Pathophysiological mechanisms of complications associated with propionic acidemia

H Marchuk, Y Wang, ZA Ladd, X Chen… - Pharmacology & …, 2023 - Elsevier
Propionic acidemia (PA) is a genetic metabolic disorder caused by mutations in the
mitochondrial enzyme, propionyl-CoA carboxylase (PCC), which is responsible for …

Cardiac complications of propionic and other inherited organic acidemias

KC Park, S Krywawych, E Richard… - Frontiers in …, 2020 - frontiersin.org
Clinical observations and experimental studies have determined that systemic acid-base
disturbances can profoundly affect the heart. A wealth of information is available on the …

Vericiguat alleviates ventricular remodeling and arrhythmias in mouse models of myocardial infarction via CaMKII signaling

T Chen, B Kong, W Shuai, Y Gong, J Zhang, H Huang - Life Sciences, 2023 - Elsevier
Aims Maladaptive ventricular remodeling is a major cause of ventricular arrhythmias
following myocardial infarction (MI) and adversely impacts the quality of life of affected …

Pantothenate kinase activation relieves coenzyme A sequestration and improves mitochondrial function in mice with propionic acidemia

C Subramanian, MW Frank, R Tangallapally… - Science translational …, 2021 - science.org
Propionic acidemia (PA) is a rare autosomal-recessive metabolic disease that arises from
mutations in propionyl-CoA (C3-CoA) carboxylase. Reduced enzyme activity slows C3-CoA …

The attenuated hepatic clearance of propionate increases cardiac oxidative stress in propionic acidemia

Y Wang, S Zhu, W He, H Marchuk, E Richard… - Basic Research in …, 2024 - Springer
Propionic acidemia (PA), arising from PCCA or PCCB variants, manifests as life-threatening
cardiomyopathy and arrhythmias, with unclear pathophysiology. In this work, propionyl-CoA …

Relief of CoA sequestration and restoration of mitochondrial function in a mouse model of propionic acidemia

C Subramanian, MW Frank… - Journal of Inherited …, 2023 - Wiley Online Library
Abstract Propionic acidemia (PA, OMIM 606054) is a devastating inborn error of metabolism
arising from mutations that reduce the activity of the mitochondrial enzyme propionyl‐CoA …

Metabolic perturbations mediated by propionyl-CoA accumulation in organs of mouse model of propionic acidemia

W He, Y Wang, EJ **e, MA Barry, GF Zhang - Molecular genetics and …, 2021 - Elsevier
Propionic acidemia (PA) is an autosomal recessive metabolic disorder after gene encoding
propionyl-CoA carboxylase, Pcca or Pccb, is mutated. This genetic disorder could develop …

Ca2+ mishandling in heart failure: Potential targets

A Val‐Blasco, M Gil‐Fernández, A Rueda… - Acta …, 2021 - Wiley Online Library
Ca2+ mishandling is a common feature in several cardiovascular diseases such as heart
failure (HF). In many cases, impairment of key players in intracellular Ca2+ homeostasis has …

Genetic and metabolic determinants of atrial fibrillation in a general population sample: the CHRIS study

DB Emmert, V Vukovic, N Dordevic, CX Weichenberger… - Biomolecules, 2021 - mdpi.com
Atrial fibrillation (AF) is a supraventricular arrhythmia deriving from uncoordinated electrical
activation with considerable associated morbidity and mortality. To expand the limited …

Targeting the TWEAK–Fn14 pathway prevents dysfunction in cardiac calcium handling after acute kidney injury

J Poveda, L González‐Lafuente… - The Journal of …, 2023 - Wiley Online Library
Heart and kidney have a closely interrelated pathophysiology. Acute kidney injury (AKI) is
associated with significantly increased rates of cardiovascular events, a relationship defined …