M., Pandolfo, M. Cerebellum (2003)
- Transdominant inhibition of herpes simplex virus growth in transgenic mice. Smith, C.A., DeLuca, N.A. Virology (1992)
- Frataxin deficiency in pancreatic islets causes diabetes due to loss of beta cell mass. Ristow, M., Mulder, H., Pomplun, D., Schulz, T.J., Müller-Schmehl, K., Krause, A., Fex, M., Puccio, H., Müller, J., Isken, F., Spranger, J., Müller-Wieland, D., Magnuson, M.A., Möhlig, M., Koenig, M., Pfeiffer, A.F. J. Clin. Invest. (2003)
- Frataxin activates mitochondrial energy conversion and oxidative phosphorylation. Ristow, M., Pfister, M.F., Yee, A.J., Schubert, M., Michael, L., Zhang, C.Y., Ueki, K., Michael, M.D., Lowell, B.B., Kahn, C.R. Proc. Natl. Acad. Sci. U.S.A. (2000)
- Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation. Cossée, M., Puccio, H., Gansmuller, A., Koutnikova, H., Dierich, A., LeMeur, M., Fischbeck, K., Dollé, P., Koenig, M. Hum. Mol. Genet. (2000)
- Targeted disruption of hepatic frataxin expression causes impaired mitochondrial function, decreased life span and tumor growth in mice. Thierbach, R., Schulz, T.J., Isken, F., Voigt, A., Mietzner, B., Drewes, G., von Kleist-Retzow, J.C., Wiesner, R.J., Magnuson, M.A., Puccio, H., Pfeiffer, A.F., Steinberg, P., Ristow, M. Hum. Mol. Genet. (2005)
- Idebenone delays the onset of cardiac functional alteration without correction of Fe-S enzymes deficit in a mouse model for Friedreich ataxia. Seznec, H., Simon, D., Monassier, L., Criqui-Filipe, P., Gansmuller, A., Rustin, P., Koenig, M., Puccio, H. Hum. Mol. Genet. (2004)
- Lymphokine-activated killer (LAK) cells. II. Delineation of distinct murine LAK-precursor subpopulations. Ballas, Z.K., Rasmussen, W., van Otegham, J.K. J. Immunol. (1987)
- Recognition of MOPC-460 variable region determinants by polyclonally distributed triggering receptors on B lymphocytes. Primi, D., Juy, D., Le Guern, C., Sanchez, P., Cazenave, P.A. J. Immunol. (1981)
- Deuterium oxide (heavy water) accelerates actin assembly in vitro and changes microfilament distribution in cultured cells. Omori, H., Kuroda, M., Naora, H., Takeda, H., Nio, Y., Otani, H., Tamura, K. Eur. J. Cell Biol. (1997)
- Friedreich ataxia mouse models with progressive cerebellar and sensory ataxia reveal autophagic neurodegeneration in dorsal root ganglia. Simon, D., Seznec, H., Gansmuller, A., Carelle, N., Weber, P., Metzger, D., Rustin, P., Koenig, M., Puccio, H. J. Neurosci. (2004)
- A mutation of the mu transmembrane that disrupts endoplasmic reticulum retention. Effects on association with accessory proteins and signal transduction. Stevens, T.L., Blum, J.H., Foy, S.P., Matsuuchi, L., DeFranco, A.L. J. Immunol. (1994)
- Friedreich ataxia: the oxidative stress paradox. Seznec, H., Simon, D., Bouton, C., Reutenauer, L., Hertzog, A., Golik, P., Procaccio, V., Patel, M., Drapier, J.C., Koenig, M., Puccio, H. Hum. Mol. Genet. (2005)
- Evaluation of an FRDA-EGFP genomic reporter assay in transgenic mice. Sarsero, J.P., Holloway, T.P., Li, L., McLenachan, S., Fowler, K.J., Bertoncello, I., Voullaire, L., Gazeas, S., Ioannou, P.A. Mamm. Genome (2005)