Mamta Upadhyay
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View article: A role for BCL2L13 and autophagy in germline purifying selection of mtDNA
A role for BCL2L13 and autophagy in germline purifying selection of mtDNA Open
Mammalian mitochondrial DNA (mtDNA) is inherited uniparentally through the female germline without undergoing recombination. This poses a major problem as deleterious mtDNA mutations must be eliminated to avoid a mutational meltdown over g…
View article: A role for BCL2L13 and autophagy in germline purifying selection of mtDNA
A role for BCL2L13 and autophagy in germline purifying selection of mtDNA Open
Mammalian mitochondrial DNA (mtDNA) is inherited uniparentally through the female germline without undergoing recombination. This poses a major problem as deleterious mtDNA mutations must be eliminated to avoid a mutational meltdown over g…
View article: Modulation of mtDNA copy number ameliorates the pathological consequences of a heteroplasmic mtDNA mutation in the mouse
Modulation of mtDNA copy number ameliorates the pathological consequences of a heteroplasmic mtDNA mutation in the mouse Open
The severity of mitochondrial disease caused by mutations of mtDNA does depend on the absolute amount of wild-type mtDNA.
View article: Correction to: Interdependence of laforin and malin proteins for their stability and functions could underlie the molecular basis of locus heterogeneity in Lafora disease
Correction to: Interdependence of laforin and malin proteins for their stability and functions could underlie the molecular basis of locus heterogeneity in Lafora disease Open
View article: Loss of laforin or malin results in increased Drp1 level and concomitant mitochondrial fragmentation in Lafora disease mouse models
Loss of laforin or malin results in increased Drp1 level and concomitant mitochondrial fragmentation in Lafora disease mouse models Open