research Protein kinase C is a key target for attenuation of Leigh syndrome by rapamycin
This study found that in a mouse model of Leigh syndrome, rapamycin alters brain proteome and may extend survival by targeting protein kinase C.
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5 / 520 results research Molecular–clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load
This study found significant variation in tissue mutant load in individuals with the T8993G mutation, which complicates genetic counseling and may inform genotype-phenotype correlations, especially using hair bulb mtDNA analysis.
research Protein Kinase C Downregulation upon Rapamycin Treatment Attenuates Neuroinflammation and Mitochondrial Disease
This study suggests that inhibiting PKC, similar to rapamycin treatment, can extend lifespan and reduce neurological symptoms and inflammation in mice with mitochondrial dysfunction, potentially involving the mTORC2 pathway.
research PKC downregulation upon rapamycin treatment attenuates mitochondrial disease
Martin-Perez et al. show that rapamycin's beneficial effects in a mouse model of Leigh syndrome are linked to the downregulation of protein kinase C.
research A novel homozygous variant in the dsp gene underlies the first case of non-syndromic form of alopecia
This study reports the first familial case of alopecia linked to a novel homozygous variant in the DSP gene, which did not coincide with heart abnormalities despite prior associations.
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