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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
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Published in Current molecular medicine (01.01.2015)
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The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency
Baumgartner, M R, Almashanu, S, Suormala, T, Obie, C, Cole, R N, Packman, S, Baumgartner, E R, Valle, D
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Published in The Journal of clinical investigation (15.02.2001)
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Splice-Mediated Insertion of an Alu Sequence Inactivates Ornithine δ-Aminotransferase: A Role for Alu Elements in Human Mutation
Mitchell, Grant A., Labuda, Damian, Fontaine, Gisele, Saudubray, Jean Marie, Bonnefont, Jean Paul, Lyonnet, Stanislas, Brody, Lawrence C., Steel, Gary, Obie, Cassandra, Valle, David
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Published in Proceedings of the National Academy of Sciences - PNAS (01.02.1991)
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Ornithine delta-aminotransferase mutations in gyrate atrophy. Allelic heterogeneity and functional consequences
BRODY, L. C, MITCHELL, G. A, OBIE, C, MICHAUD, J, STEEL, G, FONTAINE, G, ROBERT, M.-R, SIPILA, I, KAISER-KUPFER, M, VALLE, D
Published in The Journal of biological chemistry (15.02.1992)
Published in The Journal of biological chemistry (15.02.1992)
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At Least Two Mutant Alleles of Ornithine δ -aminotransferase Cause Gyrate Atrophy of the Choroid and Retina in Finns
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
Published in Proceedings of the National Academy of Sciences - PNAS (01.01.1989)
Published in Proceedings of the National Academy of Sciences - PNAS (01.01.1989)
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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
Gärtner, J, Obie, C, Watkins, P, Valle, D
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Published in Journal of inherited metabolic disease (01.05.1994)
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Reverse Dutch Disease with Trade Costs: Prospects for Agriculture in Africa's Oil-Rich Economies
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Expression of PEX11β Mediates Peroxisome Proliferation in the Absence of Extracellular Stimuli
Schrader, Michael, Reuber, Bernadette E., Morrell, James C., Jimenez-Sanchez, Gerardo, Obie, Cassandra, Stroh, Tina A., Valle, David, Schroer, Trina A., Gould, Stephen J.
Published in The Journal of biological chemistry (06.11.1998)
Published in The Journal of biological chemistry (06.11.1998)
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Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype
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
Published in Human mutation (01.10.2002)
Published in Human mutation (01.10.2002)
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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
Baumgartner, M R, Hu, C A, Almashanu, S, Steel, G, Obie, C, Aral, B, Rabier, D, Kamoun, P, Saudubray, J M, Valle, D
Published in Human molecular genetics (22.11.2000)
Published in Human molecular genetics (22.11.2000)
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Hyperornithinaemia- hyperammonaemia- homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter
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
Published in Nature genetics (01.06.1999)
Published in Nature genetics (01.06.1999)
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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
Baumgartner, M R, Hu, Chien-an A, Almashanu, S, Steel, G, Obie, C, Aral, B, Rabier, D, Kamoun, P, Saudubray, J-M, Valle, D
Published in Human molecular genetics (22.11.2000)
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Published in Human molecular genetics (22.11.2000)
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NVL: A New Member of the AAA Family of ATPases Localized to the Nucleus
Germain-Lee, Emily L., Obie, Cassandra, Valle, David
Published in Genomics (San Diego, Calif.) (15.08.1997)
Published in Genomics (San Diego, Calif.) (15.08.1997)
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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
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
Published in Nature genetics (01.07.1999)
Published in Nature genetics (01.07.1999)
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