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Patient-specific mutation of contact site protein Tomm70 causes neurodegeneration.

Disease models & mechanisms - 1 Apr 2025

Garg Vranda, Möbius Wiebke, Heinrich Ralf, Ruhwedel Torben, Perera Roshan Priyarangana, Scholz Patricia, Ischebeck Till, Salinas Gabriela, Dullin Christian, Göpfert Martin C, Engelmann Jacob, Dosch Roland, Geurten Bart R H

Abstract excerpt

TOMM70 is a receptor at the contact site between mitochondria and the endoplasmic reticulum, and TOMM70 has been identified as a risk gene for hereditary spastic paraplegia. Furthermore, de novo missense variants of TOMM70 have been identified to cause neurological impairments in two unrelated patients. Here, we show that mutant zebrafish ruehreip25ca also harbour a missense mutation in tomm70, affecting the same...

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Identifiers

PMID: 40151845
DOI: 10.1242/dmm.052029
PMCID: PMC12067081

Genes

TOMM70

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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