Article

Generation of a medaka fish model of propionic acidemia for development of novel therapies

2016-01-01

Abstract excerpt

Propionic acidemia (PA) is an autosomal recessive inborn error of metabolism caused by deficiency of the mitochondrial enzyme propionyl-CoA carboxylase (PCC). The disease presents with acute, recurrent and life-threatening crises of metabolic decompensation starting from the newborn period. Patients also suffer from multi-organ complications, neurological dysfunction, and cardiomyopathy. Despite available treatmen...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 837fdc39-a7aa-5d46-b4f4-b1749d08bc0c
DOI: 10.21954/ou.ro.0000bbe6

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Generation of a medaka fish model of propionic acidemia for development of novel therapiesDOI 10.21954/ou.ro.0000bbe6Read

AAV-Mediated Dual-Gene Therapy Restores Metabolic Function in Mice with Propionic AcidemiaSemantic proximity Read

Prevalence of propionic acidemia in ChinaSemantic proximity Read

Heart and heart-liver transplantation in Amish patients with propionic acidemia.Semantic proximity Read

[Phenotypes and genotypes of 78 patients with propionic acidemia].Semantic proximity Read

Evaluation of the Clinical, Biochemical, Genotype, and Prognosis of Propionic Acidemia in 133 Patients from ChinaSemantic proximity Read

Severe neurometabolic phenotype in <i>npc1</i> <sup>-/-</sup> zebrafish with a C-terminal mutationSemantic proximity Read

Late-onset propionic acidemia with epilepsy due to compound heterozygous variants in the PCCB gene: a case report and literature reviewSemantic proximity Read

Metabolic flux analysis in hiPSC-CMs reveals insights into cardiac dysfunction in propionic acidemiaSemantic proximity Read

Zebrafish model of human Zellweger syndrome reveals organ specific accumulation of distinct fatty acid species and widespread gene expression changesSemantic proximity Read

Adeno-associated virus serotype 8 gene transfer rescues a neonatal lethal murine model of propionic acidemia.Semantic proximity Read

Advancing human disease research with fish evolutionary mutant models.Semantic proximity Read

Propionic acidemia as a cause of adult-onset dilated cardiomyopathy.Semantic proximity Read