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NATHAN FISCHEL-GHODSIAN, M.D.
M.D.
Specialist
NPI: 1871551093Individual
Specialties, Licenses & Credentials
SpecialistPrimary
Specialist
Code: 174400000X
A45572(CA)
Research & Publications (20)
Gene responsible for mitochondrial myopathy and sideroblastic anemia (MSA) maps to chromosome 12q24.33.
PMID 15103716·Am J Med Genet A·2004
5-case
Phenotypic expression of maternally inherited deafness is affected by RNA modification and cytoplasmic ribosomal proteins.
PMID 19482502·Mol Genet Metab·2009
8-other
Partial activity is seen with many substitutions of highly conserved active site residues in human Pseudouridine synthase 1.
PMID 18648068·RNA·2008
7-preclinical
MRPS18CP2 alleles and DEFA3 absence as putative chromosome 8p23.1 modifiers of hearing loss due to mtDNA mutation A1555G in the 12S rRNA gene.
PMID 18154640·BMC Med Genet·2007
8-other
Pleiotropic effects and compensation mechanisms determine tissue specificity in mitochondrial myopathy and sideroblastic anemia (MLASA).
PMID 17374500·Mol Genet Metab·2007
7-preclinical
Pus3p- and Pus1p-dependent pseudouridylation of steroid receptor RNA activator controls a functional switch that regulates nuclear receptor signaling.
PMID 17170069·Mol Endocrinol·2007
7-preclinical
Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations.
PMID 16826519·Am J Hum Genet·2006
8-other
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.
PMID 16513084·Biochem Biophys Res Commun·2006
8-other
Biochemical characterization of the deafness-associated mitochondrial tRNASer(UCN) A7445G mutation in osteosarcoma cell cybrids.
PMID 15694374·Biochem Biophys Res Commun·2005
8-other
Mitochondrial myopathy, sideroblastic anemia, and lactic acidosis: an autosomal recessive syndrome in Persian Jews caused by a mutation in the PUS1 gene.
PMID 15971356·J Child Neurol·2005
5-case
Mitochondrial myopathy and sideroblastic anemia (MLASA): missense mutation in the pseudouridine synthase 1 (PUS1) gene is associated with the loss of tRNA pseudouridylation.
PMID 15772074·J Biol Chem·2005
8-other
mt-Nd2 Allele of the ALR/Lt mouse confers resistance against both chemically induced and autoimmune diabetes.
PMID 15692809·Diabetologia·2005
7-preclinical
Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA).
PMID 15108122·Am J Hum Genet·2004
8-other
Phenotype of non-syndromic deafness associated with the mitochondrial A1555G mutation is modulated by mitochondrial RNA modifying enzymes MTO1 and GTPBP3.
PMID 15542390·Mol Genet Metab·2004
4-observational
Human mitochondrial transcription factor B1 as a modifier gene for hearing loss associated with the mitochondrial A1555G mutation.
PMID 15110318·Mol Genet Metab·2004
8-other
Genetic influences on the increase in blood pressure with age in normotensive subjects in Barbados.
PMID 15002924·Ethn Dis·2004
4-observational
Data courtesy of the U.S. National Library of Medicine (NLM). Ltrl is not affiliated with or endorsed by NLM.
Contact & Hours
- Address
- 8700 BEVERLY BLVD.
LOS ANGELES, CA 90048 - Phone
- (310) 967-1884
Quick Facts
- NPI
- 1871551093
- Entity Type
- Individual
- Gender
- Male
- Medicare
- Not confirmed
- Specialties
- 1
- Locations
- 1
- Publications
- 20
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