The human channel gating–modifying A749G CACNA1D (Cav1.3) variant induces a neurodevelopmental syndrome–like phenotype in mice

Autor: Nadine J. Ortner, Anupam Sah, Enrica Paradiso, Josef Shin, Strahinja Stojanovic, Niklas Hammer, Maria Haritonova, Nadja T. Hofer, Andrea Marcantoni, Laura Guarina, Petronel Tuluc, Tamara Theiner, Florian Pitterl, Karl Ebner, Herbert Oberacher, Emilio Carbone, Nadia Stefanova, Francesco Ferraguti, Nicolas Singewald, Jochen Roeper, Jörg Striessnig

Publikováno v: JCI Insight, Vol 8, Iss 20 (2023)

Germline de novo missense variants of the CACNA1D gene, encoding the pore-forming α1 subunit of Cav1.3 L-type Ca2+ channels (LTCCs), have been found in patients with neurodevelopmental and endocrine dysfunction, but their disease-causing potential i

Externí odkaz: https://doaj.org/article/6c217573f67344608c7a051a8ed2797f

Kv2.1 channels play opposing roles in regulating membrane potential, Ca 2+ channel function, and myogenic tone in arterial smooth muscle

Autor: Laura Guarina, Samantha O’Dwyer, L. Fernando Santana, James S. Trimmer, Collin Matsumoto, Barbara Rosati, Nicholas R. Klug, David McKinnon, Sendoa Tajada, Stephanie Palacio

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America, vol 117, iss 7
Proceedings of the National Academy of Sciences of the United States of America

Significance Our data challenge the generally accepted view that Kv2.1 proteins regulate arterial smooth muscle function by regulating their membrane potential. Rather, we discovered that Kv2.1 plays both conductive and structural roles with opposing

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86d055ecc155ca71fbda75d38ea3d2ea
https://doi.org/10.1073/pnas.1917879117

The Organization of the Sinoatrial Node Microvasculature Varies Regionally to Match Local Myocyte Excitability

Autor: L. Fernando Santana, Laura Guarina, Nathan Grainger, Robert H. Cudmore

Publikováno v: Function (Oxford, England), vol 2, iss 4
Function (Oxford, England)

The cardiac cycle starts when an action potential is produced by pacemaking cells in the sinoatrial node. This cycle is repeated approximately 100 000 times in humans and 1 million times in mice per day, imposing a monumental metabolic demand on the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22cb9ca4611201814c3db28af775b90b
https://doi.org/10.1093/function/zqab031

Roles of Na+, Ca2+, and K+ channels in the generation of repetitive firing and rhythmic bursting in adrenal chromaffin cells

Autor: Laura Guarina, Emilio Carbone, Christopher J. Lingle, Pedro L. Martinez-Espinosa

Publikováno v: Pflügers Archiv - European Journal of Physiology. 470:39-52

Adrenal chromaffin cells (CCs) are the main source of circulating catecholamines (CAs) that regulate the body response to stress. Release of CAs is controlled neurogenically by the activity of preganglionic sympathetic neurons through trains of actio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9092121a8afef76a1458a11bd589b4e7
https://doi.org/10.1007/s00424-017-2048-1

Impaired chromaffin cell excitability and exocytosis in autistic Timothy syndrome TS2-neo mouse rescued by L-type calcium channel blockers

Autor: Emilio Carbone, Chiara Salio, Randall L. Rasmusson, Chiara Riganti, Petronel Tuluc, Glenna C.L. Bett, Marco Sassoè-Pognetto, Chiara Calorio, Gerald J. Obermair, Emilia Turco, Fiorella Balzac, Daniela Gavello, Paola Defilippi, Laura Guarina, Nadja T. Hofer, F. Bianchi

KEY POINTS: Tymothy syndrome (TS) is a multisystem disorder featuring cardiac arrhythmias, autism and adrenal gland dysfunction that originates from a de novo point mutation in the gene encoding the Cav1.2 (CACNA1C) L‐type channel. To study the rol

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b13a13c4ccb5b54701d4b9fc1748099
http://hdl.handle.net/2318/1694883