Substrate-Induced Conformational Change in a Trimeric Ornithine Transcarbamoylase

Autor: Ha, Ya, McCann, Mark T., Tuchman, Mendel, Allewell, Norma M.

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America, 1997 Sep 01. 94(18), 9550-9555.

Externí odkaz: https://www.jstor.org/stable/43061

Structure of a novel N-acetyl- l-citrulline deacetylase from Xanthomonas campestris

Autor: Shi, Dashuang, Yu, Xiaolin, Roth, Lauren, Tuchman, Mendel, Allewell, Norma M.

Publikováno v: In Biophysical Chemistry 2007 126(1):86-93

Noncoding sequence variants define a novel regulatory element in the first intron of the N‐acetylglutamate synthase gene.

Autor: Häberle, Johannes, Moore, Marvin B., Haskins, Nantaporn, Rüfenacht, Véronique, Rokicki, Dariusz, Rubio‐Gozalbo, Estela, Tuchman, Mendel, Longo, Nicola, Yandell, Mark, Andrews, Ashley, AhMew, Nicholas, Caldovic, Ljubica

Publikováno v: Human Mutation; Dec2021, Vol. 42 Issue 12, p1624-1636, 13p

Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders-A successful strategy for clinical research of rare diseases

Autor: Posset, Roland, Garbade, Sven F., Boy, Nikolas, Burlina, Alberto B., Dionisi-Vici, Carlo, Dobbelaere, Dries, Garcia-Cazorla, Angeles, de Lonlay, Pascale, Teles, Elisa Leao, Vara, Roshni, Mew, Nicholas Ah., Batshaw, Mark L., Baumgartner, Matthias R., McCandless, Shawn, Seminara, Jennifer, Summar, Marshall, Hoffmann, Georg F., Koelker, Stefan, Burgard, Peter, Bloxam, Sondra, Brody, Linnea, Caspi, Liora, Elsbecker, Sara, Fierro, Luca, Lynn, Audrey, Mullins, Mary, Mutze, Ulrike, Papaleo, Cassandra, Payan, Irma, Simpson, Kara, Singer, Rebecca, Wallis, Kimberly, Alber, Fabienne Dietrich, Babikian, Talin, Bender, Heidi, Boys, Christopher, Breiger, David, Buerger, Corinna, Caudle, Susan E., Nguyen-Driver, Mina, Kerr, Elizabeth, Mamak, Eva, Sanz, Jacqueline H., Tangen, Rachel, Wilkening, Greta, Cederbaum, Stephen, Feigenbaum, Annette, Kerr, Douglas S., Lichter-Konecki, Uta, Seashore, Margretta R., Berry, Susan A., Burrage, Lindsay, Coughlin, Curtis, Diaz, George A., Gallagher, Renata C., Gropman, Andrea, Harding, Cary O., Lee, Brendan, Le Mons, Cynthia, Merritt, J. Lawrence, II, Nagamani, Sandesh C. S., Schulze, Andreas, Stricker, Tamar, Tuchman, Mendel, Waisbren, Susan, Weisfeld-Adams, James, Wong, Derek, Yudkoff, Marc, Arnoux, Jean-Baptiste, Baric, Ivo, Bosch, Annet M., Chabrol, Brigitte, Chakrapani, Anupam, Cortes-Saladefont, Elisenda, Couce, Maria L., Eyskens, François, de Laet, Corine, de Meirleir, Linda, Freisinger, Peter, Gleich, Florian, Grunewald, Stephanie, Haberle, Johannes, Hwu, Wuh-Liang, Jalan, Anil, Karall, Daniela, Lindner, Martin, Lund, Allan M., Martinelli, Diego, Murphy, Elaine, Muehlhausen, Chris, Olivieri, Giorgia, Ottolenghi, Chris, Rodrigues, Esmeralda, Rubert, Laura, Sarajlija, Adrijan, Schiff, Manuel, Sokal, Etienne, Sykut-Cegielska, Jolanta, Walter, John H., Williams, Monique, Zeman, Jiri

Publikováno v: Journal of inherited metabolic disease, vol 42, iss 1
Journal of Inherited Metabolic Disease, 42(1), 93-106. Springer Netherlands
Posset, R, Garbade, S F, Boy, N, Burlina, A B, Dionisi-Vici, C, Dobbelaere, D, Garcia-Cazorla, A, de Lonlay, P, Teles, E L, Vara, R, Mew, N A, Batshaw, M L, Baumgartner, M R, McCandless, S E, Seminara, J, Summar, M, Hoffmann, G F, Kölker, S, Burgard, P, Additional individual contributors of the UCDC and the E-IMD consortium & Zeman, J 2019, ' Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—A successful strategy for clinical research of rare diseases ', Journal of Inherited Metabolic Disease, vol. 42, no. 1, pp. 93-106 . https://doi.org/10.1002/jimd.12031
Journal of inherited metabolic disease, 42(1), 93-106. Springer Netherlands
J Inherit Metab Dis
Journal of Inherited Metabolic Disease, Vol. 42, no. 1, p. 93-106 (2019)
Journal of inherited metabolic disease

ollaborators: Bloxam S, Brody L, Caspi L, Elsbecker S, Fierro L, Lynn A, Mullins M, Mütze U, Papaleo C, Payan I, Seminara J, Simpson K, Singer R, Wallis K, Alber FD, Babikian T, Bender H, Boys C, Breiger D, Buerger C, Caudle SE, NguyenDriver M, Kerr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d93d4609396aef463719272a84cbaf6b
https://escholarship.org/uc/item/5h73x4jb

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