Article

HSP60 chaperone deficiency disrupts the mitochondrial matrix proteome and dysregulates cholesterol synthesis

2024-02-02

Abstract excerpt

<h4>Summary</h4> Mitochondrial proteostasis is critical for cellular function and survival. HSP60 is a molecular chaperone that interacts with more than 260 mitochondrial matrix proteins to assist in their folding and few genetic variants of HSP60 are compatible with life. The few reported human patients with HSP60 variants show phenotypes of neurodevelopmental delay associated with brain hypomyelination. It is c...

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Literature Corpus work: b3c4ce1e-5b16-5439-9348-239cbe1afb89
DOI: 10.1101/2024.01.31.578131

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