[HTML][HTML] Modelling mitochondrial disease in human pluripotent stem cells: what have we learned?
CL McKnight, YC Low, DA Elliott, DR Thorburn… - International Journal of …, 2021 - mdpi.com
Mitochondrial diseases disrupt cellular energy production and are among the most complex
group of inherited genetic disorders. Affecting approximately 1 in 5000 live births, they are …
group of inherited genetic disorders. Affecting approximately 1 in 5000 live births, they are …
[HTML][HTML] Inborn errors of metabolism: Lessons from iPSC models
R Escribá, R Ferrer-Lorente, Á Raya - Reviews in Endocrine and Metabolic …, 2021 - Springer
The possibility of reprogramming human somatic cells to pluripotency has opened
unprecedented opportunities for creating genuinely human experimental models of disease …
unprecedented opportunities for creating genuinely human experimental models of disease …
[HTML][HTML] Quantitative analysis of mitochondrial morphologies in human induced pluripotent stem cells for Leigh syndrome
Mitochondria are dynamic organelles with wide range of morphologies contributing to
regulating different signaling pathways and several cellular functions. Leigh syndrome (LS) …
regulating different signaling pathways and several cellular functions. Leigh syndrome (LS) …
[HTML][HTML] Generation and evaluation of isogenic iPSC as a source of cell replacement therapies in patients with Kearns Sayre syndrome
Kearns Sayre syndrome (KSS) is mitochondrial multisystem disorder with no proven
effective treatment. The underlying cause for multisystem involvement is the energy deficit …
effective treatment. The underlying cause for multisystem involvement is the energy deficit …
[HTML][HTML] Exploiting hiPSCs in Leber's hereditary optic neuropathy (LHON): present achievements and future perspectives
C Peron, A Maresca, A Cavaliere, A Iannielli… - Frontiers in …, 2021 - frontiersin.org
More than 30 years after discovering Leber's hereditary optic neuropathy (LHON) as the first
maternally inherited disease associated with homoplasmic mtDNA mutations, we still …
maternally inherited disease associated with homoplasmic mtDNA mutations, we still …
[HTML][HTML] Advances in mt-tRNA mutation-caused mitochondrial disease modeling: patients' brain in a dish
S Povea-Cabello, M Villanueva-Paz… - Frontiers in …, 2021 - frontiersin.org
Mitochondrial diseases are a heterogeneous group of rare genetic disorders that can be
caused by mutations in nuclear (nDNA) or mitochondrial DNA (mtDNA). Mutations in mtDNA …
caused by mutations in nuclear (nDNA) or mitochondrial DNA (mtDNA). Mutations in mtDNA …
[HTML][HTML] iPSC culture expansion selects against putatively actionable mutations in the mitochondrial genome
M Kosanke, C Davenport, M Szepes, L Wiehlmann… - Stem Cell Reports, 2021 - cell.com
Therapeutic application of induced pluripotent stem cell (iPSC) derivatives requires
comprehensive assessment of the integrity of their nuclear and mitochondrial DNA (mtDNA) …
comprehensive assessment of the integrity of their nuclear and mitochondrial DNA (mtDNA) …
Development of an in vitro Model to Explore the Impact of mtDNA Mutations on the Metabolism and Epigenome of Myogenic Cells
BJ O'Callaghan - 2021 - discovery.ucl.ac.uk
The work presented in this thesis describes the successful establishment of an in vitro model
of mitochondrial disease using hiPSC technology and targeted differentiation towards …
of mitochondrial disease using hiPSC technology and targeted differentiation towards …
[PDF][PDF] Deleciones en el DNA mitocondrial causantes del síndrome de Pearson: modelos celulares y aproximaciones terapéuticas.
S Emperador Ortíz, J Montoya Villarroya - core.ac.uk
Este trabajo ha sido financiado con fondo de los proyectos de investigación del Instituto de
Salud Carlos III FIS PI14/00005 y PI17/00021, del Gobierno de Aragón (Grupos …
Salud Carlos III FIS PI14/00005 y PI17/00021, del Gobierno de Aragón (Grupos …
Deleciones en el DNA mitocondrial causantes del síndrome de Pearson: modelos celulares y aproximaciones terapéuticas.
CJ Hernández Ainsa, S Emperador Ortíz… - zaguan.unizar.es
Las mitocondrias son el único orgánulo de las células animales que contiene su propio
DNA (DNA mitocondrial o mtDNA), una molécula circular de doble cadena que codifica 37 …
DNA (DNA mitocondrial o mtDNA), una molécula circular de doble cadena que codifica 37 …