Results 31 to 40 of about 9,634,082 (235)

A Novel Mechanism for Human Cardiac Ankyrin-B Syndrome due to Reciprocal Chromosomal Translocation. [PDF]

Heart Lung Circ, 2017
Cardiac rhythm abnormalities are a leading cause of morbidity and mortality in developed countries. Loss-of-function variants in the ANK2 gene can cause a variety of cardiac rhythm abnormalities including sinus node dysfunction, atrial fibrillation and ventricular arrhythmias (called the "ankyrin-B syndrome").
Huq AJ, Pertile MD, Davis AM, Landon H, James PA, Kline CF, Vohra J, Mohler PJ, Delatycki MB.   +8 more
europepmc   +4 more sources

CaMKII inhibition rescues proarrhythmic phenotypes in the model of human ankyrin-B syndrome. [PDF]

Heart Rhythm, 2012
Cardiovascular disease is a leading cause of death worldwide. Arrhythmias are associated with significant morbidity and mortality related to cardiovascular disease. Recent work illustrates that many cardiac arrhythmias are initiated by a pathologic imbalance between kinase and phosphatase activities in excitable cardiomyocytes.To test the relationship ...
DeGrande S, Nixon D, Koval O, Curran JW, Wright P, Wang Q, Kashef F, Chiang D, Li N, Wehrens XH, Anderson ME, Hund TJ, Mohler PJ.   +12 more
europepmc   +4 more sources

Pleiotropic Ankyrins: Scaffolds for Ion Channels and Transporters

Channels, 2022
The ankyrin proteins (Ankyrin-R, Ankyrin-B, and Ankyrin-G) are a family of scaffolding, or membrane adaptor proteins necessary for the regulation and targeting of several types of ion channels and membrane transporters throughout the body.
Sharon R. Stevens, Matthew N. Rasband
doaj   +1 more source

Ankyrin-B Defects [PDF]

Circulation: Cardiovascular Genetics, 2017
One of the joys of a life in research is watching a prepared and inquisitive mind meet an unexpected finding, seemingly mundane, but opening new possibilities. So it is with the article by Swayne et al1 in this issue, who describe a novel ANK2 mutation associated with a prolonged QT interval in a population already enriched for a KCNQ1 mutation causing
Henry, Duff, Robert S, Sheldon
openaire   +2 more sources

The Ankyrin-B C-terminal Domain Determines Activity of Ankyrin-B/G Chimeras in Rescue of Abnormal Inositol 1,4,5-Trisphosphate and Ryanodine Receptor Distribution in Ankyrin-B (−/−) Neonatal Cardiomyocytes [PDF]

Journal of Biological Chemistry, 2002
Ankyrins are a closely related family of membrane adaptor proteins that are believed to participate in targeting diverse membrane proteins to specialized domains in the plasma membrane and endoplasmic reticulum. This study addresses the question of how individual ankyrin isoforms achieve functional specificity when co-expressed in the same cell ...
Peter J, Mohler, Anthony O, Gramolini, Vann, Bennett   +2 more
openaire   +2 more sources

The L1 cell adhesion molecule constrains dendritic spine density in pyramidal neurons of the mouse cerebral cortex

Frontiers in Neuroanatomy, 2023
A novel function for the L1 cell adhesion molecule, which binds the actin adaptor protein Ankyrin was identified in constraining dendritic spine density on pyramidal neurons in the mouse neocortex.
Kelsey E. Murphy, Kelsey E. Murphy, Sarah D. Wade, Sarah D. Wade, Justin E. Sperringer, Justin E. Sperringer, Vishwa Mohan, Vishwa Mohan, Bryce W. Duncan, Bryce W. Duncan, Erin Y. Zhang, Erin Y. Zhang, Yubin Pak, Yubin Pak, David Lutz, Melitta Schachner, Patricia F. Maness, Patricia F. Maness   +17 more
doaj   +1 more source

Isoforms of Spectrin and Ankyrin Reflect the Functional Topography of the Mouse Kidney. [PDF]

PLoS ONE, 2016
The kidney displays specialized regions devoted to filtration, selective reabsorption, and electrolyte and metabolite trafficking. The polarized membrane pumps, channels, and transporters responsible for these functions have been exhaustively studied ...
Michael C Stankewich, Gilbert W Moeckel, Lan Ji, Thomas Ardito, Jon S Morrow   +4 more
doaj   +1 more source

Early developmental deletion of forebrain Ank2 causes seizure-related phenotypes by reshaping the synaptic proteome

Cell Reports, 2023
Summary: Rare genetic variants in ANK2, which encodes ankyrin-B, are associated with neurodevelopmental disorders (NDDs); however, their pathogenesis is poorly understood.
Sehyoun Yoon, Marc Dos Santos, Marc P. Forrest, Christopher P. Pratt, Natalia Khalatyan, Peter J. Mohler, Jeffrey N. Savas, Peter Penzes   +7 more
doaj   +1 more source

MNF, an ankyrin repeat protein of myxoma virus, is part of a native cellular SCF complex during viral infection [PDF]

, 2010
Myxoma virus (MYXV), a member of the Poxviridae family, is the agent responsible for myxomatosis, a fatal disease in the European rabbit (Oryctolagus cuniculus).
Camus-Bouclainville, Christelle, Camus-Bouclainville Christelle, Jacqueline Gelfi, Sophie Blanié, Bertagnoli Stéphane, Blanié, Sophie, Gelfi, Jacqueline, Blanié Sophie, Christelle Camus-Bouclainville, Stéphane Bertagnoli, Bertagnoli, Stéphane, Gelfi Jacqueline   +11 more
core   +1 more source

Ankyrin-B Targets β2-Spectrin to an Intracellular Compartment in Neonatal Cardiomyocytes [PDF]

Journal of Biological Chemistry, 2004
Ankyrin-B is a spectrin-binding protein that is required for localization of inositol 1,4,5-trisphosphate receptor and ryanodine receptor in neonatal cardiomyocytes. This work addresses the interaction between ankyrin-B and beta(2)-spectrin in these cells. Ankyrin-B and beta(2)-spectrin are colocalized in an intracellular striated compartment overlying
Peter J, Mohler, Woohyun, Yoon, Vann, Bennett   +2 more
openaire   +2 more sources