A mouse model of inherited choline kinase β-deficiency presents with specific cardiac abnormalities and a predisposition to arrhythmia

The CHKB gene encodes choline kinase β, which catalyzes the first step in the biosynthetic pathway for the major phospholipid phosphatidylcholine. Homozygous loss-of-function variants in human CHKB are associated with a congenital muscular dystrophy. Dilated cardiomyopathy is present in some CHKB pa...

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Detalles Bibliográficos
Autores principales: Tavasoli, Mahtab, Feridooni, Tiam, Feridooni, Hirad, Sokolenko, Stanislav, Mishra, Abhishek, Lefsay, Abir, Srinivassane, Sadish, Reid, Sarah Anne, Rowsell, Joyce, Praest, Molly, MacKinnon, Alexandra, Mammoliti, Melissa, Maloney, Ashley Alyssa, Moraca, Marina, Uaesoontrachoon, Kitipong, Nagaraju, Kanneboyina, Hoffman, Eric P., Pasumarthi, Kishore B.S., McMaster, Christopher R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Biochemistry and Molecular Biology 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8913350/
https://www.ncbi.nlm.nih.gov/pubmed/35151687
http://dx.doi.org/10.1016/j.jbc.2022.101716

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