Associated Papers
Generation of an isogenic human induced pluripotent stem cell line with a mutant propionyl-CoA carboxylase α subunit.
Tao T et al.
Orphanet Journal of Rare Diseases, 2026
Metabolic flux analysis in hiPSC-CMs reveals insights into cardiac dysfunction in propionic acidemia.
Richard E et al.
Cellular and Molecular Life Sciences : Cmls, 2025
Characterizing the mechanism of action for mRNA therapeutics for the treatment of propionic acidemia, methylmalonic acidemia, and phenylketonuria.
Baek R et al.
Nature Communications, 2024
Regulating PCCA gene expression by modulation of pseudoexon splicing patterns to rescue enzyme activity in propionic acidemia.
Spangsberg Petersen US et al.
Molecular Therapy. Nucleic Acids, 2024
Systemic gene therapy using an AAV44.9 vector rescues a neonatal lethal mouse model of propionic acidemia.
Chandler RJ et al.
Molecular Therapy. Methods & Clinical Development, 2023
Prevalence of propionic acidemia in China.
Zhang Y et al.
Orphanet Journal of Rare Diseases, 2023
Pathophysiological mechanisms of complications associated with propionic acidemia.
Marchuk H et al.
Pharmacology & Therapeutics, 2023
Translational Pharmacokinetic/Pharmacodynamic Model for mRNA-3927, an Investigational Therapeutic for the Treatment of Propionic Acidemia.
Attarwala H et al.
Nucleic Acid Therapeutics, 2023
Relief of CoA sequestration and restoration of mitochondrial function in a mouse model of propionic acidemia.
Subramanian C et al.
Journal of Inherited Metabolic Disease, 2023
Development of simple and effective PCR based assay to detect PCCA mutation (c.425G > A) among Saudi carriers and functional study of the homozygous PCCA mutations.
Al-Asmari A et al.
Saudi Journal of Biological Sciences, 2022
O-GlcNAcylation enhances CPS1 catalytic efficiency for ammonia and promotes ureagenesis.
Soria LR et al.
Nature Communications, 2022
Propionic acidemia in mice: Liver acyl-CoA levels and clinical course.
Zhao C et al.
Molecular Genetics and Metabolism, 2022
Genetic and Metabolic Determinants of Atrial Fibrillation in a General Population Sample: The CHRIS Study.
Emmert DB et al.
Biomolecules, 2021
Pantothenate kinase activation relieves coenzyme A sequestration and improves mitochondrial function in mice with propionic acidemia.
Subramanian C et al.
Science Translational Medicine, 2021
Dual mRNA therapy restores metabolic function in long-term studies in mice with propionic acidemia.
Jiang L et al.
Nature Communications, 2020
Treatment with antioxidants ameliorates oxidative damage in a mouse model of propionic acidemia.
Rivera-Barahona A et al.
Molecular Genetics and Metabolism, 2017
In vivo evidence of mitochondrial dysfunction and altered redox homeostasis in a genetic mouse model of propionic acidemia: Implications for the pathophysiology of this disorder.
Gallego-Villar L et al.
Free Radical Biology & Medicine, 2016
Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias.
Nizon M et al.
Orphanet Journal of Rare Diseases, 2013
Generation of a hypomorphic model of propionic acidemia amenable to gene therapy testing.
Guenzel AJ et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2013
Functional characterization of PCCA mutations causing propionic acidemia.
Clavero S et al.
Biochimica Et Biophysica Acta, 2002
Propionic acidemia: mutation update and functional and structural effects of the variant alleles.
Desviat LR et al.
Molecular Genetics and Metabolism, 0