Results 41 to 50 of about 113,590,771 (217)

sj-pdf-1-pat-10.1177_2632010X221093274 – Supplemental material for Hyperargininemia Due to Arginase 1 Deficiency: Variability in Clinical and Biochemical Presentations in Malaysian children

, 2022
Supplemental material, sj-pdf-1-pat-10.1177_2632010X221093274 for Hyperargininemia Due to Arginase 1 Deficiency: Variability in Clinical and Biochemical Presentations in Malaysian children by Anasufiza Habib and Norashareena Mohamed Shakrin in Clinical ...
Anasufiza Habib (12427778), Norashareena Mohamed Shakrin (12427781)   +1 more
core   +1 more source

Age-related alteration of arginase activity impacts on severity of leishmaniasis. [PDF]

, 2008
BACKGROUND: The leishmaniases are a group of vector-borne parasitic diseases that represent a major international public health problem; they belong to the most neglected tropical diseases and have one of the highest rates of morbidity and mortality. The
Asrat Hailu, Choi, B., Abebe, T, Munder, Markus, Choi, B-S, Abebe Tamrat, Modolell, M, Choi Beak-San, Manuel Modolell, Hailu, A, Abebe, T., Fuentes, J., Modolell Manuel, Kropf Pascale, Abebe, Tamrat, Munder, M, Ingrid Müller, Kropf, P, Müller, Ingrid, Markus Munder, Modolell, M., Munder, M., Kropf, P., Kropf, Pascale, Beak-San Choi, Hailu, A., Fuentes, Jose M, Munder Markus, Fuentes Jose M., Pascale Kropf, Muller, I, Fuentes, JM, Jose M. Fuentes, Müller Ingrid, Jose M Fuentes, Hailu Asrat, Choi, Beak-San, Hailu, Asrat, Modolell, Manuel, Müller, I., Tamrat Abebe   +40 more
core   +2 more sources

Clinical Characteristics of Arginase 1 Deficiency: Natural History Insights From International Clinical Trials. [PDF]

J Inherit Metab Dis
ABSTRACT Arginase 1 deficiency (ARG1‐D) is an ultra‐rare inherited metabolic disorder of the urea cycle, caused by partial or complete loss of arginase 1 function, characterised by hyperargininaemia and a distinct, progressive neurological phenotype. The clinical development programme of pegzilarginase, a recombinant human ARG1 enzyme
Rudebeck M, Braverman N, Chang R, Enns GM, Ghosh A, Gorce M, Karall D, Sharma R, Shelkowitz E, Zori R, McNutt M.   +10 more
europepmc   +4 more sources

Physical, cognitive, and social status of patients with urea cycle disorders in Japan

Molecular Genetics and Metabolism Reports, 2021
Urea cycle disorders (UCDs) are inherited metabolic diseases that lead to hyperammonemia. Severe hyperammonemia adversely affects the brain. Therefore, we conducted a nationwide study between January 2000 and March 2018 to understand the present status ...
Jun Kido, Shirou Matsumoto, Tetsuya Ito, Shinichi Hirose, Kaori Fukui, Kanako Kojima-Ishii, Yuichi Mushimoto, Shinobu Yoshida, Mika Ishige, Norio Sakai, Kimitoshi Nakamura   +10 more
doaj   +1 more source

ALK1 controls hepatic vessel formation, angiodiversity, and angiocrine functions in hereditary hemorrhagic telangiectasia of the liver

Hepatology, EarlyView., 2022
Hepatic endothelial Alk1 signaling protects from development of vascular malformations while maintaining organ‐specific endothelial differentiation and angiocrine portmanteau of the names Wingless and Int‐1 signaling. Abstract Background and Aims In hereditary hemorrhagic telangiectasia (HHT), severe liver vascular malformations are associated with ...
Christian David Schmid, Victor Olsavszky, Manuel Reinhart, Vanessa Weyer, Felix A. Trogisch, Carsten Sticht, Manuel Winkler, Sina W. Kürschner, Johannes Hoffmann, Roxana Ola, Theresa Staniczek, Joerg Heineke, Beate K. Straub, Jens Mittler, Kai Schledzewski, Peter ten Dijke, Karsten Richter, Steven Dooley, Cyrill Géraud, Sergij Goerdt, Philipp‐Sebastian Koch   +20 more
wiley   +1 more source

Rescue of the Functional Alterations of Motor Cortical Circuits in Arginase Deficiency by Neonatal Gene Therapy [PDF]

, 2016
UnlabelledArginase 1 deficiency is a urea cycle disorder associated with hyperargininemia, spastic diplegia, loss of ambulation, intellectual disability, and seizures.
Liu, Xiao-Bo, Lipshutz, Gerald S, Golshani, Peyman, Cantero, Gloria, Cederbaum, Stephen D, Mervis, Ronald F, Lazaro, Maria T   +6 more
core   +1 more source

High intraluminal pressure promotes vascular inflammation via caveolin-1

Scientific Reports, 2021
The aetiology and progression of hypertension involves various endogenous systems, such as the renin angiotensin system, the sympathetic nervous system, and endothelial dysfunction.
Danielle L. Michell, Waled A. Shihata, Karen L. Andrews, Nurul Aisha Zainal Abidin, Ann-Maree Jefferis, Amanda K. Sampson, Natalie G. Lumsden, Olivier Huet, Marie-Odile Parat, Garry L. Jennings, Robert G. Parton, Kevin J. Woollard, David M. Kaye, Jaye P. F. Chin-Dusting, Andrew J. Murphy   +14 more
doaj   +1 more source

MAP kinase phosphatase-2 plays a critical role in response to infection by Leishmania mexicana [PDF]

, 2010
In this study we generated a novel dual specific phosphatase 4 (DUSP4) deletion mouse using a targeted deletion strategy in order to examine the role of MAP kinase phosphatase-2 (MKP-2) in immune responses.
Juliane Schroeder, Plevin Robin, Kurnik Magdalena, H. Adrienne McGachy, Shweash, M.S., Cadalbert Laurence C., H Adrienne McGachy, Callum M Sloss, James Alexander, Shweash Muhannad, Bryant, C.E., Laurence C Cadalbert, Cadalbert, L.C., Clare E Bryant, Laurence C. Cadalbert, Alexander, James, Mashael S Al-Mutairi, Muhannad Shweash, Al-Mutairi Mashael S., Al-Mutairi, M.S., Schroeder Juliane, Callum M. Sloss, Alexander James, Robin Plevin, Sloss Callum M., Schroeder, J., Plevin, R.J., Sloss, C.M., Mashael S. Al-Mutairi, McGachy, H.A., Clare E. Bryant, McGachy H. Adrienne, Bryant Clare E., Magdalena Kurnik, Kurnik, M.   +34 more
core   +3 more sources

Arginine depletion as a mechanism for the immune privilege of corneal allografts. [PDF]

, 2011
The cornea is an immune privileged tissue. Since arginase has been found to modulate T-cell function by depleting arginine, we investigated the expression of arginase in the cornea and its possible role in immune privilege using a murine transplant model.
Larkin, Daniel FP, George, Andrew J.T., Fu, Hongmei, Coe, D, Hongmei Fu, Chai, J-G, Zaher, S, David Coe, George, Andrew JT, Fu, H, Khan, A, Larkin, Daniel F.P., Jian-Guo Chai, Ingrid Müller, Kropf, P, Müller, Ingrid, Kropf, Pascale, Larkin, DFP, George, AJT, Adnan Khan, Khan, Adnan, Zaher, Sarah, Daniel F. P. Larkin, Mueller, I, Pascale Kropf, Coe, David, Sarah Zaher, Andrew J. T. George, Chai, Jian-Guo   +28 more
core   +1 more source

Generation of an inducible arginase‐1 deficient mouse model

The FASEB Journal, 2013
Arginase‐1 (Arg1) catalyzes the final step in the urea cycle to convert arginine to ornithine + urea. In the rarest of the urea cycle disorders, genetic deficiency of Arg1 results in hyperargininemia with occasional bouts of hyperammonemia, eventually leading to neurological problems and failure to thrive.
Kamalika Mukherjee, Laurel L Ballantyne, Angie Sin, Tim St. Amand, Colin D Funk   +4 more
openaire   +1 more source