Mechanistic Analysis of Channel Dysfunction Caused by Diverse Pathogenic Polycystin Pore Helix Variants

Medicine, Basic Medical Sciences, Nephrology, Life Sciences, Cell Biology, Biochemistry, Genetics, Biophysics,
autosomal dominant polycystic kidney disease   polycystin   channelopathy   ion channel   primary cilia   structure   drug development  

I. Research Background and Scientific Significance Autosomal Dominant Polycystic Kidney Disease (ADPKD) is a common monogenic hereditary kidney disease that affects millions of people worldwide. ADPKD is primarily caused by mutations in the renal polycystin family (especially the PKD1 and PKD2 genes), which encode channel subunits pivotal for ion c...

The NOMPC ion channel hinge forms a gating spring that initiates mechanosensation

Medicine, Neurology, Life Sciences, Cell Biology, Biophysics,
mechanosensation   ion channel   gating spring   molecular dynamics   NOMPC  

NOMPC Ion Channel Hinge Forms Gating Spring to Initiate Mechanosensation Academic Background Mechanosensation is the process by which organisms perceive external mechanical stimuli and convert them into electrical signals. This process plays a crucial role in touch, hearing, gravity perception, and the movement of internal organs and limbs. The ini...

Expanded Clinical Phenotype Spectrum Correlates with Variant Function in SCN2A-Related Disorders

Medicine, Basic Medical Sciences, Medical Laboratory Science, Neurology, Life Sciences, Cell Biology, Genetics,
SCN2A   epilepsy   autism   developmental epileptic encephalopathy   ion channel   genetic variant  

Dysfunctional spectrum associated with clinical phenotype expansion in SCN2A-related disorders This paper was written by scholars including Anne T. Berg, Christopher H. Thompson, Leah Schust Myers, Erica Anderson, Lindsey Evans, Ariela J. E. Kaiser, Katherine Paltell, Amanda N. Nili, Jean-Marc L. Dekeyser, Tatiana V. Abramova, Gerry Nesbitt, Shawn ...