Nathan Fischel‐Ghodsian

Cedars-Sinai Medical Center — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

52h-index9.1kcitations127works0.02yr avg
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Research Topics

Mitochondrial Function and Pathology(57), RNA and protein synthesis mechanisms(28), Hearing, Cochlea, Tinnitus, Genetics(25), Metabolism and Genetic Disorders(24), RNA modifications and cancer(23)

Publications127 total

Pseudouridine synthase 1 deficient mice, a model for Mitochondrial Myopathy with Sideroblastic Anemia, exhibit muscle morphology and physiology alterations
Scientific Reports·2016· 43 citedOpen Access
A mouse model of mitochondrial myopathy and sideroblastic anemia
Mitochondrion·2013
Alleles and absence as putative chromosome 8p23.1 modifiers of hearing loss due to mtDNA mutation A1555G in the 12S rRNA gene-3
Figshare·2011Open Access
Alleles and absence as putative chromosome 8p23.1 modifiers of hearing loss due to mtDNA mutation A1555G in the 12S rRNA gene-1
Figshare·2011Open Access
Alleles and absence as putative chromosome 8p23.1 modifiers of hearing loss due to mtDNA mutation A1555G in the 12S rRNA gene-2
Figshare·2011Open Access
Alleles and absence as putative chromosome 8p23.1 modifiers of hearing loss due to mtDNA mutation A1555G in the 12S rRNA gene-0
Figshare·2011Open Access
Phenotypic expression of maternally inherited deafness is affected by RNA modification and cytoplasmic ribosomal proteins
Molecular Genetics and Metabolism·2009· 12 cited
Partial activity is seen with many substitutions of highly conserved active site residues in human Pseudouridine synthase 1
RNA·2008· 22 citedOpen Access
MRPS18CP2 alleles and DEFA3absence as putative chromosome 8p23.1 modifiers of hearing loss due to mtDNA mutation A1555G in the 12S rRNA gene
BMC Medical Genetics·2007· 12 citedOpen Access
A genome-wide search identifies potential new susceptibility loci for Crohn's disease
Inflammatory Bowel Diseases·2007· 54 cited
Pleiotropic effects and compensation mechanisms determine tissue specificity in mitochondrial myopathy and sideroblastic anemia (MLASA)
Molecular Genetics and Metabolism·2007· 20 citedOpen Access
Pus3p- and Pus1p-Dependent Pseudouridylation of Steroid Receptor RNA Activator Controls a Functional Switch that Regulates Nuclear Receptor Signaling
Molecular Endocrinology·2006· 69 cited
Mutation in TRMU Related to Transfer RNA Modification Modulates the Phenotypic Expression of the Deafness-Associated Mitochondrial 12S Ribosomal RNA Mutations
The American Journal of Human Genetics·2006· 222 citedOpen Access
Hearing Loss and Mitochondrial DNA Mutations: Clinical Implications and Biological Lessons
Springer handbook of auditory research·2006· 4 cited
Molecular and genetic aspects of aminoglycoside-induced hearing loss
Drug Discovery Today Disease Mechanisms·2006· 11 cited
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
Biochemical and Biophysical Research Communications·2006· 36 cited
Cu/Zn superoxide dismutase and age-related hearing loss
Hearing Research·2005· 135 citedOpen Access
Mitochondrial Myopathy, Sideroblastic Anemia, and Lactic Acidosis: An Autosomal Recessive Syndrome in Persian Jews Caused by a Mutation in the PUS1 Gene
Journal of Child Neurology·2005· 77 cited
Mitochondrial Myopathy and Sideroblastic Anemia (MLASA)
Journal of Biological Chemistry·2005· 149 citedOpen Access
mt-Nd2 Allele of the ALR/Lt mouse confers resistance against both chemically induced and autoimmune diabetes
Diabetologia·2005· 42 citedOpen Access
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Frequent Co-authors

Yelena Bykhovskaya(14), Toni R. Prezant(7), Jerome I. Rotter(7), Mordechai Shohat(5), Rosaria A.M.S. Casano(5), David Johnson(5), Kent D. Taylor(5), Douglas R. Higgs(4), Emebet Mengesha(4), Xavier Estivill(4), Mélanie Hamon(4), Lutfi Jaber(3), Mordechai Shohat(3), Stephan R. Targan(3), Huiying Yang(3), Marion A. Maw(3), Xiangdong Bu(3), Qing Yin Zheng(3), Elizabeth M. Keithley(3), Carlos A. Bacino(3)