Elevated cholesterol in ATAD3 mutants is a compensatory mechanism that leads to membrane cholesterol aggregation.

doi:10.1093/brain/awae018

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Article

Elevated cholesterol in ATAD3 mutants is a compensatory mechanism that leads to membrane cholesterol aggregation.

Brain : a journal of neurology - 3 May 2024

Muñoz-Oreja Mikel, Sandoval Abigail, Bruland Ove, Perez-Rodriguez Diego, Fernandez-Pelayo Uxoa, de Arbina Amaia Lopez, Villar-Fernandez Marina, Hernández-Eguiazu Haizea, Hernández Ixiar, Park Yohan, Goicoechea Leire, Pascual-Frías Nerea, Garcia-Ruiz Carmen, Fernandez-Checa Jose, Martí-Carrera Itxaso, Gil-Bea Francisco Javier, Hasan Mazahir T, Gegg Matthew E, Bredrup Cecilie, Knappskog Per-Morten, Gereñu-Lopetegui Gorka, Varhaug Kristin N, Bindoff Laurence A, Spinazzola Antonella, Yoon Wan Hee, Holt Ian J

Abstract excerpt

Aberrant cholesterol metabolism causes neurological disease and neurodegeneration, and mitochondria have been linked to perturbed cholesterol homeostasis via the study of pathological mutations in the ATAD3 gene cluster. However, whether the cholesterol changes were compensatory or contributory to the disorder was unclear, and the effects on cell membranes and the wider cell were also unknown. Using...

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PMID: 38242545
DOI: 10.1093/brain/awae018
PMCID: PMC11068212

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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