As a transcription factor, GLI1 plays an important role in cell cycle regulation, DNA replication, and DNA damage responses. The aberrant activation of GLI1 has been associated with cancers such as glioma, osteosarcoma, and rhabdomyosarcoma. The binding of GLI1 to a specific DNA sequence was achieved by five tandem zinc finger motifs (Zif motifs) on the N-terminal part of the molecule.
View Article and Find Full Text PDFMitochondrial carrier homolog 2 (MTCH2) is a regulator of apoptosis, mitochondrial dynamics, and metabolism. Loss of MTCH2 results in mitochondrial fragmentation, an increase in whole-body energy utilization, and protection against diet-induced obesity. In this study, we used temporal metabolomics on HeLa cells to show that MTCH2 deletion results in a high ATP demand, an oxidized cellular environment, and elevated utilization of lipids, amino acids, and carbohydrates, accompanied by a decrease in several metabolites.
View Article and Find Full Text PDFPurpose: To compare stone clearance and complications between a 'wide' (9 × 50 mm) and 'narrow' shockwave focus (6 × 28 mm) when undertaking shockwave lithotripsy (SWL) in patients with renal or ureteric stones.
Methods: Data from patients undergoing SWL using the dual focus Storz Modulith SLX-F2 lithotripter at a single centre were prospectively collected between February 2018 and September 2020. Patients were matched by stone size, location, and number of treatments.
Background: A CAG repeat expansion in THAP11 was recently found to be associated with spinocerebellar ataxia in two Chinese families. Expanded repeats ranged from 45 to 100 units, with CAA sequence interruptions in the 5' region and an uninterrupted CAG tract in the 3' tail.
Objective: Here, we assess the population distribution of the THAP11 repeat, and its contribution to neurological diseases.