Results 41 to 50 of about 415 (137)

Comparing CRISPR-Cas9 Gene Therapy Delivery Systems: Implications and Optimization for Hyperargininemia

Precision Nanomedicine
Hyperargininemia is a rare autosomal recessive metabolic disorder caused by a deficiency in the urea cycle enzyme arginase 1, resulting in severe systemic and neurological complications.
Jad Madani, Humza N. Zubair, Ghazi A. Saroya, Rachel E.N. Reyes, Rami Madani   +4 more
doaj   +1 more source

AAV-based gene therapy prevents neuropathology and results in normal cognitive development in the hyperargininemic mouse

, 2013
: Complete arginase I deficiency is the least severe urea cycle disorder, characterized by hyperargininemia and infrequent episodes of hyperammonemia.
Bhargava, R., Lee, E.K., Hu, C., et al., Marescau, B., De Deyn, P.   +5 more
core   +1 more source

Guanidino compounds inhibit acetylcholinesterase and butyrylcholinesterase activities: effect neuroprotector of vitamins E plus C

, 2010
Hyperargininemia is a metabolic disorder biochemically characterized by tissue accumulating of arginine and other guanidino compounds. Convulsions, lethargy and psychomotor delay or cognitive deterioration are predominant clinical features of this ...
Casagrande, Ana Carolina Mesquita, Delwing, Fabio, Delwing, Débora, Wyse, Angela Terezinha de Souza, Lima, Daniela Delwing de, Cruz, José Geraldo Pereira da, Wollinger, Luis Felipe   +6 more
core   +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

In vitro effects of L-arginine and guanidino compounds on NTPDase1 and 5'-nucleotidase activities from rat brain synaptosomes

, 2003
Tissue accumulation of arginine (Arg), N-acetylarginine (NA), argininic acid (AA) and homoarginine (HA) occurs in hyperargininemia, an inborn error of the urea cycle.
Morsch, Vera Maria, Morsch, André Luís Bittencourt, Silva, Adriane Cismoski da, Vieira, Vânia Lúcia, Wyse, Angela Terezinha de Souza, Balz, Daniela, Schetinger, Maria Rosa Chitolina   +6 more
core   +1 more source

Development of a Protein Scaffold for Arginine Sensing Generated through the Dissection of the Arginine-Binding Protein from Thermotoga maritima

, 2020
Arginine is one of the most important nutrients of living organisms as it plays a major role in important biological pathways. However, the accumulation of arginine as consequence of metabolic defects causes hyperargininemia, an autosomal recessive ...
Nicole Balasco, Alessia Ruggiero, Luigi Vitagliano, Giovanni Smaldone, Smaldone Giovanni, Ruggiero Alessia, Vitagliano Luigi, Balasco Nicole   +7 more
core   +1 more source

Hyperargininemia in an inducible arginase‐1 deficient mouse model

The FASEB Journal, 2013
We generated an inducible arginase‐1 (Arg1) deficient mouse model by crossing “floxed” Arg1 mice with the Cre‐ER‐T2 model (Arg1‐Cre). These Arg1‐Cre mice die about 2 weeks after tamoxifen administration regardless of the starting age of inducing the knockout and show signs of hyperammonemia and significantly elevated arginine levels (n=4–5; four time ...
Angie Sin, Laurel L Ballantyne, Kamalika Mukherjee, Tim St. Amand, Crystal McCracken, Valeriy Levandovskiy, Andreas Schulze, Colin D Funk   +7 more
openaire   +1 more source

Arginine exposure alters ectonucleotidase activities and morphology of zebrafish larvae (Danio rerio)

, 2013
Hyperargininemia is an inborn error of metabolism (IEM) characterized by tissue accumulation of arginine (Arg). Mental retardation and other neurological features are common symptoms in hyperargininemic patients.
Silva, Rosane Souza da, Capiotti, Katiucia Marques, Bonan, Carla Denise, Fazenda, Lidiane, Kist, Luiza Wilges, Menezes, Fabiano Peres, Nazário, Luiza Reali, Wyse, Angela Terezinha de Souza, Bogo, Mauricio Reis   +8 more
core   +1 more source

Mutations and common variants in the human arginase 1 (ARG1) gene: Impact on patients, diagnostics, and protein structure considerations

, 2018
The urea cycle disorder argininemia is caused by a defective arginase 1 (ARG1) enzyme resulting from mutations in the ARG1 gene. Patients generally develop hyperargininemia, spastic paraparesis, progressive neurological and intellectual impairment, and ...
Carmen Diez-Fernandez, Corinne Gemperle, Rüfenacht, Véronique, Johannes Häberle, Diez-Fernandez, Carmen, Véronique Rüfenacht, Fingerhut, Ralph, Häberle, Johannes; https://orcid.org/, Gemperle, Corinne, Ralph Fingerhut, Gemperle C, Fingerhut R, Diez-Fernandez C, Rüfenacht V, Häberle J   +14 more
core   +1 more source

Hepatic arginase deficiency fosters dysmyelination during postnatal CNS development.

, 2019
Deficiency of arginase is associated with hyperargininemia, and prominent features include spastic diplegia/tetraplegia, clonus, and hyperreflexia; loss of ambulation, intellectual disability and progressive neurological decline are other signs.
Lipshutz, Gerald S, Xiao-Bo Liu, Marcos Otero-Garcia, Brian Truong, Gerald S. Lipshutz, Cederbaum, Stephen D, Inma Cobos, Otero-Garcia, Marcos, Cobos, Inma, Lambert, Jenna R, Haney, Jillian R, Jillian R. Haney, Liu, Xiao-Bo, Jenna R. Lambert, Cantero, Gloria, Stephen D. Cederbaum, Gloria Cantero, Truong, Brian, Gropman, Andrea, Andrea Gropman   +19 more
core   +1 more source