Article

SLC25A46 localizes to sites of mitochondrial fission and fusion and loss of function variants alter the oligomerization states of MFN2 and OPA1

2022-09-17

Abstract excerpt

<h4>ABSTRACT</h4> Mutations in SLC25A46 , coding for an outer mitochondrial membrane protein, underlie a wide spectrum of neurodegenerative diseases associated with alterations in mitochondrial morphology, but the precise role of the protein remains unknown. We established an SLC25A46 knock-out cell line in human fibroblasts and studied the pathogenicity of three different variants (p.T142I, p.R257Q, p.E335D) in...

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Literature Corpus work: 78896a5e-34b3-5209-b6ac-9573814263b5
DOI: 10.1101/2022.09.16.508286

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