Cargando…
Mitochondrial DNA depletion and fatal infantile hepatic failure due to mutations in the mitochondrial polymerase γ (POLG) gene: a combined morphological/enzyme histochemical and immunocytochemical/biochemical and molecular genetic study
Combined morphological, immunocytochemical, biochemical and molecular genetic studies were performed on skeletal muscle, heart muscle and liver tissue of a 16-months boy with fatal liver failure. The pathological characterization of the tissues revealed a severe depletion of mtDNA (mitochondrial DNA...
Autores principales: | Müller-Höcker, J, Horvath, R, Schäfer, S, Hessel, H, Müller-Felber, W, Kühr, J, Copeland, W C, Seibel, P |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Blackwell Publishing Ltd
2011
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3822808/ https://www.ncbi.nlm.nih.gov/pubmed/19538466 http://dx.doi.org/10.1111/j.1582-4934.2009.00819.x |
Ejemplares similares
-
Characterization of the human homozygous R182W POLG2 mutation in mitochondrial DNA depletion syndrome
por: Hoff, Kirsten E., et al.
Publicado: (2018) -
Whole-Exome Sequencing Identifies a Novel POLG Frameshift Variant in an Adult Patient Presenting with Progressive External Ophthalmoplegia and Mitochondrial DNA Depletion
por: Kurtz, Justin, et al.
Publicado: (2021) -
Valproic acid triggers increased mitochondrial biogenesis in POLG-deficient fibroblasts
por: Sitarz, Kamil S., et al.
Publicado: (2014) -
Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations
por: Ashley, Neil, et al.
Publicado: (2008) -
PARP1 depletion improves mitochondrial and heart function in Chagas disease: Effects on POLG dependent mtDNA maintenance
por: Wen, Jake Jianjun, et al.
Publicado: (2018)