[HTML][HTML] Minireview on glutamine synthetase deficiency, an ultra-rare inborn error of amino acid biosynthesis
M Spodenkiewicz, C Diez-Fernandez, V Rüfenacht… - Biology, 2016 - mdpi.com
Glutamine synthetase (GS) is a cytosolic enzyme that produces glutamine, the most
abundant free amino acid in the human body. Glutamine is a major substrate for various …
abundant free amino acid in the human body. Glutamine is a major substrate for various …
Mutations in the Human Argininosuccinate Synthetase (ASS1) Gene, Impact on Patients, Common Changes, and Structural Considerations
C Diez‐Fernandez, V Rüfenacht, J Häberle - Human Mutation, 2017 - Wiley Online Library
Citrullinemia type 1 is an autosomal recessive urea cycle disorder caused by defects in the
argininosuccinate synthetase (ASS) enzyme due to mutations in ASS1 gene. An impairment …
argininosuccinate synthetase (ASS) enzyme due to mutations in ASS1 gene. An impairment …
[HTML][HTML] Autism spectrum disorder associated with low serotonin in CSF and mutations in the SLC29A4 plasma membrane monoamine transporter (PMAT) gene
D Adamsen, V Ramaekers, HTB Ho, C Britschgi… - Molecular autism, 2014 - Springer
Background Patients with autism spectrum disorder (ASD) may have low brain serotonin
concentrations as reflected by the serotonin end-metabolite 5-hydroxyindolacetic acid …
concentrations as reflected by the serotonin end-metabolite 5-hydroxyindolacetic acid …
Mutations and common variants in the human arginase 1 (ARG1) gene: Impact on patients, diagnostics, and protein structure considerations
C Diez‐Fernandez, V Rüfenacht, C Gemperle… - Human …, 2018 - Wiley Online Library
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 …
resulting from mutations in the ARG1 gene. Patients generally develop hyperargininemia …
Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia: from attention deficit to severe dystonia and intellectual disability
FJ van Spronsen, N Himmelreich… - Journal of medical …, 2018 - jmg.bmj.com
Background Autosomal recessive mutations in DNAJC12, encoding a cochaperone of
HSP70 with hitherto unknown function, were recently described to lead to …
HSP70 with hitherto unknown function, were recently described to lead to …
[HTML][HTML] O-GlcNAcylation enhances CPS1 catalytic efficiency for ammonia and promotes ureagenesis
LR Soria, G Makris, AM D'Alessio, A De Angelis… - Nature …, 2022 - nature.com
Life-threatening hyperammonemia occurs in both inherited and acquired liver diseases
affecting ureagenesis, the main pathway for detoxification of neurotoxic ammonia in …
affecting ureagenesis, the main pathway for detoxification of neurotoxic ammonia in …
[HTML][HTML] The first knock-in rat model for glutaric aciduria type I allows further insights into pathophysiology in brain and periphery
MG Melo, N Remacle, HP Cudré-Cung, C Roux… - Molecular Genetics and …, 2021 - Elsevier
Glutaric aciduria type I (GA-I, OMIM# 231670) is an inborn error of metabolism caused by a
deficiency of glutaryl-CoA dehydrogenase (GCDH). Patients develop acute encephalopathic …
deficiency of glutaryl-CoA dehydrogenase (GCDH). Patients develop acute encephalopathic …
[HTML][HTML] Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis
C Diez-Fernandez, V Rüfenacht, S Santra… - Genetics in …, 2016 - nature.com
Purpose: Four mitochondrial metabolic liver enzymes require bicarbonate, which is provided
by the carbonic anhydrase isoforms VA (CAVA) and VB (CAVB). Defective hepatic …
by the carbonic anhydrase isoforms VA (CAVA) and VB (CAVB). Defective hepatic …
Mutations and Polymorphisms in the Human Argininosuccinate Lyase (ASL) Gene
C Balmer, AV Pandey, V Rüfenacht… - Human …, 2014 - Wiley Online Library
Argininosuccinate lyase deficiency (ASLD) is caused by a defect of the urea cycle enzyme
argininosuccinate lyase (ASL) encoded by the ASL gene. Patients often present early after …
argininosuccinate lyase (ASL) encoded by the ASL gene. Patients often present early after …
[HTML][HTML] Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing
S Bijarnia-Mahay, J Häberle, AB Jalan, RD Puri… - Orphanet journal of rare …, 2018 - Springer
Abstract Background Urea cycle disorders (UCDs) are inherited metabolic disorders that
present with hyperammonemia, and cause significant mortality and morbidity in infants and …
present with hyperammonemia, and cause significant mortality and morbidity in infants and …