9 results for author:"Haller R.G." in Literature citations
Results Customize
› Repeat search in UniProtKB (4)
| Tissue specificity of a human mitochondrial disease: differentiation-enhanced mis-splicing of the Fe-S scaffold gene ISCU renders patient cells more sensitive to oxidative stress in ISCU myopathy. Crooks D.R., Jeong S.Y., Tong W.H., Ghosh M.C., Olivierre H., Haller R.G., Rouault T.A. J. Biol. Chem. 287:40119-40130(2012) · Mapped (5) |
| Posttranslational stability of the heme biosynthetic enzyme ferrochelatase is dependent on iron availability and intact iron-sulfur cluster assembly machinery. Crooks D.R., Ghosh M.C., Haller R.G., Tong W.H., Rouault T.A. Blood 115:860-869(2010) · Mapped (16) |
| A heterozygous truncating mutation in RRM2B causes autosomal-dominant progressive external ophthalmoplegia with multiple mtDNA deletions. Tyynismaa H., Ylikallio E., Patel M., Molnar M.J., Haller R.G., Suomalainen A. Am. J. Hum. Genet. 85:290-295(2009) · UniProtKB (1) · Mapped (2) |
| Mitochondrial abnormalities, energy deficit and oxidative stress are features of calpain 3 deficiency in skeletal muscle. Kramerova I., Kudryashova E., Wu B., Germain S., Vandenborne K., Romain N., Haller R.G., Verity M.A., Spencer M.J. Hum. Mol. Genet. 18:3194-3205(2009) · Mapped (14) |
| Splice mutations preserve myophosphorylase activity that ameliorates the phenotype in McArdle disease. Vissing J., Duno M., Schwartz M., Haller R.G. Brain 132:1545-1552(2009) · Mapped (4) |
| Isolated cytochrome c oxidase deficiency in G93A SOD1 mice overexpressing CCS protein. Son M., Leary S.C., Romain N., Pierrel F., Winge D.R., Haller R.G., Elliott J.L. J. Biol. Chem. 283:12267-12275(2008) · Mapped (4) |
| Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance. Mochel F., Knight M.A., Tong W.-H., Hernandez D., Ayyad K., Taivassalo T., Andersen P.M., Singleton A., Rouault T.A., Fischbeck K.H. et al. Am. J. Hum. Genet. 82:652-660(2008) · UniProtKB (2) · Mapped (3) |
| Hypoxia-inducible factor 2alpha regulates expression of the mitochondrial aconitase chaperone protein frataxin. Oktay Y., Dioum E., Matsuzaki S., Ding K., Yan L.J., Haller R.G., Szweda L.I., Garcia J.A. J. Biol. Chem. 282:11750-11756(2007) · Mapped (11) |
| Recurrent myoglobinuria due to a nonsense mutation in the COX I gene of mitochondrial DNA. Karadimas C.L., Greenstein P., Sue C.M., Joseph J.T., Tanji K., Haller R.G., Taivassalo T., Davidson M.M., Shanske S., Bonilla E. et al. Neurology 55:644-649(2000) · UniProtKB (1) |