Mechanism of action and therapeutic route for a muscular dystrophy caused by a genetic defect in lipid metabolism

CHKB encodes one of two mammalian choline kinase enzymes that catalyze the first step in the synthesis of the membrane phospholipid phosphatidylcholine. In humans and mice, inactivation of the CHKB gene (Chkb in mice) causes a recessive rostral-to-caudal muscular dystrophy. Using Chkb knockout mice,...

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Detalles Bibliográficos
Autores principales: Tavasoli, Mahtab, Lahire, Sarah, Sokolenko, Stanislav, Novorolsky, Robyn, Reid, Sarah Anne, Lefsay, Abir, Otley, Meredith O. C., Uaesoontrachoon, Kitipong, Rowsell, Joyce, Srinivassane, Sadish, Praest, Molly, MacKinnon, Alexandra, Mammoliti, Melissa Stella, Maloney, Ashley Alyssa, Moraca, Marina, Pedro Fernandez-Murray, J., McKenna, Meagan, Sinal, Christopher J., Nagaraju, Kanneboyina, Robertson, George S., Hoffman, Eric P., McMaster, Christopher R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8943011/
https://www.ncbi.nlm.nih.gov/pubmed/35322809
http://dx.doi.org/10.1038/s41467-022-29270-z

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