Concepedia

Cellular alterations identified in pluripotent stem cell-derived midbrain spheroids generated from a female patient with progressive external ophthalmoplegia and parkinsonism who carries a novel variation (p.Q811R) in the POLG1 gene

Margarita Chumarina, Kaspar Russ, Carla Azevedo, Andreas Heuer, Maria Pihl, Anna Collin, Eleonor Åsander Frostner, Eskil Elmér, Poul Hyttel, Graziella Cappelletti,

Acta Neuropathologica Communications · 2019 · 40 citations · 56 references

Open access

References

56

Dopamine neurons derived from human ES cells efficiently engraft in animal models of Parkinson’s disease

Sonja Kriks, Jaewon Shim, Jinghua Piao et al. · Nature · 2011 · 1.9K citations

Neurodegenerative Diseases, Neurobiology Of Disease, Synaptic Signaling +12

Mitochondrial transcription factor A is necessary for mtDNA maintance and embryogenesis in mice

Nils‐Göran Larsson, Jianming Wang, Hans Wilhelmsson et al. · Nature Genetics · 1998 · 1.6K citations

Developmental Biology, Mitochondrial Biogenesis, Mitochondrial Function +9

High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease

Andreas Bender, Kim J. Krishnan, Christopher M. Morris et al. · Nature Genetics · 2006 · 1.6K citations

Mitochondrial Function, Mitochondrial Dynamic, Genetics +8

Inhibition of NADH-linked oxidation in brain mitochondria by 1-methyl-4-phenyl-pyridine, a metabolite of the neurotoxin, 1-methyl-4-phenyl-1,2,5,6-tetrahydropyridine

William J. Nicklas, I Vyas, Richard E. Heikkila · Life Sciences · 1985 · 1.3K citations

Nadh-linked Oxidation, Aldehyde Dehydrogenase, Biochemistry +11

Mitochondrial transcription factor A regulates mtDNA copy number in mammals

Mats I. Ekstrand · Human Molecular Genetics · 2004 · 903 citations · Full text

Dna, Genetics, Genomic Mechanism +18