Rhabdomyolysis is a serious and potentially life threatening condition. Although consensus
criteria for rhabdomyolysis is lacking, a reasonable definition is elevation of serum creatine …

Background Rhabdomyolysis (RML) is an interdisciplinary condition due to muscle cell
injury followed by the release of cell components into circulation. Etiology of RML has a …

Summary LPIN1 encodes lipin-1, a phosphatidic acid phosphatase (PAP) enzyme that
catalyzes the dephosphorylation of phosphatidic acid to form diacylglycerol. Homozygous …

Rhabdomyolysis (RM) is a clinical emergency characterized by fulminant skeletal muscle
damage and release of intracellular muscle components into the blood stream leading to …

The regulation of glycerolipid biosynthesis is critical for homeostasis of cellular lipid stores
and membranes. Here we review the role of lipin phosphatidic acid phosphatase enzymes …

Members of the lipin protein family are phosphatidate phosphatase (PAP) enzymes, which
catalyze the dephosphorylation of phosphatidic acid to diacylglycerol, the penultimate step …

Background: Proteins in the lipin family play a key role in lipid synthesis due to their
phosphatidate phosphatase activity, and they also act as transcriptional coactivators to …

Statin therapy reduces cardiovascular events in patients with, or at risk of, atherosclerotic
cardiovascular disease. However, statins are underutilized in patients for whom they are …

We wish to delineate a novel, and rapidly expanding, group of inborn errors of metabolism
with neurological/muscular presentations: the defects in phospholipids, sphingolipids and …

Mitochondrial diseases are an unusually genetically and phenotypically heterogeneous
group of disorders, which are extremely challenging to treat. Currently, apart from supportive …