Redox Biology, Volume 45, September 2021
Niemann-Pick type C (NPC) disease, a lysosomal storage disorder caused by defective NPC1/NPC2 function, results in the accumulation of cholesterol and glycosphingolipids in lysosomes of affected organs, such as liver and brain. Moreover, increase of mitochondrial cholesterol (mchol) content and impaired mitochondrial function and GSH depletion contribute to NPC disease. However, the underlying mechanism of mchol accumulation in NPC disease remains unknown. As STARD1 is crucial in intramitochondrial cholesterol trafficking and acid ceramidase (ACDase) has been shown to regulate STARD1, we explored the functional relationship between ACDase and STARD1 in NPC disease.
Free Radical Biology and Medicine, Volume 173, September 2021
There is an urgent need to endorse a protective therapy for ALS patients. Possible treatments might be based on the underlying molecular pathophysiology. Some of the ALS dysregulated routes could be targeted by a single hit in NRF2. NRF2 emerged as a druggable target in preclinical and clinical trials for ALS.
Elsevier,
Mitochondrion, Volume 60, September 2021
Mitochondrial myopathy (MM) encompasses a clinical heterogenous group of patients that can be difficult to diagnose. This article investigates whether changes in plasma lactate concentration during a 6-minute submaximal handgrip test (6MHGT) and a 20-minute post-exercise recovery period can be used as a diagnostic test for MM.
Journal of Trace Elements in Medicine and Biology, Volume 67, September 2021
Hypotheses for the pathogenesis of Alzheimer’s disease (AD) are described in this paper. The review is intended to be a basic and encyclopedic short insight into metals in AD and discusses the advances in chelation strategies and developments adopted in the treatment of the disease.
