Results 21 to 30 of about 116,128,249 (216)

Acute liver failure-induced arginine deficiency impairs blood-brain barrier via inhibiting mTORC1-S6K1/4EBP1 pathway and inducing autophagy [PDF]

Cell Death and Disease
Blood-brain barrier (BBB) impairment plays a crucial role in the development of hepatic encephalopathy. Our previous work demonstrated that hepatic ischemia-reperfusion-induced acute liver failure (ALF) impairs the BBB by releasing arginase, but the ...
Hanyu Yang, Weimin Kong, Ling Jiang, Liang Zhu, Xun Wang, Lu Yang, Liqiang Qian, Zijun Xu, Chenyang Zhang, Xiaodong Liu, Li Liu   +10 more
doaj   +2 more sources

Retrospective analysis of arginase 1 deficiency progression in adults over 5 years at a single metabolic centre [PDF]

JIMD Reports
Background The clinical presentation of ARG1‐D is characterised by elevated arginine levels leading to neurological and mobility impairments. Information about long‐term outcomes in adults is lacking, which prompted us to undertake a retrospective ...
Reena Sharma, John Bassett, Karolina M. Stepien, Andrew Oldham, Ana Jovanovic, Alison Woodall, Diane Green   +6 more
doaj   +2 more sources

Efficacy and safety of pegzilarginase in arginase 1 deficiency (PEACE): a phase 3, randomized, double-blind, placebo-controlled, multi-centre trialResearch in context [PDF]

EClinicalMedicine
Summary: Background: Arginase 1 Deficiency (ARG1-D) is a rare debilitating, progressive, inherited, metabolic disease characterized by marked increases in plasma arginine (pArg) and its metabolites, with increased morbidity, substantial reductions in ...
Rossana Sanchez Russo, Serena Gasperini, Gillian Bubb, Linda Neuman, Leslie S. Sloan, George A. Diaz, Gregory M. Enns   +6 more
doaj   +2 more sources

Transplantation of Gene-Edited Hepatocyte-like Cells Modestly Improves Survival of Arginase-1-Deficient Mice [PDF]

Molecular Therapy: Nucleic Acids, 2018
Progress in gene editing research has been accelerated by utilizing engineered nucleases in combination with induced pluripotent stem cell (iPSC) technology.
Yuan Yan Sin, Laurel L. Ballantyne, Christopher R. Richmond, Colin D. Funk   +3 more
doaj   +4 more sources

Real‐World Effectiveness and Safety of Pegzilarginase Treatment in Arginase 1 Deficiency

JIMD Reports
Pegzilarginase is the first disease‐modifying drug for arginase 1 deficiency. In clinical trials, pegzilarginase effectively normalised plasma arginine (pArg), which was associated with clinically relevant improvements in neuromotor outcomes.
Anaïs Brassier, Alina Arion, Jean‐Baptiste Arnoux, Magalie Barth, Dries Dobbelaere, Magali Gorce, Michael Grövdal, Cécile Laroche, Olivia Rime, Manuel Schiff, Mattias Rudebeck   +10 more
doaj   +2 more sources

Arginase 1 Deficiency in Patients Initially Diagnosed with Hereditary Spastic Paraplegia. [PDF]

Mov Disord Clin Pract, 2023
AbstractBackgroundArginase 1 Deficiency (ARG1‐D) is a rare autosomal recessive urea cycle disorder (UCD) characterized by pathologic elevation of plasma arginine and debilitating manifestations. Based on clinical commonalities and low disease awareness, ARG1‐D can be diagnosed as hereditary spastic paraplegia (HSP), leading to treatment delays.CasesA ...
McNutt MC, Foreman N, Gotway G.
europepmc   +3 more sources

Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency

Journal of Inherited Metabolic Disease, 2016
BACKGROUND: Arginase 1 (ARG1) deficiency is a rare urea cycle disorder (UCD). This hypothesis-generating study explored clinical phenotypes, metabolic profiles, molecular genetics, and treatment approaches in a cohort of children and adults with ARG1 ...
Brum, Jaime M., Weisfeld-Adams, James D, Häberle, Johannes, Riesner, Brunhilde, Weisfeld-Adams, James D., Ünal, Özlem, Ulmer, Hanno, Haeberle, Johannes, Donner, Markus G, Karall, Daniela, Coskun, Turgay, Schlune, Andrea, Gemperle, Claudio, Scholl-Buergi, Sabine, Huemer, Martina, Carvalho, Daniel R, Schrager, Nina L, Schrager, Nina L., Donner, Markus G., Scholl-Bürgi, Sabine, Carvalho, Daniel R., Hersberger, Martin, Brum, Jaime M, Hersberger, Martin; https://orcid.org/, Ulmer H, Weisfeld-Adams JD, Riesner B, Karall D, Schrager NL, Donner MG, Ünal Ö, Häberle J, Scholl-Bürgi S, Carvalho DR, Brum JM, Gemperle C, Schlune A, Coskun T, Huemer M, Hersberger M   +39 more
core   +7 more sources

Arginase 1 deficiency: a treatable form of spastic paraplegia. [PDF]

Neurol Sci
Abstract Background Arginase 1 deficiency (ARG1-D) is a rare hereditary urea cycle disorder characterized by elevated arginine levels, resulting in progressive neurological impairment and severe physical and cognitive disability.
Burlina A, Ardissone A, Battini R, Burlina A, Gasperini S, Pession A, Porta F, Vici CD.   +7 more
europepmc   +3 more sources

Adult-onset arginase-1 deficiency mimicking hereditary spastic paraplegia

Neurología (English Edition)
F. Castellanos-Pinedo, J.M. Morán-López, S. Moreno-Pulido, B. Rodríguez-Fúnez, I. Royo Boronat   +4 more
doaj   +3 more sources

Creatine metabolism in patients with urea cycle disorders

Molecular Genetics and Metabolism Reports, 2021
The urea cycle generates arginine that is one of the major precursors for creatine biosynthesis. Here we evaluate levels of creatine and guanidinoacetate (the precursor in the synthesis of creatine) in plasma samples (ns = 207) of patients (np = 73) with
Filippo Ingoglia, Jean-Leon Chong, Marzia Pasquali, Nicola Longo   +3 more
doaj   +1 more source