Search Results - "Obie, C"

Clinical utility of neuronal cells directly converted from fibroblasts of patients for neuropsychiatric disorders: studies of lysosomal storage diseases and channelopathy by Kano, S, Yuan, M, Cardarelli, R A, Maegawa, G, Higurashi, N, Gaval-Cruz, M, Wilson, A M, Tristan, C, Kondo, M A, Chen, Y, Koga, M, Obie, C, Ishizuka, K, Seshadri, S, Srivastava, R, Kato, T A, Horiuchi, Y, Sedlak, T W, Lee, Y, Rapoport, J L, Hirose, S, Okano, H, Valle, D, O'Donnell, P, Sawa, A, Kai, M

“…Methodologies for generating functional neuronal cells directly from human fibroblasts [induced neuronal (iN) cells] have been recently developed, but the…”
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The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency by Baumgartner, M R, Almashanu, S, Suormala, T, Obie, C, Cole, R N, Packman, S, Baumgartner, E R, Valle, D

“…Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase (MCC) deficiency is an autosomal recessive disorder of leucine catabolism that appears to be the…”
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Splice-Mediated Insertion of an Alu Sequence Inactivates Ornithine δ-Aminotransferase: A Role for Alu Elements in Human Mutation by Mitchell, Grant A., Labuda, Damian, Fontaine, Gisele, Saudubray, Jean Marie, Bonnefont, Jean Paul, Lyonnet, Stanislas, Brody, Lawrence C., Steel, Gary, Obie, Cassandra, Valle, David

“…In studies of mutations causing deficiency of ornithine δ-aminotransferase (EC 2.6.1.13), we found an allele whose mature mRNA has a 142-nucleotide insertion…”
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Ornithine delta-aminotransferase mutations in gyrate atrophy. Allelic heterogeneity and functional consequences by BRODY, L. C, MITCHELL, G. A, OBIE, C, MICHAUD, J, STEEL, G, FONTAINE, G, ROBERT, M.-R, SIPILA, I, KAISER-KUPFER, M, VALLE, D

“…Ornithine delta-aminotransferase is a nuclear-encoded mitochondrial matrix enzyme which catalyzes the reversible interconversion of ornithine and…”
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At Least Two Mutant Alleles of Ornithine δ -aminotransferase Cause Gyrate Atrophy of the Choroid and Retina in Finns by Mitchell, Grant A., Brody, Lawrence C., Sipila, Ilkka, Looney, James E., Wong, Corinne, Engelhardt, John F., Patel, Achyut S., Steel, Gary, Obie, Cassandra, Kaiser-Kupfer, Muriel, Valle, David

“…Gyrate atrophy of the choroid and retina (GA) is an inherited chorioretinal degeneration caused by deficiency of ornithine δ -aminotransferase (OAT;…”
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Restoration of peroxisome biogenesis in a peroxisome‐deficient mammalian cell line by expression of either the 35 kDa or the 70 kDa peroxisomal membrane proteins by Gärtner, J., Obie, C., Watkins, P., Valle, D.

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A polymorphic synonymous mutation (K54K) in the human 70 kD peroxisomal membrane protein gene (PMP1) by Gärtner, J, Obie, C, Moser, H, Valle, D

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Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata by Braverman, Nancy, Steel, Gary, Obie, Cassandra, Moser, Ann, Moser, Hugo, Gould, Stephen J, Valle, David

“…Rhizomelic chondrodysplasia punctata (RCDP) is a rare autosomal recessive phenotype that comprises complementation group 11 of the peroxisome biogenesis…”
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Expression of PEX11β Mediates Peroxisome Proliferation in the Absence of Extracellular Stimuli by Schrader, Michael, Reuber, Bernadette E., Morrell, James C., Jimenez-Sanchez, Gerardo, Obie, Cassandra, Stroh, Tina A., Valle, David, Schroer, Trina A., Gould, Stephen J.

“…Mammalian cells typically contain hundreds of peroxisomes but can increase peroxisome abundance further in response to extracellular stimuli. We report here…”
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Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype by Braverman, Nancy, Chen, Li, Lin, Paul, Obie, Cassandra, Steel, Gary, Douglas, Pamela, Chakraborty, Pranesh K., Clarke, Joe T.R., Boneh, Avihu, Moser, Ann, Moser, Hugo, Valle, David

“…PEX7 encodes the cytosolic receptor for the set of peroxisomal matrix enzymes targeted to the organelle by the peroxisome targeting signal 2 (PTS2). Mutations…”
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Alternative Splicing Suggests Extended Function of PEX26 in Peroxisome Biogenesis by Weller, Sabine, Cajigas, Ivelisse, Morrell, James, Obie, Cassandra, Steel, Gary, Gould, Stephen J., Valle, David

“…Matsumoto and colleagues recently identified PEX26 as the gene responsible for complementation group 8 of the peroxisome biogenesis disorders and showed that…”
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Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta(1)-pyrroline-5-carboxylate synthase by Baumgartner, M R, Hu, C A, Almashanu, S, Steel, G, Obie, C, Aral, B, Rabier, D, Kamoun, P, Saudubray, J M, Valle, D

“…delta(1)-pyrroline-5-carboxylate synthase (P5CS), a bifunctional ATP- and NADPH-dependent mitochondrial enzyme, catalyzes the reduction of glutamate to…”
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Hyperornithinaemia- hyperammonaemia- homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter by Camacho, Jose A, Casey, Robin, Biery, Barbara, Almashanu, Shlomo, Obie, Cassandra, Goodman, Barbara K, Valle, David, Mitchell, Grant A, Hu, Chien-An, Lambert, Marie, Steel, Gary

“…Neurospora crassa ARG13 and Saccharomyces cerevisiae ARG11 encode mitochondrial carrier family (MCF) proteins that transport ornithine across the mitochondrial…”
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Molecular Enzymology of Mammalian Delta super(1)-Pyrroline-5-carboxylate Synthase: Alternative Splice Donor Utilization Generates Isoforms with Different Sensitivity to Ornithine Inhibition by Hu, CA, Lin, W, Obie, C, Valle, D

“…Delta super(1)-Pyrroline-5-carboxylate synthase (P5CS; EC not assigned), a mitochondrial inner membrane, ATP- and NADPH-dependent, bifunctional enzyme,…”
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Molecular enzymology of mammalian Delta1-pyrroline-5-carboxylate synthase. Alternative splice donor utilization generates isoforms with different sensitivity to ornithine inhibition by Hu, C A, Lin, W W, Obie, C, Valle, D

“…Delta1-Pyrroline-5-carboxylate synthase (P5CS; EC not assigned), a mitochondrial inner membrane, ATP- and NADPH-dependent, bifunctional enzyme, catalyzes the…”
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Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding Delta super(1)-pyrroline-5-carboxylate synthase by Baumgartner, M R, Hu, Chien-an A, Almashanu, S, Steel, G, Obie, C, Aral, B, Rabier, D, Kamoun, P, Saudubray, J-M, Valle, D

“…Delta super(1)-pyrroline-5-carboxylate synthase (P5CS), a bifunctional ATP- and NADPH-dependent mitochondrial enzyme, catalyzes the reduction of glutamate to…”
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NVL: A New Member of the AAA Family of ATPases Localized to the Nucleus by Germain-Lee, Emily L., Obie, Cassandra, Valle, David

“…We report the cloning of NVL, a newly recognized human gene that encodes an approximately 110-kDa nuclear protein designated NVLp (nuclear VCP-like protein),…”
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Mutations in the gene encoding 3 beta -hydroxysteroid- Delta super(8), Delta super(7)-isomerase cause X-linked dominant Conradi-Huenermann syndrome by Braverman, N, Lin, P, Moebius, F F, Obie, C, Moser, A, Glossmann, H, Wilcox, W R, Rimoin, D L, Smith, M, Kratz, L, Kelley, R I, Valle, D

“…X-linked dominant Conradi-Huenermann syndrome (CDPX2; MIM 302960) is one of a group of disorders with aberrant punctate calcification in cartilage, or…”
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Hyperornithinaemia-hyperammonaelina-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter by CAMACHO, J. A, OBIE, C, VALLE, D, BIERY, B, GOODMAN, B. K, HU, C.-A, ALMASHANU, S, STEEL, G, CASEY, R, LAMBERT, M, MITCHELL, G. A

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Restoration of PEX2 peroxisome assembly defects by overexpression of PMP70 by Gärtner, Jutta, Brosius, Ute, Obie, Cassandra, Watkins, Paul A., Valle, David

“…The mutant Chinese hamster ovary (CHO) cell line Z78/C has defective peroxisome assembly due to a missense mutation in PEX2, the gene which encodes the 3S kDa…”
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