Publications by authors named "Natalya M Wells"
Pathogenic variants in HMGCR were recently linked to a limb-girdle muscular dystrophy (LGMD) phenotype. The protein product HMG CoA reductase (HMGCR) catalyzes a key component of the cholesterol synthesis pathway. The two other muscle diseases associated with HMGCR, statin-associated myopathy (SAM) and autoimmune anti-HMGCR myopathy, are not inherited in a Mendelian pattern.
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- Heart failure (HF) is a common heart problem, but scientists don't completely understand why it happens.
- A specific splicing factor called hnRNPL gets more active in the hearts of mice and people with heart failure.
- Researchers found that hnRNPL helps control how certain proteins are made in heart cells, and problems with it could contribute to heart failure.
Pathogenic variants in were recently linked to a limb-girdle muscular dystrophy (LGMD) phenotype. The protein product HMG CoA reductase (HMGCR) catalyzes a key component of the cholesterol synthesis pathway. The two other muscle diseases associated with HMGCR, statin-associated myopathy (SAM) and autoimmune anti-HMGCR myopathy, are not inherited in a Mendelian pattern.
View Article and Find Full Text PDF