Associated Papers
Hotspots for Disease-Causing Mutations in the Mitochondrial TIM23 Import Complex.
Jain S et al.
Genes, 2024
Mitochondrial protein import dysfunction: mitochondrial disease, neurodegenerative disease and cancer.
Palmer CS et al.
Febs Letters, 2021
Skeletal Phenotypes Due to Abnormalities in Mitochondrial Protein Homeostasis and Import.
Zhao T et al.
International Journal of Molecular Sciences, 2020
A novel homozygous PAM16 mutation in a patient with a milder phenotype and longer survival.
Moosa S et al.
American Journal of Medical Genetics. Part A, 2016
Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage.
Komor AC et al.
Nature, 2016
27096365 (PubMed )
Supplement: NIHMS774092-supplement-1.pdf
The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasia.
Mehawej C et al.
Plos Genetics, 2014
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