Human model of primary carnitine deficiency cardiomyopathy reveals ferroptosis as a novel mechanism

Primary carnitine deficiency (PCD) is an autosomal recessive monogenic disorder caused by mutations in SLC22A5. This gene encodes for OCTN2, which transports the essential metabolite carnitine into the cell. PCD patients suffer from muscular weakness and dilated cardiomyopathy. Two OCTN2-defective h...

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Detalles Bibliográficos
Autores principales: Loos, Malte, Klampe, Birgit, Schulze, Thomas, Yin, Xiaoke, Theofilatos, Konstantinos, Ulmer, Bärbel Maria, Schulz, Carl, Behrens, Charlotta S., van Bergen, Tessa Diana, Adami, Eleonora, Maatz, Henrike, Schweizer, Michaela, Brodesser, Susanne, Skryabin, Boris V., Rozhdestvensky, Timofey S., Bodbin, Sara, Stathopoulou, Konstantina, Christ, Torsten, Denning, Chris, Hübner, Norbert, Mayr, Manuel, Cuello, Friederike, Eschenhagen, Thomas, Hansen, Arne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10679537/
https://www.ncbi.nlm.nih.gov/pubmed/37802072
http://dx.doi.org/10.1016/j.stemcr.2023.09.002

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10679537/
https://www.ncbi.nlm.nih.gov/pubmed/37802072
http://dx.doi.org/10.1016/j.stemcr.2023.09.002

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