Islet hormones at the intersection of glucose and amino acid metabolism
The pancreatic islets of Langerhans are central to fine-tuning metabolism to ensure metabolic homeostasis during the transition between fasting and…
Category: Metabolic disorders
Allele frequency of pathogenic variants causing acid sphingomyelinase deficiency and Gaucher disease in the general Japanese population
Acid sphingomyelinase deficiency (ASMD) and Gaucher disease (GD) are lysosomal storage disorders associated with hepatosplenomegaly and thrombocyto…
NDUFB7 mutations cause brain neuronal defects, lactic acidosis, and mitochondrial dysfunction in humans and zebrafish
Complex I of the mitochondrial electron transfer chain is one of the largest membrane protein assemblies ever discovered. A patient carrying a homo…
Signaling pathway mechanisms of circadian clock gene Bmal1 regulating bone and cartilage metabolism: a review
Circadian rhythm is ubiquitous in nature. Circadian clock genes such as Bmal1 and Clock form a multi-level transcription-translation …
Matrix stiffness regulates nucleus pulposus cell glycolysis by MRTF-A-dependent mechanotransduction
Increased matrix stiffness of nucleus pulposus (NP) tissue is a main feature of intervertebral disc degeneration (IVDD) and affects various functio…