Cassandra Obie
Johns Hopkins University(US)Johns Hopkins Medicine(US)
Publications by Year
Research Areas
Peroxisome Proliferator-Activated Receptors, Metabolism and Genetic Disorders, Amino Acid Enzymes and Metabolism, RNA Research and Splicing, RNA regulation and disease
Most-Cited Works
- → Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata(1997)445 cited
- → Mutations in the gene encoding 3β- hydroxysteroid-Δ8,Δ7- isomerase cause X-linked dominant Conradi-Hünermann syndrome(1999)285 cited
- → Expression of PEX11β Mediates Peroxisome Proliferation in the Absence of Extracellular Stimuli(1998)263 cited
- → Hyperornithinaemia- hyperammonaemia- homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter(1999)205 cited
- → Splice-mediated insertion of an Alu sequence inactivates ornithine delta-aminotransferase: a role for Alu elements in human mutation.(1991)136 cited
- → Mutation analysis ofPEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype(2002)132 cited
- → The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency(2001)117 cited
- → Ornithine delta-aminotransferase mutations in gyrate atrophy. Allelic heterogeneity and functional consequences.(1992)116 cited
- → Overexpression of proline oxidase induces proline-dependent and mitochondria-mediated apoptosis(2006)106 cited
- → Molecular Enzymology of Mammalian Δ1-Pyrroline-5-carboxylate Synthase(1999)100 cited