Publications by authors named "Molly Praest"
Article Synopsis
- CHKB is a gene that codes for an enzyme crucial for producing phosphatidylcholine, a key component of cell membranes.
- Inactivating this gene in mice leads to a type of muscular dystrophy, but intriguingly, levels of phosphatidylcholine don’t significantly change throughout the disease.
- The study shows that affected muscles initially struggle to break down fatty acids for energy, which leads to an increase in fat storage; however, using specific treatments can help restore energy production and protect muscle cells from damage.
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 patients and can cause heart failure and death.
View Article and Find Full Text PDFDetection of drug-induced dystrophin in patient muscle biopsy is a surrogate outcome measure for Duchenne muscular dystrophy. We sought to establish and validate an orthogonal approach to measurement of dystrophin protein and RNA in muscle biopsies. Validated methods were developed for dystrophin western blotting, mass spectrometry, immunostaining and reverse transcriptase PCR of biopsy mRNA using muscle biopsy standards.
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