Effects of homozygous PARK7 gene mutations L166P and M26I on BNIP3/BNIP3L interactions and ER-mitochondria proximity.

Abstract excerpt

Mutations in PARK7, which encodes DJ-1, cause autosomal recessive early-onset Parkinson's disease. DJ-1 contributes to mitochondrial homeostasis and ER-mitochondria communication, but how the pathogenic L166P and M26I variants affect BNIP3/BNIP3L-associated phenotypes remains incompletely understood. Here, we examined DJ-1 variant-dependent changes in BNIP3/BNIP3L interactions, mitochondrial morphology,...

Topics

• Membrane Proteins
• Endoplasmic Reticulum
• Mitochondria
• Humans
• Protein Deglycase DJ-1
• Animals