Elevated Cholesterol in ATAD3 Mutants is a Compensatory Mechanism That Leads to Membrane Cholesterol Aggregation.
Mikel Munoz-Oreja,Abigail Sandoval,Ove Bruland,Diego Perez-Rodriguez,Uxoa Fernandez-Pelayo,Amaia Lopez de Arbina,Marina Villar-Fernandez,Haizea Hernandez-Eguiazu, Ixiar Hernandez,Yohan Park,Leire Goicoechea, Nerea Pascual-Frias,Carmen Garcia-Ruiz,Jose Fernandez-Checa,Itxaso Marti-Carrera,Francisco Javier Gil-Bea,Mazahir T. Hasan,Matthew E. Gegg,Cecilie Bredrup,Per-Morten Knappskog, Gorka Gerenu-Lopetegui,Kristin N. Varhaug,Laurence A. Bindoff,Antonella Spinazzola,Wan Hee Yoon,Ian J. Holt Brain（2024）
Key words
mitochondrial disease,cholesterol disorders,lysosomes,ATAD3,AAA(+) ATPase,lysosomal storage disorders
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