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Nathan Fischel-Ghodsian

Cedars-Sinai Medical Center
University of California, Los Angeles

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

2016 Scientific Reports
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Inflammatory Attacks and Amyloidosis Familial Mediterranean Fever: Effects of Genotype and Ethnicity on

2013
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A mouse model of mitochondrial myopathy and sideroblastic anemia

2013 Mitochondrion
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Partial activity is seen with many substitutions of highly conserved active site residues in human Pseudouridine synthase 1

2008 RNA
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Pus3p- and Pus1p-Dependent Pseudouridylation of Steroid Receptor RNA Activator Controls a Functional Switch that Regulates Nuclear Receptor Signaling

2007 Molecular Endocrinology
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Pleiotropic Effects and Compensation Mechanisms Determine Tissue Specificity in Mitochondrial Myopathy and Sideroblastic Anemia (MLASA)

2007 Molecular Genetics and Metabolism
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MRPS18CP2 alleles and DEFA3 absence as putative chromosome 8p23.1 modifiers of hearing loss due to mtDNA mutation A1555G in the 12S rRNA gene

2007 BMC Medical Genetics
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Molecular and genetic aspects of aminoglycoside-induced hearing loss

2006 Drug Discovery Today: Disease Mechanisms
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Human TRMU encoding the mitochondrial 5-methylaminomethyl-2-thiouridylate-methyltransferase is a putative nuclear modifier gene for the phenotypic expression of the deafness-associated 12S rRNA mutations.

2006 Biochemical and Biophysical Research Communications
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Mutation in TRMU Related to Transfer RNA Modification Modulates the Phenotypic Expression of the Deafness-Associated Mitochondrial 12S Ribosomal RNA Mutations

2006 American Journal of Human Genetics
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