Results 11 to 20 of about 116,128,249 (216)

Proof-of-Concept Gene Editing for the Murine Model of Inducible Arginase-1 Deficiency [PDF]

Scientific Reports, 2017
Arginase-1 deficiency in humans is a rare genetic disorder of metabolism resulting from a loss of arginase-1, leading to impaired ureagenesis, hyperargininemia and neurological deficits. Previously, we generated a tamoxifen-inducible arginase-1 deficient
Yuan Yan Sin, Phillipe R. Price, Laurel L. Ballantyne, Colin D. Funk   +3 more
doaj   +7 more sources

ACMG/AMP variant classification framework in arginase 1 deficiency: Implications for birth prevalence estimates and diagnostics [PDF]

Genetics in Medicine Open
Purpose: Arginase 1 (ARG1) deficiency manifests with hyperargininemia and progressive neurological impairment. Recent estimates of birth prevalence using allele frequencies of ARG1 variants do not sufficiently distinguish benign from pathogenic variants.
Jessie M. Cameron, Mayowa Azeez Osundiji, Rory J. Olson, Bukola A. Olarewaju, Andreas Schulze   +4 more
doaj   +6 more sources

Disease burden among patients with Arginase 1 deficiency and their caregivers: A multinational, cross‐sectional survey [PDF]

JIMD Reports
Arginase 1 deficiency (ARG1‐D) is an ultrarare, metabolic disease which may cause spastic paraplegia, cognitive deficiency, seizures, and ultimately severe disability.
Sara Olofsson, Sofia Löfvendahl, Julia Widén, Lena Jacobson, Peter Lindgren, Karolina M. Stepien, Jean‐Baptiste Arnoux, Maria Luz Couce Pico, Elisa Leão Teles, Mattias Rudebeck   +9 more
doaj   +5 more sources

Plasma Arginine Levels in Arginase Deficiency in the “Real World”

Molecular Genetics and Metabolism Reports
Background: Deficiency of arginase-1, the final enzyme in the urea cycle, causes a distinct clinical syndrome and is characterized biochemically by a high level of plasma arginine.
Judy Z Louie
exaly   +4 more sources

The Role and Control of Arginine Levels in Arginase 1 Deficiency [PDF]

Journal of Inherited Metabolic Disease, 2023
AbstractArginase 1 Deficiency (ARG1‐D) is a rare urea cycle disorder that results in persistent hyperargininemia and a distinct, progressive neurologic phenotype involving developmental delay, intellectual disability, and spasticity, predominantly affecting the lower limbs and leading to mobility impairment.
George A Diaz, Stephen Cederbaum
exaly   +4 more sources

Arginase 1 deficiency presenting as complicated hereditary spastic paraplegia. [PDF]

Cold Spring Harb Mol Case Stud, 2022
INTRODUCTION: Argininemia or arginase deficiency is a metabolic disorder caused by pathogenic variants in ARG1 and consists of a variable association of progressive spastic paraplegia, intellectual disability, and seizures. Hereditary spastic paraplegia (
Freua F, Almeida MEC, Nóbrega PR, Paiva ARB, Della-Ripa B, Cunha P, Macedo-Souza LI, Bueno C, Lynch DS, Houlden H, Lucato LT, Kok F.   +11 more
europepmc   +6 more sources

Clinical Effect and Safety Profile of Pegzilarginase in Patients With Arginase 1 Deficiency [PDF]

Journal of Inherited Metabolic Disease, 2021
AbstractHyperargininemia in patients with arginase 1 deficiency (ARG1‐D) is considered a key driver of disease manifestations, including spasticity, developmental delay, and seizures. Pegzilarginase (AEB1102) is an investigational enzyme therapy which is being developed as a novel arginine lowering approach.
George A Diaz, Andreas Schulze, Leslie S Sloan   +2 more
exaly   +6 more sources

Arginase-1 deficiency

Journal of Molecular Medicine, 2015
Arginase-1 (ARG1) deficiency is a rare autosomal recessive disorder that affects the liver-based urea cycle, leading to impaired ureagenesis. This genetic disorder is caused by 40+ mutations found fairly uniformly spread throughout the ARG1 gene ...
Sin, Yuan Yan, Baron, Garrett, Schulze, Andreas, Funk, Colin D.   +3 more
core   +3 more sources

Late onset arginase deficiency presenting with encephalopathy and midbrain hyperintensity

Annals of Indian Academy of Neurology, 2016
Urea cycle disorders (UCD) are very rare metabolic disorders that present with encephalopathy and hyperammonemia. Of the UCDs, Arginase deficiency (ARD) is the rarest and presents in childhood with a progressive spastic diplegia or seizures.
Boby Varkey Maramattom, Rajat Raja, Anuroop Balagopal   +2 more
doaj   +2 more sources

Protective effects of berbamine against arginase-1 deficiency-induced injury in human brain microvascular endothelial cells [PDF]

Frontiers in Pharmacology
Endothelial cell dysfunction plays a crucial role in the early development of cerebral small vessel disease (CSVD). Arginase-1 (ARG1) is expressed in endothelial cells, and its deficiency may exacerbate cerebrovascular damage by increasing reactive ...
Xiaolan Wei, Weiwei Li, Zixuan Chen, Jintu Chen, Yun Chen, Jiangping Cai, Huasong Lin   +6 more
doaj   +2 more sources