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Select item 115866061.

The incidence of movement disorder increases with age and contrasts with subtle and limited neuroimaging abnormalities in argininosuccinic aciduria

Sonam Gurung, Saketh Karamched, Dany Perocheau, Kiran K. Seunarine, Tom Baldwin, Haya Alrashidi, Loukia Touramanidou, Claire Duff, Nour Elkhateeb, Karolina M. Stepien, Reena Sharma, Andrew Morris, Thomas Hartley, Laura Crowther, Stephanie Grunewald, Maureen Cleary, Helen Mundy, Anupam Chakrapani, Spyros Batzios, James Davison, Emma Footitt, Karin Tuschl, Robin Lachmann, Elaine Murphy, Saikat Santra, Mari‐Liis Uudelepp, Mildrid Yeo, Patrick F. Finn, Alex Cavedon, Summar Siddiqui, Lisa Rice, Paolo G. V. Martini, Andrea Frassetto, Simon Heales, Philippa B. Mills, Paul Gissen, Jonathan D. Clayden, Christopher A. Clark, Simon Eaton, Tammy L. Kalber, Julien Baruteau

J Inherit Metab Dis. 2024 Nov; 47(6): 1213–1227. Published online 2023 Dec 4. doi: 10.1002/jimd.12691

PMCID:: PMC11586606

Abstract Article PDF–2.8M

Select item 115866032.

Exploring RNA therapeutics for urea cycle disorders

Eva Richard, Ainhoa Martínez‐Pizarro, Lourdes R. Desviat

J Inherit Metab Dis. 2024 Nov; 47(6): 1269–1277. Published online 2024 Oct 24. doi: 10.1002/jimd.12807

PMCID:: PMC11586603

Abstract Article PDF–1.4M

Select item 114129193.

Fatal consequences of limited health literacy in a patient with a rare metabolic disease

Markey C. McNutt

Mol Genet Metab Rep. 2024 Aug; 39(Suppl 1): 101121. Published online 2024 Jul 14. doi: 10.1016/j.ymgmr.2024.101121

PMCID:: PMC11412919

Abstract Article PDF–1.1M

Select item 114129184.

Management of a urea cycle disorder in the setting of socioeconomic and language barriers

Erika Vucko, Joshua Baker, Karen Becker, Kirsten Havens, Katherine Arduini, Soo Shim

Mol Genet Metab Rep. 2024 Aug; 39(Suppl 1): 101108. Published online 2024 Jun 25. doi: 10.1016/j.ymgmr.2024.101108

PMCID:: PMC11412918

Abstract Article PDF–392K

Select item 111470865.

Intragenic complementation and the structure and function of argininosuccinate lyase

B. Yu, P. L. Howell

Cell Mol Life Sci. 2000 Oct; 57(11): 1637–1651. doi: 10.1007/PL00000646

PMCID:: PMC11147086

Abstract Article PDF–1.1M

Select item 110239196.

Genetic and functional correction of argininosuccinate lyase deficiency using CRISPR adenine base editors

Sami Jalil, Timo Keskinen, Juhana Juutila, Rocio Sartori Maldonado, Liliya Euro, Anu Suomalainen, Risto Lapatto, Emilia Kuuluvainen, Ville Hietakangas, Timo Otonkoski, Mervi E. Hyvönen, Kirmo Wartiovaara

Am J Hum Genet. 2024 Apr 4; 111(4): 714–728. Published online 2024 Apr 4. doi: 10.1016/j.ajhg.2024.03.004

PMCID:: PMC11023919

Abstract Article PDF–2.7M

Select item 110161667.

Ex vivo precision-cut liver slices model disease phenotype and monitor therapeutic response for liver monogenic diseases

Dany Perocheau, Sonam Gurung, Loukia Touramanidou, Claire Duff, Garima Sharma, Neil Sebire, Patrick F Finn, Alex Cavedon, Summar Siddiqui, Lisa Rice, Paolo G.V. Martini, Andrea Frassetto, Julien Baruteau

Version 2. F1000Res. 2023; 12: 1580. Published online 2024 Apr 8. doi: 10.12688/f1000research.142014.2

PMCID:: PMC11016166

Abstract Article PDF–3.5M

Select item 109534168.

Gene therapy for urea cycle defects: An update from historical perspectives to future prospects

Claire Duff, Ian E. Alexander, Julien Baruteau

J Inherit Metab Dis. 2024 Jan; 47(1): 50–62. Published online 2023 Apr 18. doi: 10.1002/jimd.12609

PMCID:: PMC10953416

Abstract Article PDF–1.9M

Select item 105441979.

Argininosuccinate lyase deficiency causes blood-brain barrier disruption via nitric oxide–mediated dysregulation of claudin expression

Jordan Kho, Urszula Polak, Ming-Ming Jiang, John D. Odom, Jill V. Hunter, Saima M. Ali, Lindsay C. Burrage, Sandesh C.S. Nagamani, Robia G. Pautler, Hannah P. Thompson, Akihiko Urayama, Zixue Jin, Brendan Lee

JCI Insight. 2023 Sep 8; 8(17): e168475. Published online 2023 Sep 8. doi: 10.1172/jci.insight.168475

PMCID:: PMC10544197

Abstract Article PDF–1.8M

Select item 1029660910.

ASL mRNA-LNP Therapeutic for the Treatment of Argininosuccinic Aciduria Enables Survival Benefit in a Mouse Model

Owen Daly, Azita Josefine Mahiny, Sara Majeski, Kevin McClintock, Julia Reichert, Gábor Boros, Gábor Tamás Szabó, Jonas Reinholz, Petra Schreiner, Steve Reid, Kieu Lam, Marlen Lepper, Melanie Adler, Tracy Meffen, James Heyes, Katalin Karikó, Pete Lutwyche, Irena Vlatkovic

Biomedicines. 2023 Jun; 11(6): 1735. Published online 2023 Jun 16. doi: 10.3390/biomedicines11061735

PMCID:: PMC10296609

Abstract Article PDF–2.7M

Select item 946817711.

Maternal uniparental disomy of chromosome 7 underlying argininosuccinic aciduria and Silver-Russell syndrome

Atsushi Hattori, Torayuki Okuyama, Tetsumin So, Motomichi Kosuga, Keiko Ichimoto, Kei Murayama, Masayo Kagami, Maki Fukami, Yasuyuki Fukuhara

Hum Genome Var. 2022; 9: 32. Published online 2022 Sep 12. doi: 10.1038/s41439-022-00211-y

PMCID:: PMC9468177

Abstract Article PDF–1.1M

Select item 929186712.

Liver Transplantation in Children with Urea Cycle Disorders: The Importance of Minimizing Waiting Time

Ioannis A. Ziogas, W. Kelly Wu, Lea K. Matsuoka, Anita K. Pai, Einar T. Hafberg, Lynette A. Gillis, Thomas M. Morgan, Sophoclis P. Alexopoulos

Liver Transpl. 2021 Dec; 27(12): 1799–1810. Published online 2021 Aug 1. doi: 10.1002/lt.26186

PMCID:: PMC9291867

Abstract Article PDF–550K

Select item 914012813.

Unmet Needs of Parents of Children with Urea Cycle Disorders

Mara Scharping, Heiko Brennenstuhl, Sven F. Garbade, Beate Wild, Roland Posset, Matthias Zielonka, Stefan Kölker, Markus W. Haun, Thomas Opladen

Children (Basel) 2022 May; 9(5): 712. Published online 2022 May 12. doi: 10.3390/children9050712

PMCID:: PMC9140128

Abstract Article PDF–968K

Select item 902351314.

Clinical diagnosis of metabolic disorders using untargeted metabolomic profiling and disease-specific networks learned from profiling data

Lillian R. Thistlethwaite, Xiqi Li, Lindsay C. Burrage, Kevin Riehle, Joseph G. Hacia, Nancy Braverman, Michael F. Wangler, Marcus J. Miller, Sarah H. Elsea, Aleksandar Milosavljevic

Sci Rep. 2022; 12: 6556. Published online 2022 Apr 21. doi: 10.1038/s41598-022-10415-5

PMCID:: PMC9023513

Abstract Article PDF–4.4M

Select item 882059215.

L-arginine transfer from antigen presenting cells sustains CD4⁺ T cell viability and proliferation

Rebecca R. Crowther, Stephanie M. Schmidt, Shannon M. Lange, Melanie C. McKell, Michelle C. Robillard, Junfang Zhao, Wendy D. Haffey, Michael A. Wyder, Kenneth D. Greis, Kenneth D. R. Setchell, Joseph E. Qualls

J Immunol. Author manuscript; available in PMC 2023 Feb 15.

Published in final edited form as: J Immunol. 2022 Feb 15; 208(4): 793–798. Published online 2022 Jan 31. doi: 10.4049/jimmunol.2100652

PMCID:: PMC8820592

Abstract Article PDF–1.0M

Select item 857418316.

Late‐onset argininosuccinic aciduria in a 72‐year‐old man presenting with fatal hyperammonemia

Laurent Leuger, Xavier Dieu, Juan Manuel Chao de la Barca, Mikael Moriconi, Guillaume Halley, Xavier Donin de Rosière, Pascal Reynier, Delphine Mirebeau‐Prunier, Chadi Homedan

JIMD Rep. 2021 Nov; 62(1): 44–48. Published online 2021 Sep 26. doi: 10.1002/jmd2.12251

PMCID:: PMC8574183

Abstract Article PDF–1.0M

Select item 843328417.

Differences in faecal microbiome composition between adult patients with UCD and PKU and healthy control subjects

C. Timmer, M. Davids, M. Nieuwdorp, J.H.M. Levels, J.G. Langendonk, M. Breederveld, N. Ahmadi Mozafari, M. Langeveld

Mol Genet Metab Rep. 2021 Dec; 29: 100794. Published online 2021 Sep 8. doi: 10.1016/j.ymgmr.2021.100794

PMCID:: PMC8433284

Abstract Article PDF–549K

Select item 838790218.

Creatine metabolism in patients with urea cycle disorders

Filippo Ingoglia, Jean-Leon Chong, Marzia Pasquali, Nicola Longo

Mol Genet Metab Rep. 2021 Dec; 29: 100791. Published online 2021 Aug 23. doi: 10.1016/j.ymgmr.2021.100791

PMCID:: PMC8387902

Abstract Article PDF–1.7M

Select item 831535819.

Severity-adjusted evaluation of newborn screening on the metabolic disease course in individuals with cytosolic urea cycle disorders

Roland Posset, Stefan Kölker, Florian Gleich, Jürgen G. Okun, Andrea L. Gropman, Sandesh C. S. Nagamani, Svenja Scharre, Joris Probst, Magdalena E. Walter, Georg F. Hoffmann, Sven F. Garbade, Matthias Zielonka

Mol Genet Metab. Author manuscript; available in PMC 2021 Jul 27.

Published in final edited form as: Mol Genet Metab. 2020 Dec; 131(4): 390–397. Published online 2020 Nov 7. doi: 10.1016/j.ymgme.2020.10.013

PMCID:: PMC8315358

Abstract Article PDF–429K

Select item 805173820.

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

Abstract Article PDF–1.5M

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