Results 11 to 20 of about 9,634,082 (235)

Ankyrin-B dysfunction predisposes to arrhythmogenic cardiomyopathy and is amenable to therapy. [PDF]

J Clin Invest, 2019
Arrhythmogenic cardiomyopathy (ACM) is an inherited arrhythmia syndrome characterized by severe structural and electrical cardiac phenotypes, including myocardial fibrofatty replacement and sudden cardiac death. Clinical management of ACM is largely palliative, owing to an absence of therapies that target its underlying pathophysiology, which stems ...
Roberts JD, Murphy NP, Hamilton RM, Lubbers ER, James CA, Kline CF, Gollob MH, Krahn AD, Sturm AC, Musa H, El-Refaey M, Koenig S, Aneq MÅ, Hoorntje ET, Graw SL, Davies RW, Rafiq MA, Koopmann TT, Aafaqi S, Fatah M, Chiasson DA, Taylor MR, Simmons SL, Han M, van Opbergen CJ, Wold LE, Sinagra G, Mittal K, Tichnell C, Murray B, Codima A, Nazer B, Nguyen DT, Marcus FI, Sobriera N, Lodder EM, van den Berg MP, Spears DA, Robinson JF, Ursell PC, Green AK, Skanes AC, Tang AS, Gardner MJ, Hegele RA, van Veen TA, Wilde AA, Healey JS, Janssen PM, Mestroni L, van Tintelen JP, Calkins H, Judge DP, Hund TJ, Scheinman MM, Mohler PJ.   +55 more
europepmc   +18 more sources

Ankyrin-B modulates mitochondrial fission in skeletal muscle and is required for optimal endurance exercise capacity [PDF]

Nature Communications
Mitochondrial dynamics enable cellular adaptation to fluctuations in energy demand, such as those imposed on skeletal muscle by exercise, metabolic disorders, or aging.
Kayleigh M. Voos, Joyce Tzeng, Priya Patel, Sophie Rubinsky, Ha E. Choi, Trevor Pharr, Sebastian Sookram, Joseph A. Baur, Erik J. Soderblom, Damaris N. Lorenzo   +9 more
doaj   +5 more sources

Ankyrin B promotes developmental spine regulation in the mouse prefrontal cortex. [PDF]

Cereb Cortex, 2023
Abstract Postnatal regulation of dendritic spine formation and refinement in cortical pyramidal neurons is critical for excitatory/inhibitory balance in neocortical networks. Recent studies have identified a selective spine pruning mechanism in the mouse prefrontal cortex (PFC) mediated by class 3 Semaphorins and the ...
Murphy KE, Duncan B, Sperringer JE, Zhang E, Haberman V, Wyatt EV, Maness P.   +6 more
europepmc   +4 more sources

Giant ankyrin-B mediates transduction of axon guidance and collateral branch pruning factor sema 3A [PDF]

eLife, 2021
Variants in the high confident autism spectrum disorder (ASD) gene ANK2 target both ubiquitously expressed 220 kDa ankyrin-B and neurospecific 440 kDa ankyrin-B (AnkB440) isoforms.
Blake A Creighton, Simone Afriyie, Deepa Ajit, Cristine R Casingal, Kayleigh M Voos, Joan Reger, April M Burch, Eric Dyne, Julia Bay, Jeffrey K Huang, ES Anton, Meng-Meng Fu, Damaris N Lorenzo   +12 more
doaj   +2 more sources

Structural interactions of ankyrin B with NrCAM and β2 spectrin. [PDF]

J Biol Chem
Abstract Ank2 is a high confidence autism spectrum disorder (ASD) gene encoding the spectrin-actin scaffold protein Ankyrin B (AnkB). The 220 kDal isoform of AnkB has multiple functions including developmental spine pruning through L1 family cell adhesion molecules (L1-CAMs) and class 3 Semaphorins ...
Chirasani VR, Haberman VA, Oldre EN, Webb BD, Pereira EB, Yang W, Maness PF.   +6 more
europepmc   +4 more sources

Impact of stress on cardiac phenotypes in mice harboring an ankyrin-B disease variant. [PDF]

J Biol Chem, 2023
Encoded by ANK2, ankyrin-B (AnkB) is a multifunctional adapter protein critical for the expression and targeting of key cardiac ion channels, transporters, cytoskeletal-associated proteins, and signaling molecules. Mice deficient for AnkB expression are neonatal lethal, and mice heterozygous for AnkB expression display cardiac structural and electrical
Wallace MJ, Malhotra N, Mariángelo JIE, Stevens TL, Young LJ, Antwi-Boasiako S, Abdallah D, Takenaka SS, Cavus O, Murphy NP, Han M, Xu X, Mangoni ME, Hund TJ, Roberts JD, Györke S, Mohler PJ, El Refaey M.   +17 more
europepmc   +3 more sources

Ankyrin-B coordinates the Na/K ATPase, Na/Ca exchanger, and InsP3 receptor in a cardiac T-tubule/SR microdomain.

PLoS Biology, 2005
We report identification of an ankyrin-B-based macromolecular complex of Na/K ATPase (alpha 1 and alpha 2 isoforms), Na/Ca exchanger 1, and InsP3 receptor that is localized in cardiomyocyte T-tubules in discrete microdomains distinct from classic ...
Peter J Mohler, Jonathan Q Davis, Vann Bennett   +2 more
doaj   +3 more sources

Ankyrin-B syndrome: enhanced cardiac function balanced by risk of cardiac death and premature senescence. [PDF]

PLoS ONE, 2007
Here we report the unexpected finding that specific human ANK2 variants represent a new example of balanced human variants. The prevalence of certain ANK2 (encodes ankyrin-B) variants range from 2 percent of European individuals to 8 percent in ...
Peter J Mohler, Jane A Healy, Hui Xue, Annibale A Puca, Crystal F Kline, R Rand Allingham, Evangelia G Kranias, Howard A Rockman, Vann Bennett   +8 more
doaj   +2 more sources

Ankyrin-B in lens architecture and biomechanics: Just not tethering but more. [PDF]

Bioarchitecture, 2016
The ankyrins are a family of well-characterized metazoan adaptor proteins that play a key role in linking various membrane-spanning proteins to the underlying spectrin-actin cytoskeleton; a mechanistic understanding of their role in tissue architecture and mechanics, however, remains elusive.
Rao PV, Maddala R.
europepmc   +4 more sources

A cardiac arrhythmia syndrome caused by loss of ankyrin-B function [PDF]

Proceedings of the National Academy of Sciences, 2004
220-kDa ankyrin-B is required for coordinated assembly of Na/Ca exchanger, Na/K ATPase, and inositol trisphosphate (Ins P 3 ) receptor at transverse-tubule/sarcoplasmic reticulum sites in cardiomyocytes.
MOHLER P., SPLAWSKI I., NAPOLITANO C., BOTTELLI G., SHARPE L., TIMOTHY K., KEATING M., BENNETT V., PRIORI, SILVIA GIULIANA   +8 more
openaire   +3 more sources