Fischel-Ghodsian N - Search Results

1

Partial activity is seen with many substitutions of highly conserved active site residues in human Pseudouridine synthase 1.

Sibert BS, Fischel-Ghodsian N, Patton JR. Sibert BS, et al. Among authors: fischel ghodsian n. RNA. 2008 Sep;14(9):1895-906. doi: 10.1261/rna.984508. Epub 2008 Jul 22. RNA. 2008. PMID: 18648068 Free PMC article.

2

Mitochondrial myopathy and sideroblastic anemia (MLASA): missense mutation in the pseudouridine synthase 1 (PUS1) gene is associated with the loss of tRNA pseudouridylation.

Patton JR, Bykhovskaya Y, Mengesha E, Bertolotto C, Fischel-Ghodsian N. Patton JR, et al. J Biol Chem. 2005 May 20;280(20):19823-8. doi: 10.1074/jbc.M500216200. Epub 2005 Mar 16. J Biol Chem. 2005. PMID: 15772074 Free article.

3

Pseudouridine synthase 1 deficient mice, a model for Mitochondrial Myopathy with Sideroblastic Anemia, exhibit muscle morphology and physiology alterations.

Mangum JE, Hardee JP, Fix DK, Puppa MJ, Elkes J, Altomare D, Bykhovskaya Y, Campagna DR, Schmidt PJ, Sendamarai AK, Lidov HG, Barlow SC, Fischel-Ghodsian N, Fleming MD, Carson JA, Patton JR. Mangum JE, et al. Among authors: fischel ghodsian n. Sci Rep. 2016 May 20;6:26202. doi: 10.1038/srep26202. Sci Rep. 2016. PMID: 27197761 Free PMC article.

4

Pus3p- and Pus1p-dependent pseudouridylation of steroid receptor RNA activator controls a functional switch that regulates nuclear receptor signaling.

Zhao X, Patton JR, Ghosh SK, Fischel-Ghodsian N, Shen L, Spanjaard RA. Zhao X, et al. Among authors: fischel ghodsian n. Mol Endocrinol. 2007 Mar;21(3):686-99. doi: 10.1210/me.2006-0414. Epub 2006 Dec 14. Mol Endocrinol. 2007. PMID: 17170069

5

Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA).

Bykhovskaya Y, Casas K, Mengesha E, Inbal A, Fischel-Ghodsian N. Bykhovskaya Y, et al. Am J Hum Genet. 2004 Jun;74(6):1303-8. doi: 10.1086/421530. Epub 2004 Apr 22. Am J Hum Genet. 2004. PMID: 15108122 Free PMC article.

6

Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) gene.

Sue CM, Tanji K, Hadjigeorgiou G, Andreu AL, Nishino I, Krishna S, Bruno C, Hirano M, Shanske S, Bonilla E, Fischel-Ghodsian N, DiMauro S, Friedman R. Sue CM, et al. Neurology. 1999 Jun 10;52(9):1905-8. doi: 10.1212/wnl.52.9.1905. Neurology. 1999. PMID: 10371545

7

Gene responsible for mitochondrial myopathy and sideroblastic anemia (MSA) maps to chromosome 12q24.33.

Casas K, Bykhovskaya Y, Mengesha E, Wang D, Yang H, Taylor K, Inbal A, Fischel-Ghodsian N. Casas K, et al. Am J Med Genet A. 2004 May 15;127A(1):44-49. doi: 10.1002/ajmg.a.20652. Am J Med Genet A. 2004. PMID: 15103716

8

Human mitochondrial transcription factor B1 as a modifier gene for hearing loss associated with the mitochondrial A1555G mutation.

Bykhovskaya Y, Mengesha E, Wang D, Yang H, Estivill X, Shohat M, Fischel-Ghodsian N. Bykhovskaya Y, et al. Mol Genet Metab. 2004 May;82(1):27-32. doi: 10.1016/j.ymgme.2004.01.020. Mol Genet Metab. 2004. PMID: 15110318

9

Phenotype of non-syndromic deafness associated with the mitochondrial A1555G mutation is modulated by mitochondrial RNA modifying enzymes MTO1 and GTPBP3.

Bykhovskaya Y, Mengesha E, Wang D, Yang H, Estivill X, Shohat M, Fischel-Ghodsian N. Bykhovskaya Y, et al. Mol Genet Metab. 2004 Nov;83(3):199-206. doi: 10.1016/j.ymgme.2004.07.009. Mol Genet Metab. 2004. PMID: 15542390

10

Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations.

Guan MX, Yan Q, Li X, Bykhovskaya Y, Gallo-Teran J, Hajek P, Umeda N, Zhao H, Garrido G, Mengesha E, Suzuki T, del Castillo I, Peters JL, Li R, Qian Y, Wang X, Ballana E, Shohat M, Lu J, Estivill X, Watanabe K, Fischel-Ghodsian N. Guan MX, et al. Among authors: fischel ghodsian n. Am J Hum Genet. 2006 Aug;79(2):291-302. doi: 10.1086/506389. Epub 2006 Jun 22. Am J Hum Genet. 2006. PMID: 16826519 Free PMC article.

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