Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration

Vetro, Annalisa; Pelorosso, Cristiana; Balestrini, Simona; Masi, Alessio; Hambleton, Sophie; Argilli, Emanuela; Conti, Valerio; Giubbolini, Simone; Barrick, Rebekah; Bergant, Gaber; Writzl, Karin; Emilia, K Bijlsma; Brunet, Theresa; Cacheiro, Pilar; Mei, Davide; Anita Devlin, 4; Mariëtte J, V Hoffer; Machol, Keren; Mannaioni, Guido; Sakamoto, Masamune; Manoj, P Menezes; Courtin, Thomas; Sherr, Elliott; Parra, Riccardo; Richardson, Ruth; Roscioli, Tony; Scala, Marcello; Celina von Stülpnagel,; Smedley, Damian; Collaborators, Tmem63b; Genomics England Research Consortium,; Torella, Annalaura; Tohyama, Jun; Koichihara, Reiko; Hamada, Keisuke; Ogata, Kazuhiro; Suzuki, Takashi; Sugie, Atsushi; Jasper, J van der Smagt; Koen van Gassen,; Valence, Stephanie; Vittery, Emma; Malone, Stephen; Kato, Mitsuhiro; Matsumoto, Naomichi; Gian Michele Ratto,; Guerrini, Renzo

doi:10.1016/j.ajhg.2023.06.008

By converting physical forces into electrical signals or triggering intracellular cascades, stretch-activated ion channels allow the cell to respond to osmotic and mechanical stress. Knowledge of the pathophysiological mechanisms underlying associations of stretch-activated ion channels with human disease is limited.

Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration / Annalisa Vetro , Cristiana Pelorosso , Simona Balestrini , Alessio Masi , Sophie Hambleton , Emanuela Argilli , Valerio Conti , Simone Giubbolini , Rebekah Barrick , Gaber Bergant , Karin Writzl , Emilia K Bijlsma , Theresa Brunet , Pilar Cacheiro , Davide Mei , Anita Devlin 4 , Mariëtte J V Hoffer , Keren Machol , Guido Mannaioni , Masamune Sakamoto , Manoj P Menezes , Thomas Courtin , Elliott Sherr , Riccardo Parra , Ruth Richardson , Tony Roscioli , Marcello Scala , Celina von Stülpnagel , Damian Smedley ; TMEM63B collaborators; Genomics England Research Consortium; Annalaura Torella , Jun Tohyama , Reiko Koichihara , Keisuke Hamada , Kazuhiro Ogata , Takashi Suzuki , Atsushi Sugie , Jasper J van der Smagt , Koen van Gassen , Stephanie Valence , Emma Vittery , Stephen Malone , Mitsuhiro Kato , Naomichi Matsumoto , Gian Michele Ratto , Renzo Guerrini. - In: AMERICAN JOURNAL OF HUMAN GENETICS. - ISSN 0002-9297. - ELETTRONICO. - 110:(2023), pp. 1356-1376. [10.1016/j.ajhg.2023.06.008]