Zobrazeno 1 - 10
of 27
pro vyhledávání: '"Cassandra Obie"'
Autor:
Pei-Lung Chen, Mikhail V. Pletnikov, Lindsay N. Hayes, Cassandra Obie, Ann E. Pulver, David Valle, A. V. Shevelkin, Gary Steel, Mariela Zeledon, Dimitrios Avramopoulos, Akira Sawa
Publikováno v:
Complex Psychiatry. 2:79-87
Neuregulin 3 (NRG3) is a paralog of NRG1. Genetic studies in schizophrenia demonstrate that risk variants in NRG3 are associated with cognitive and psychotic symptom severity, and several intronic single nucleotide polymorphisms in NRG3 are associate
Autor:
Cassandra Obie, Lilei Zhang, David Valle, Fatima Abidi, Tao Wang, Charles E. Schwartz, Roger E. Stevenson, Chunfa Jie
Publikováno v:
Genome Research. 17:641-648
X-linked Mental Retardation (XLMR) occurs in 1 in 600 males and is highly genetically heterogeneous. We used a novel human X chromosome cDNA microarray (XCA) to survey the expression profile of X-linked genes in lymphoblasts of XLMR males. Genes with
Autor:
Koko Ishizuka, Akira Sawa, Srona Sengupta, Shin Ichi Kano, Cassandra Obie, Mari Kondo, Minori Koga, Amedeo Primerano, Eleonora Passeri, Judith L. Rapoport, Fernando S. Goes, Ashley M. Wilson, Peter P. Zandi, David Valle, Rupali Srivastava
Publikováno v:
Neuroscience research. 101
The novel technology of induced neuronal cells (iN cells) is promising for translational neuroscience, as it allows the conversion of human fibroblasts into cells with postmitotic neuronal traits. However, a major technical barrier is the low convers
Autor:
Stephen Jay Gould, Cassandra Obie, Ivelisse Cajigas, James C. Morrell, Gary Steel, David Valle, Sabine Weller
Publikováno v:
The American Journal of Human Genetics. 76:987-1007
Matsumoto and colleagues recently identified PEX26 as the gene responsible for complementation group 8 of the peroxisome biogenesis disorders and showed that it encodes an integral peroxisomal membrane protein with a single C-terminal transmembrane d
Autor:
P. Kamoun, Shlomo Almashanu, David Valle, Chien-An Andy Hu, Bernard Aral, Matthias R. Baumgartner, Cassandra Obie, D. Rabier, Gary Steel, Jean-Marie Saudubray
Publikováno v:
Human Molecular Genetics. 9:2853-2858
delta(1)-pyrroline-5-carboxylate synthase (P5CS), a bifunctional ATP- and NADPH-dependent mitochondrial enzyme, catalyzes the reduction of glutamate to delta(1)-pyrroline-5-carboxylate, a critical step in the biosynthesis of proline, ornithine and ar
Autor:
Cassandra Obie, Hartmut Glossmann, William R. Wilcox, David Valle, Nancy Braverman, David L. Rimoin, Richard I. Kelley, Lisa E. Kratz, Fabian F. Moebius, Moyra Smith, Ann B. Moser, Paul Lin
Publikováno v:
Nature Genetics. 22:291-294
X-linked dominant Conradi-Hünermann syndrome (CDPX2; MIM 302960) is one of a group of disorders with aberrant punctate calcification in cartilage, or chondrodysplasia punctata (CDP). This is most prominent around the vertebral column, pelvis and lon
Publikováno v:
Journal of Biological Chemistry. 274:6754-6762
Δ1-Pyrroline-5-carboxylate synthase (P5CS; EC not assigned), a mitochondrial inner membrane, ATP- and NADPH-dependent, bifunctional enzyme, catalyzes the reduction of glutamate to Δ1-pyrroline-5-carboxylate, a critical step in the de novo biosynthe
Autor:
David Valle, Bernadette E. Reuber, Trina A. Schroer, James C. Morrell, Michael Schrader, Cassandra Obie, Tina A. Stroh, Gerardo Jimenez-Sanchez, Stephen Jay Gould
Publikováno v:
Journal of Biological Chemistry. 273:29607-29614
Mammalian cells typically contain hundreds of peroxisomes but can increase peroxisome abundance further in response to extracellular stimuli. We report here the identification and characterization of two novel human peroxisomal membrane proteins, PEX
Autor:
Cassandra Obie, D. Vaughn, Chien-An Andy Hu, A. J. Nicholson, Gerardo Jimenez-Sanchez, M. P. Flynn, David Valle, Wei Wen Lin, Michael T. Geraghty
Publikováno v:
Human Molecular Genetics. 7:1411-1415
We surveyed Delta1-pyrroline 5-carboxylate dehydrogenase genes from four patients with hyperprolinemia type II using RT-PCR amplification, genomic PCR amplification and direct sequencing. We found four mutant alleles, two with frameshift mutations [A
Autor:
Gary Steel, Muriel I. Kaiser-Kupfer, I Sipila, J Michaud, G Fontaine, Cassandra Obie, M.F. Robert, G A Mitchell, L.C. Brody, David Valle
Publikováno v:
Journal of Biological Chemistry. 267:3302-3307
Ornithine delta-aminotransferase is a nuclear-encoded mitochondrial matrix enzyme which catalyzes the reversible interconversion of ornithine and alpha-ketoglutarate to glutamate semialdehyde and glutamate. Inherited deficiency of ornithine delta-ami