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» Authors » Nathan Fischel-Ghodsian

Nathan Fischel-Ghodsian

Explore the profile of Nathan Fischel-Ghodsian including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 28
Citations 922
Followers 0
Related Specialties
Genetics
Endocrinology
Biochemistry
Top 10 Co-Authors
Yelena Bykhovskaya
Emebet Mengesha
Xavier Estivill
Huiying Yang
Jeffrey R Patton
Min-Xin Guan
Dai Wang
Mordechai Shohat
Kari Casas
Xiaoming Li
Published In
Mol Genet Metab
Am J Hum Genet
Hear Res
Biochem Biophys Res Commun
Genet Med
Affiliations
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Recent Articles
1.
Pseudouridine synthase 1 deficient mice, a model for Mitochondrial Myopathy with Sideroblastic Anemia, exhibit muscle morphology and physiology alterations
Mangum J, Hardee J, Fix D, Puppa M, Elkes J, Altomare D, et al.
Sci Rep . 2016 May; 6:26202. PMID: 27197761
Mitochondrial myopathy with lactic acidosis and sideroblastic anemia (MLASA) is an oxidative phosphorylation disorder, with primary clinical manifestations of myopathic exercise intolerance and a macrocytic sideroblastic anemia. One cause of...
2.
Phenotypic expression of maternally inherited deafness is affected by RNA modification and cytoplasmic ribosomal proteins
Bykhovskaya Y, Mengesha E, Fischel-Ghodsian N
Mol Genet Metab . 2009 Jun; 97(4):297-304. PMID: 19482502
The homoplasmic mitochondrial A1555G mutation in the 12S rRNA gene leads to a mitochondrial translation disorder associated with deafness. The absence of disease in non-cochlear tissues in all patients, and...
3.
Partial activity is seen with many substitutions of highly conserved active site residues in human Pseudouridine synthase 1
Sibert B, Fischel-Ghodsian N, Patton J
RNA . 2008 Jul; 14(9):1895-906. PMID: 18648068
Pseudouridine synthase 1 (Pus1p) is an enzyme that converts uridine to Pseudouridine (Psi) in tRNA and other RNAs in eukaryotes. The active site of Pus1p is composed of stretches of...
4.
MRPS18CP2 alleles and DEFA3 absence as putative chromosome 8p23.1 modifiers of hearing loss due to mtDNA mutation A1555G in the 12S rRNA gene
Ballana E, Mercader J, Fischel-Ghodsian N, Estivill X
BMC Med Genet . 2007 Dec; 8:81. PMID: 18154640
Background: Mitochondrial DNA (mtDNA) mutations account for at least 5% of cases of postlingual, nonsyndromic hearing impairment. Among them, mutation A1555G is frequently found associated with aminoglycoside-induced and/or nonsyndromic hearing...
5.
Pleiotropic effects and compensation mechanisms determine tissue specificity in mitochondrial myopathy and sideroblastic anemia (MLASA)
Bykhovskaya Y, Mengesha E, Fischel-Ghodsian N
Mol Genet Metab . 2007 Mar; 91(2):148-56. PMID: 17374500
The tissue specificity of mitochondrial diseases is poorly understood. Recently, tissue-specific quantitative differences of the components of the mitochondrial translation system have been found to correlate with disease presentation in...
6.
Pus3p- and Pus1p-dependent pseudouridylation of steroid receptor RNA activator controls a functional switch that regulates nuclear receptor signaling
Zhao X, Patton J, Ghosh S, Fischel-Ghodsian N, Shen L, Spanjaard R
Mol Endocrinol . 2006 Dec; 21(3):686-99. PMID: 17170069
It was previously shown that mouse Pus1p (mPus1p), a pseudouridine synthase (PUS) known to modify certain transfer RNAs (tRNAs), can also bind with nuclear receptors (NRs) and function as a...
7.
Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations
Guan M, Yan Q, Li X, Bykhovskaya Y, Gallo-Teran J, Hajek P, et al.
Am J Hum Genet . 2006 Jul; 79(2):291-302. PMID: 16826519
The human mitochondrial 12S ribosomal RNA (rRNA) A1555G mutation has been associated with aminoglycoside-induced and nonsyndromic deafness in many families worldwide. Our previous investigation revealed that the A1555G mutation is...
8.
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
Yan Q, Bykhovskaya Y, Li R, Mengesha E, Shohat M, Estivill X, et al.
Biochem Biophys Res Commun . 2006 Mar; 342(4):1130-6. PMID: 16513084
Nuclear modifier genes have been proposed to modulate the phenotypic manifestation of human mitochondrial 12S rRNA A1491G mutation associated with deafness in many families world-wide. Here we identified and characterized...
9.
Mitochondrial dysfunction in hearing loss
Fischel-Ghodsian N, Kopke R, Ge X
Mitochondrion . 2005 Aug; 4(5-6):675-94. PMID: 16120424
Mitochondrial pathology plays an important role in both inherited and acquired hearing loss. Inherited mitochondrial DNA mutations have been implicated in both syndromic and non-syndromic hearing loss, as well as...
10.
Quantification of total mitochondrial DNA and the 4977-bp common deletion in Pearson's syndrome lymphoblasts using a fluorogenic 5'-nuclease (TaqMan) real-time polymerase chain reaction assay and plasmid external calibration standards
Pogozelski W, Hamel C, Woeller C, Jackson W, Zullo S, Fischel-Ghodsian N, et al.
Mitochondrion . 2005 Aug; 2(6):415-27. PMID: 16120337
This study describes a multiplex real-time polymerase chain reaction (PCR) assay that quantifies total mitochondrial DNA (mtDNA(total)) and mtDNA bearing the 4977-base pair 'common deletion' (deltamtDNA4977) in lymphoblasts derived from...