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Items: 1 to 20 of 37

1.
Variant analysis and PGT-M of OTC gene in a Chinese family with ornithine carbamoyltransferase deficiency
Yao Zhou, Xinxing Jiang, Yongfang Zhang, Yu Zhang, Fei Sun, Yanlin Ma
BMC Pregnancy Childbirth. 2024; 24: 491. Published online 2024 Jul 22. doi: 10.1186/s12884-024-06696-5
PMCID:
PMC11265161
AbstractArticlePDF–1.8M
2.
Revisiting the Roles of Catalytic Residues in Human Ornithine Transcarbamylase
Samantha S. Watson, Emily Micheloni, Lisa Ngu, Kelly K. Barnsley, Lee Makowski, Penny J. Beuning, Mary Jo Ondrechen
Biochemistry. 2024 Jul 16; 63(14): 1858–1875. Published online 2024 Jun 28. doi: 10.1021/acs.biochem.4c00206
PMCID:
PMC11256359
AbstractArticlePDF–3.8M
3.
A promoter variant in the OTC gene associated with late and variable age of onset hyperammonemia
Sangwoo T Han, Katherine J Anderson, Hans T Bjornsson, Nicola Longo, David Valle
J Inherit Metab Dis. Author manuscript; available in PMC 2023 Jul 6.
Published in final edited form as: J Inherit Metab Dis. 2022 Jul; 45(4): 710–718. Published online 2022 Jun 28. doi: 10.1002/jimd.12524
PMCID:
PMC10323875
AbstractArticlePDF–1004K
4.
The functional impact of 1,570 individual amino acid substitutions in human OTC
Russell S. Lo, Gareth A. Cromie, Michelle Tang, Kevin Teng, Katherine Owens, Amy Sirr, J. Nathan Kutz, Hiroki Morizono, Ljubica Caldovic, Nicholas Ah Mew, Andrea Gropman, Aimée M. Dudley
Am J Hum Genet. 2023 May 4; 110(5): 863–879. Published online 2023 May 4. doi: 10.1016/j.ajhg.2023.03.019
PMCID:
PMC10183466
AbstractArticlePDF–4.6M
5.
CFTR interactome mapping using the mammalian membrane two‐hybrid high‐throughput screening system
Sang Hyun Lim, Jamie Snider, Liron Birimberg‐Schwartz, Wan Ip, Joana C Serralha, Hugo M Botelho, Miquéias Lopes‐Pacheco, Madalena C Pinto, Mohamed Taha Moutaoufik, Mara Zilocchi, Onofrio Laselva, Mohsen Esmaeili, Max Kotlyar, Anna Lyakisheva, Priscilla Tang, Lucía López Vázquez, Indira Akula, Farzaneh Aboualizadeh, Victoria Wong, Ingrid Grozavu, Teuta Opacak‐Bernardi, Zhong Yao, Meg Mendoza, Mohan Babu, Igor Jurisica, Tanja Gonska, Christine E Bear, Margarida D Amaral, Igor Stagljar
Mol Syst Biol. 2022 Feb; 18(2): e10629. Published online 2022 Feb 14. doi: 10.15252/msb.202110629
PMCID:
PMC8842165
AbstractArticlePDF–3.0M
6.
OTC intron 4 variations mediate pathogenic splicing patterns caused by the c.386G>A mutation in humans and spfash mice, and govern susceptibility to RNA-based therapies
Claudia Sacchetto, Laura Peretto, Francisco Baralle, Iva Maestri, Francesca Tassi, Francesco Bernardi, Stan F. J. van de Graaf, Franco Pagani, Mirko Pinotti, Dario Balestra
Mol Med. 2021; 27: 157. Published online 2021 Dec 14. doi: 10.1186/s10020-021-00418-9
PMCID:
PMC8670272
AbstractArticlePDF–2.7M
7.
Quantitative high-confidence human mitochondrial proteome and its dynamics in cellular context
Marcel Morgenstern, Christian D. Peikert, Philipp Lübbert, Ida Suppanz, Cinzia Klemm, Oliver Alka, Conny Steiert, Nataliia Naumenko, Alexander Schendzielorz, Laura Melchionda, Wignand W.D. Mühlhäuser, Bettina Knapp, Jakob D. Busch, Sebastian B. Stiller, Stefan Dannenmaier, Caroline Lindau, Mariya Licheva, Christopher Eickhorst, Riccardo Galbusera, Ralf M. Zerbes, Michael T. Ryan, Claudine Kraft, Vera Kozjak-Pavlovic, Friedel Drepper, Sven Dennerlein, Silke Oeljeklaus, Nikolaus Pfanner, Nils Wiedemann, Bettina Warscheid
Cell Metab. 2021 Dec 7; 33(12): 2464–2483.e18. doi: 10.1016/j.cmet.2021.11.001
PMCID:
PMC8664129
AbstractArticle
8.
Common polymorphic OTC variants can act as genetic modifiers of enzymatic activity
Mónica Lopes‐Marques, Ana Rita Pacheco, Maria João Peixoto, Ana Rita Cardoso, Catarina Serrano, António Amorim, Maria João Prata, David N. Cooper, Luísa Azevedo
Hum Mutat. 2021 Aug; 42(8): 978–989. Published online 2021 Jun 3. doi: 10.1002/humu.24221
PMCID:
PMC8362079
AbstractArticlePDF–2.3M
9.
Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome
Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi
Cell. Author manuscript; available in PMC 2022 May 27.
Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011
PMCID:
PMC8165030
AbstractArticlePDF–2.2M
10.
Identification of rare variants causing urea cycle disorders: A clinical, genetic, and biophysical study
Fang Liu, Li‐sha Bao, Ru‐jia Liang, Xiao‐ying Zhao, Zhi Li, Zhi‐fang Du, Shao‐guang Lv
J Cell Mol Med. 2021 Apr; 25(8): 4099–4109. Published online 2021 Feb 21. doi: 10.1111/jcmm.16379
PMCID:
PMC8051738
AbstractArticlePDF–1.5M
11.
The Application of Next-Generation Sequencing (NGS) in Neonatal-Onset Urea Cycle Disorders (UCDs): Clinical Course, Metabolomic Profiling, and Genetic Findings in Nine Chinese Hyperammonemia Patients
Qingnv Zhou, Huafei Huang, Li Ma, Tianwen Zhu
Biomed Res Int. 2020; 2020: 5690915. Published online 2020 Aug 31. doi: 10.1155/2020/5690915
PMCID:
PMC7479453
AbstractArticlePDF–763K
12.
Disease-causing Mutations in the Promoter and Enhancer of the Ornithine Transcarbamylase Gene
Yoon J. Jang, Abigail L. LaBella, Timothy P. Feeney, Nancy Braverman, Mendel Tuchman, Hiroki Morizono, Nicholas Ah Mew, Ljubica Caldovic
Hum Mutat. Author manuscript; available in PMC 2020 Jul 29.
Published in final edited form as: Hum Mutat. 2018 Apr; 39(4): 527–536. Published online 2018 Jan 16. doi: 10.1002/humu.23394
PMCID:
PMC7388160
AbstractArticlePDF–1.5M
13.
Clinical and genetic analysis of five Chinese patients with urea cycle disorders
Zhenzhu Zheng, Yiming Lin, Weihua Lin, Lin Zhu, Mengyi Jiang, Wenjun Wang, Qingliu Fu
Mol Genet Genomic Med. 2020 Jul; 8(7): e1301. Published online 2020 May 15. doi: 10.1002/mgg3.1301
PMCID:
PMC7336749
AbstractArticlePDF–1.1M
14.
Involvement of Ornithine Carbamoyltransferase in the Progression of Chronic Hepatitis C and Liver Cirrhosis
Masahiko Ohnishi, Akihisa Higuchi, Hiroshi Matsumura, Yasuo Arakawa, Hitomi Nakamura, Kazushige Nirei, Toshiki Yamamoto, Hiroaki Yamagami, Masahiro Ogawa, Takuji Gotoda, Shunichi Matsuoka, Noriko Nakajima, Masahiko Sugitani, Mitsuhiko Moriyama, Hiroshi Murayama
Int J Med Sci. 2017; 14(7): 629–638. Published online 2017 Jun 14. doi: 10.7150/ijms.17641
PMCID:
PMC5562113
AbstractArticlePDF–866K
15.
Architecture of the human interactome defines protein communities and disease networks
Edward L. Huttlin, Raphael J. Bruckner, Joao A. Paulo, Joe R. Cannon, Lily Ting, Kurt Baltier, Greg Colby, Fana Gebreab, Melanie P. Gygi, Hannah Parzen, John Szpyt, Stanley Tam, Gabriela Zarraga, Laura Pontano-Vaites, Sharan Swarup, Anne E. White, Devin K. Schweppe, Ramin Rad, Brian K. Erickson, Robert A. Obar, K.G. Guruharsha, Kejie Li, Spyros Artavanis-Tsakonas, Steven P. Gygi, J. Wade Harper
Nature. Author manuscript; available in PMC 2017 Nov 17.
Published in final edited form as: Nature. 2017 May 25; 545(7655): 505–509. Published online 2017 May 17. doi: 10.1038/nature22366
PMCID:
PMC5531611
AbstractArticlePDF–2.7M
16.
A novel mutation in ornithine transcarbamylase gene causing mild intermittent hyperammonemia
Sarar Mohamed, Muddathir H. Hamad, Altaf A. Kondkar, Khaled K. Abu-Amero
Saudi Med J. 2015 Oct; 36(10): 1229–1232. doi: 10.15537/smj.2015.10.12127
PMCID:
PMC4621731
AbstractArticlePDF–258K
17.
Genotype–Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation Update
Ljubica Caldovic, Iman Abdikarim, Sahas Narain, Mendel Tuchman, Hiroki Morizono
J Genet Genomics. Author manuscript; available in PMC 2016 May 20.
Published in final edited form as: J Genet Genomics. 2015 May 20; 42(5): 181–194. Published online 2015 May 19. doi: 10.1016/j.jgg.2015.04.003
PMCID:
PMC4565140
AbstractArticlePDF–2.0M
18.
Functional Characterization of the spf/ash Splicing Variation in OTC Deficiency of Mice and Man
Ana Rivera-Barahona, Rocío Sánchez-Alcudia, Hiu Man Viecelli, Veronique Rüfenacht, Belén Pérez, Magdalena Ugarte, Johannes Häberle, Beat Thöny, Lourdes Ruiz Desviat
PLoS One. 2015; 10(4): e0122966. Published online 2015 Apr 8. doi: 10.1371/journal.pone.0122966
Correction in:
PLoS One. 2015; 10(5): e0128506.
PMCID:
PMC4390381
AbstractArticlePDF–914K
19.
Sudden unexpected fatal encephalopathy in adults with OTC gene mutations-Clues for early diagnosis and timely treatment
Catia Cavicchi, Maria Alice Donati, Rossella Parini, Miriam Rigoldi, Mauro Bernardi, Francesca Orfei, Nicolò Gentiloni Silveri, Aniello Colasante, Silvia Funghini, Serena Catarzi, Elisabetta Pasquini, Giancarlo la Marca, Sean David Mooney, Renzo Guerrini, Amelia Morrone
Orphanet J Rare Dis. 2014; 9: 105. Published online 2014 Jul 16. doi: 10.1186/s13023-014-0105-9
PMCID:
PMC4304088
AbstractArticlePDF–1.1M
20.
Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium
Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas
Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042
PMCID:
PMC3178059
AbstractArticlePDF–1.0M

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