Understanding molecular mechanisms in propionic acidemia and ...

The main molecular mechanism of the mutations is related to protein instability, presumably due to a folding defect, although some mutant ...

... Propionic acidemia (PA; MIM#606054) is a rare and potentially lethal inherited metabolic disorder, caused by pathogenic variants in the propionyl-coenzyme A ...

Understanding the Pathogenesis of Cardiac Complications in ...

Propionic acidemia (PA; MIM #606054) is a rare organic aciduria due to the inherited deficiency of the mitochondrial enzyme propionyl-CoA ...

Understanding acute metabolic decompensation in propionic and ...

Propionic acidemia (PA) and isolated methylmalonic acidemia (MMA) are disorders affecting the catabolic pathway of the branched-chain amino ...

Understanding molecular mechanisms in propionic ... - Altmetric

Readers on ; Understanding molecular mechanisms in propionic acidemia and investigated therapeutic strategies · Expert Opinion on Orphan Drugs, September 2015.

Understanding the Pathogenesis of Cardiac Complications in ...

The guidelines for the management of patients affected by propionic acidemia (PA) recommend standard cardiac therapy in the presence of ...

Understanding molecular mechanisms in propionic acidemia ... - OUCI

Publications that cite this publication · Messenger RNA as a personalized therapy: The moment of truth for rare metabolic diseases · Generation and ...

Propionic Acidemia - an overview | ScienceDirect Topics

Propionic acidemia (PA) is an autosomal recessive IEM caused by deficiency of propionyl-CoA carboxylase, a mitochondrial biotin-dependent enzyme.

Research reveals new treatment strategy for propionic acidemia

Propionic acidemia is caused by mutations in an enzyme called propionyl-CoA carboxylase. CoA is a helper molecule essential for energy ...

Propionic Acidemia: Overview, Etiology and Pathophysiology ...

Propionic acidemia is an autosomal recessive, inherited, metabolic disorder that is caused by a defective form of the enzyme propionyl-coenzyme A (CoA) ...

Pathophysiology of propionic and methylmalonic acidemias. Part 1 ...

Over the last decades, advances in clinical care for patients suffering from propionic acidemia (PA) and isolated methylmalonic acidemia ...

Pathophysiological mechanisms of complications associated with ...

Propionic acidemia (PA) is a genetic metabolic disorder caused by mutations in the mitochondrial. 28 enzyme, propionyl-CoA carboxylase (PCC), ...

PAFoundation - Propionic Acidemia Foundation

Propionic Acidemia (PA) is primarily caused by an enzymatic defect, propionyl-CoA carboxylase (PCC), in the catabolic pathway of valine, isoleucine and other ...

Studying a propionic acidaemia mouse model reveals epigenetic ...

5 References · Understanding molecular mechanisms in propionic acidemia and investigated therapeutic strategies · Metabolic perturbations mediated by propionyl- ...

Intellectual disability and autism in propionic acidemia: a biomarker ...

Propionic acidemia (PA) is an autosomal recessive condition (OMIM #606054), wherein pathogenic variants in PCCA and PCCB impair the activity ...

Interorgan amino acid interchange in propionic acidemia

Propionic acidemia is an inborn error of metabolism caused by a deficiency in the mitochondrial enzyme propionyl-CoA carboxylase that ...

Propionic Acidemia Foundation

Cardiac disease has a high prevalence among patients with propionic acidemia (PA). The pathological mechanism remains largely unknown.

Cardiac Complications of Propionic and Other Inherited Organic ...

The article identifies the most promising candidates for molecular mechanisms that become aberrantly engaged by propionate anions (and its metabolites), and ...

Propionic acidemia: clinical course and outcome in 55 pediatric and ...

Propionic acidemia is an inherited disorder caused by deficiency of propionyl-CoA carboxylase. Although it is one of the most frequent ...

Cardiac Complications in Patients with Propionic Acidemia

Propionic acidemia, is an autosomal recessive disorder due to the deficiency of the enzyme propionyl?coenzyme A carboxylase, which is a ...