Family long QT syndrome type 2 associated with & lt;em & gt;KCNH2 & lt;/em & gt; gene mutation: aborted sudden cardiac death
Monaldi Arch Chest Dis. 2023 Sep 13. doi: 10.4081/monaldi.2023.2663. Online ahead of print.ABSTRACTA complete screening was performed in a family after one of its members presented with a sudden cardiac death event. A genetical analysis revealed a mutation which led to a long QT syndrome.PMID:37702700 | DOI:10.4081/monaldi.2023.2663 (Source: Monaldi Archives for Chest Disease)
Source: Monaldi Archives for Chest Disease - September 13, 2023 Category: Respiratory Medicine Authors: Iv án Alejandro Elizalde Uribe Diego Mendoza Lagos Aldo C ésar Cazares Diazleal Elias Noel Andrade Cuellar Gerardo Payr ó Ramírez Source Type: research

4-phenylbutyric acid re-trafficking hERG/G572R channel protein by modulating the endoplasmic reticulum stress-associated chaperones and endoplasmic reticulum-associated degradation gene
CONCLUSIONS: 4-PBA corrects hERG channel transport defects by inhibiting excessive ERS and the endoplasmic reticulum-associated degradation (ERAD)-related gene E3 ubiquitin ligase HRD1. Additionally, 4-PBA improved WT/G572R channel current. 4-PBA is expected to be developed as a new treatment method for LQT2.PMID:37691654 | PMC:PMC10482650 | DOI:10.21037/jtd-23-1252 (Source: Journal of Thoracic Disease)
Source: Journal of Thoracic Disease - September 11, 2023 Category: Respiratory Medicine Authors: Wen Tang Dihui Cai Yin Fu Zequn Zheng Xiaoyan Huang Rami N Khouzam Yongfei Song Jiangfang Lian Source Type: research