References:
Alzahrani, Z., Ornelas-Loredo, A., Darbar, S. D., Farooqui, A., Mol, D.,
Chalazan, B., . . . Darbar, D. (2018). Association Between Family
History and Early-Onset Atrial Fibrillation Across Racial and Ethnic
Groups. JAMA Netw Open, 1 (5), e182497.
doi:10.1001/jamanetworkopen.2018.2497
Amat-y-Leon, F., Racki, A. J., Denes, P., Ten Eick, R. E., Singer, D.
H., Bharati, S., . . . Rosen, K. M. (1974). Familial atrial dysrhythmia
with A-V block. Intracellular microelectrode, clinical
electrophysiologic, and morphologic observations. Circulation,
50 (6), 1097-1104. doi:10.1161/01.cir.50.6.1097
Auer, P. L., Nalls, M., Meschia, J. F., Worrall, B. B., Longstreth, W.
T., Jr., Seshadri, S., . . . Blood Institute Exome Sequencing, P.
(2015). Rare and Coding Region Genetic Variants Associated With Risk of
Ischemic Stroke: The NHLBI Exome Sequence Project. JAMA Neurol,
72 (7), 781-788. doi:10.1001/jamaneurol.2015.0582
Bar, H., Strelkov, S. V., Sjoberg, G., Aebi, U., & Herrmann, H. (2004).
The biology of desmin filaments: how do mutations affect their
structure, assembly, and organisation? J Struct Biol, 148 (2),
137-152. doi:10.1016/j.jsb.2004.04.003
Baruteau, A. E., Probst, V., & Abriel, H. (2015). Inherited progressive
cardiac conduction disorders. Curr Opin Cardiol, 30 (1), 33-39.
doi:10.1097/HCO.0000000000000134
Beca, S., Helli, P. B., Simpson, J. A., Zhao, D., Farman, G. P., Jones,
P., . . . Backx, P. H. (2011). Phosphodiesterase 4D regulates baseline
sarcoplasmic reticulum Ca2+ release and cardiac contractility,
independently of L-type Ca2+ current. Circ Res, 109 (9),
1024-1030. doi:10.1161/CIRCRESAHA.111.250464
Bergman, J. E., Veenstra-Knol, H. E., van Essen, A. J., van Ravenswaaij,
C. M., den Dunnen, W. F., van den Wijngaard, A., & van Tintelen, J. P.
(2007). Two related Dutch families with a clinically variable
presentation of cardioskeletal myopathy caused by a novel S13F mutation
in the desmin gene. Eur J Med Genet, 50 (5), 355-366.
doi:10.1016/j.ejmg.2007.06.003
Bouguenina, H., Salaun, D., Mangon, A., Muller, L., Baudelet, E.,
Camoin, L., . . . Badache, A. (2017). EB1-binding-myomegalin protein
complex promotes centrosomal microtubules functions. Proc Natl
Acad Sci U S A, 114 (50), E10687-E10696. doi:10.1073/pnas.1705682114
Bouvet, M., Dubois-Deruy, E., Alayi, T. D., Mulder, P., El Amranii, M.,
Beseme, O., . . . Pinet, F. (2016). Increased level of phosphorylated
desmin and its degradation products in heart failure. Biochem
Biophys Rep, 6 , 54-62. doi:10.1016/j.bbrep.2016.02.014
Costedoat-Chalumeau, N., Georgin-Lavialle, S., Amoura, Z., & Piette, J.
C. (2005). Anti-SSA/Ro and anti-SSB/La antibody-mediated congenital
heart block. Lupus, 14 (9), 660-664.
doi:10.1191/0961203305lu2195oa
Dodge, K. L., Khouangsathiene, S., Kapiloff, M. S., Mouton, R., Hill, E.
V., Houslay, M. D., . . . Scott, J. D. (2001). mAKAP assembles a protein
kinase A/PDE4 phosphodiesterase cAMP signaling module. EMBO J,
20 (8), 1921-1930. doi:10.1093/emboj/20.8.1921
Fink, M. A., Zakhary, D. R., Mackey, J. A., Desnoyer, R. W.,
Apperson-Hansen, C., Damron, D. S., & Bond, M. (2001). AKAP-mediated
targeting of protein kinase a regulates contractility in cardiac
myocytes. Circ Res, 88 (3), 291-297. doi:10.1161/01.res.88.3.291
Frustaci, A., Lanfranchi, G., Bellin, M., & Chimenti, C. (2012).
Coronary telangiectasia associated with hypertrophic cardiomyopathy.Eur J Heart Fail, 14 (12), 1332-1337. doi:10.1093/eurjhf/hfs125
Gard, D. L., & Lazarides, E. (1982). Analysis of desmin and vimentin
phosphopeptides in cultured avian myogenic cells and their modulation by
8-bromo-adenosine 3’,5’-cyclic monophosphate. Proc Natl Acad Sci U
S A, 79 (22), 6912-6916. doi:10.1073/pnas.79.22.6912
Go, A. S., Mozaffarian, D., Roger, V. L., Benjamin, E. J., Berry, J. D.,
Borden, W. B., . . . Stroke Statistics, S. (2013). Heart disease and
stroke statistics–2013 update: a report from the American Heart
Association. Circulation, 127 (1), e6-e245.
doi:10.1161/CIR.0b013e31828124ad
Houslay, M. D., & Baillie, G. S. (2005). Beta-arrestin-recruited
phosphodiesterase-4 desensitizes the AKAP79/PKA-mediated switching of
beta2-adrenoceptor signalling to activation of ERK. Biochem Soc
Trans, 33 (Pt 6), 1333-1336. doi:10.1042/BST20051333
Inagaki, M., Gonda, Y., Matsuyama, M., Nishizawa, K., Nishi, Y., &
Sato, C. (1988). Intermediate filament reconstitution in vitro. The role
of phosphorylation on the assembly-disassembly of desmin. J Biol
Chem, 263 (12), 5970-5978. Retrieved from
https://www.ncbi.nlm.nih.gov/pubmed/2833525
Jorgensen, C., Yasmeen, S., Iversen, H. K., & Kruuse, C. (2015).
Phosphodiesterase4D (PDE4D)–A risk factor for atrial fibrillation and
stroke? J Neurol Sci, 359 (1-2), 266-274.
doi:10.1016/j.jns.2015.11.010
Keramati, A. R., Fathzadeh, M., Go, G. W., Singh, R., Choi, M.,
Faramarzi, S., . . . Mani, A. (2014). A form of the metabolic syndrome
associated with mutations in DYRK1B. N Engl J Med, 370 (20),
1909-1919. doi:10.1056/NEJMoa1301824
Kitamura, S., Ando, S., Shibata, M., Tanabe, K., Sato, C., & Inagaki,
M. (1989). Protein kinase C phosphorylation of desmin at four serine
residues within the non-alpha-helical head domain. J Biol Chem,
264 (10), 5674-5678. Retrieved from
https://www.ncbi.nlm.nih.gov/pubmed/2494168
Klarenbeek, J., Goedhart, J., van Batenburg, A., Groenewald, D., &
Jalink, K. (2015). Fourth-generation epac-based FRET sensors for cAMP
feature exceptional brightness, photostability and dynamic range:
characterization of dedicated sensors for FLIM, for ratiometry and with
high affinity. PLoS One, 10 (4), e0122513.
doi:10.1371/journal.pone.0122513
Kugler, S., Nagy, N., Racz, G., Tokes, A. M., Dorogi, B., & Nemeskeri,
A. (2018). Presence of cardiomyocytes exhibiting Purkinje-type
morphology and prominent connexin45 immunoreactivity in the myocardial
sleeves of cardiac veins. Heart Rhythm, 15 (2), 258-264.
doi:10.1016/j.hrthm.2017.09.044
Kumar, A., Ouyang, M., Van den Dries, K., McGhee, E. J., Tanaka, K.,
Anderson, M. D., . . . Schwartz, M. A. (2016). Talin tension sensor
reveals novel features of focal adhesion force transmission and
mechanosensitivity. J Cell Biol, 213 (3), 371-383.
doi:10.1083/jcb.201510012
Kumar, R. K., Saxena, A., & Talwar, K. K. (1991). Lone atrial
fibrillation with complete heart block in a child. Int J Cardiol,
30 (3), 349-351. doi:10.1016/0167-5273(91)90014-g
Lehnart, S. E., Wehrens, X. H., Reiken, S., Warrier, S., Belevych, A.
E., Harvey, R. D., . . . Marks, A. R. (2005). Phosphodiesterase 4D
deficiency in the ryanodine-receptor complex promotes heart failure and
arrhythmias. Cell, 123 (1), 25-35. doi:10.1016/j.cell.2005.07.030
Mado, K., Chekulayev, V., Shevchuk, I., Puurand, M., Tepp, K., &
Kaambre, T. (2019). On the role of tubulin, plectin, desmin, and
vimentin in the regulation of mitochondrial energy fluxes in muscle
cells. Am J Physiol Cell Physiol, 316 (5), C657-C667.
doi:10.1152/ajpcell.00303.2018
Michaelsson, M., Riesenfeld, T., & Jonzon, A. (1997). Natural history
of congenital complete atrioventricular block. Pacing Clin
Electrophysiol, 20 (8 Pt 2), 2098-2101.
doi:10.1111/j.1540-8159.1997.tb03636.x
Mika, D., Richter, W., & Conti, M. (2015). A CaMKII/PDE4D negative
feedback regulates cAMP signaling. Proc Natl Acad Sci U S A,
112 (7), 2023-2028. doi:10.1073/pnas.1419992112
Mika, D., Richter, W., Westenbroek, R. E., Catterall, W. A., & Conti,
M. (2014). PDE4B mediates local feedback regulation of
beta(1)-adrenergic cAMP signaling in a sarcolemmal compartment of
cardiac myocytes. J Cell Sci, 127 (Pt 5), 1033-1042.
doi:10.1242/jcs.140251
Moak, J. P., Barron, K. S., Hougen, T. J., Wiles, H. B., Balaji, S.,
Sreeram, N., . . . Buyon, J. P. (2001). Congenital heart block:
development of late-onset cardiomyopathy, a previously underappreciated
sequela. J Am Coll Cardiol, 37 (1), 238-242.
doi:10.1016/s0735-1097(00)01048-2
Mongillo, M., McSorley, T., Evellin, S., Sood, A., Lissandron, V.,
Terrin, A., . . . Zaccolo, M. (2004). Fluorescence resonance energy
transfer-based analysis of cAMP dynamics in live neonatal rat cardiac
myocytes reveals distinct functions of compartmentalized
phosphodiesterases. Circ Res, 95 (1), 67-75.
doi:10.1161/01.RES.0000134629.84732.11
Nobles, K. N., Xiao, K., Ahn, S., Shukla, A. K., Lam, C. M., Rajagopal,
S., . . . Lefkowitz, R. J. (2011). Distinct phosphorylation sites on the
beta(2)-adrenergic receptor establish a barcode that encodes
differential functions of beta-arrestin. Sci Signal, 4 (185),
ra51. doi:10.1126/scisignal.2001707
O’Connor, C. M., Gard, D. L., & Lazarides, E. (1981). Phosphorylation
of intermediate filament proteins by cAMP-dependent protein kinases.Cell, 23 (1), 135-143. doi:10.1016/0092-8674(81)90278-6
Perry, S. J., Baillie, G. S., Kohout, T. A., McPhee, I., Magiera, M. M.,
Ang, K. L., . . . Lefkowitz, R. J. (2002). Targeting of cyclic AMP
degradation to beta 2-adrenergic receptors by beta-arrestins.Science, 298 (5594), 834-836. doi:10.1126/science.1074683
Pica, E. C., Kathirvel, P., Pramono, Z. A., Lai, P. S., & Yee, W. C.
(2008). Characterization of a novel S13F desmin mutation associated with
desmin myopathy and heart block in a Chinese family. Neuromuscul
Disord, 18 (2), 178-182. doi:10.1016/j.nmd.2007.09.011
Rainer, P. P., Dong, P., Sorge, M., Fert-Bober, J., Holewinski, R. J.,
Wang, Y., . . . Agnetti, G. (2018). Desmin Phosphorylation Triggers
Preamyloid Oligomers Formation and Myocyte Dysfunction in Acquired Heart
Failure. Circ Res, 122 (10), e75-e83.
doi:10.1161/CIRCRESAHA.117.312082
Sampson, K. J., Terrenoire, C., Cervantes, D. O., Kaba, R. A., Peters,
N. S., & Kass, R. S. (2008). Adrenergic regulation of a key cardiac
potassium channel can contribute to atrial fibrillation: evidence from
an I Ks transgenic mouse. J Physiol, 586 (2), 627-637.
doi:10.1113/jphysiol.2007.141333
Shenoy, S. K., & Lefkowitz, R. J. (2005). Seven-transmembrane receptor
signaling through beta-arrestin. Sci STKE, 2005 (308), cm10.
doi:10.1126/stke.2005/308/cm10
Soejima, H., Kawamoto, S., Akai, J., Miyoshi, O., Arai, Y., Morohka, T.,
. . . Mukai, T. (2001). Isolation of novel heart-specific genes using
the BodyMap database. Genomics, 74 (1), 115-120.
doi:10.1006/geno.2001.6527
Tao, J. X., & Ip, W. (1991). Site-specific antibodies block kinase A
phosphorylation of desmin in vitro and inhibit incorporation of
myoblasts into myotubes. Cell Motil Cytoskeleton, 19 (2), 109-120.
doi:10.1002/cm.970190206
Terrenoire, C., Houslay, M. D., Baillie, G. S., & Kass, R. S. (2009).
The cardiac IKs potassium channel macromolecular complex includes the
phosphodiesterase PDE4D3. J Biol Chem, 284 (14), 9140-9146.
doi:10.1074/jbc.M805366200
Udink ten Cate, F. E., Breur, J. M., Cohen, M. I., Boramanand, N.,
Kapusta, L., Crosson, J. E., . . . Meijboom, E. J. (2001). Dilated
cardiomyopathy in isolated congenital complete atrioventricular block:
early and long-term risk in children. J Am Coll Cardiol, 37 (4),
1129-1134. doi:10.1016/s0735-1097(00)01209-2
Uys, G. M., Ramburan, A., Loos, B., Kinnear, C. J., Korkie, L. J.,
Mouton, J., . . . Moolman-Smook, J. C. (2011). Myomegalin is a novel
A-kinase anchoring protein involved in the phosphorylation of cardiac
myosin binding protein C. BMC Cell Biol, 12 , 18.
doi:10.1186/1471-2121-12-18
van Spaendonck-Zwarts, K. Y., van Hessem, L., Jongbloed, J. D., de
Walle, H. E., Capetanaki, Y., van der Kooi, A. J., . . . van Tintelen,
J. P. (2011). Desmin-related myopathy. Clin Genet, 80 (4),
354-366. doi:10.1111/j.1399-0004.2010.01512.x
van Tintelen, J. P., Van Gelder, I. C., Asimaki, A., Suurmeijer, A. J.,
Wiesfeld, A. C., Jongbloed, J. D., . . . van den Berg, M. P. (2009).
Severe cardiac phenotype with right ventricular predominance in a large
cohort of patients with a single missense mutation in the DES gene.Heart Rhythm, 6 (11), 1574-1583. doi:10.1016/j.hrthm.2009.07.041
Wang, Z., Zhang, C., & Qi, R. Z. (2014). A newly identified myomegalin
isoform functions in Golgi microtubule organization and ER-Golgi
transport. J Cell Sci, 127 (Pt 22), 4904-4917.
doi:10.1242/jcs.155408
Willoughby, D., Baillie, G. S., Lynch, M. J., Ciruela, A., Houslay, M.
D., & Cooper, D. M. (2007). Dynamic regulation, desensitization, and
cross-talk in discrete subcellular microdomains during
beta2-adrenoceptor and prostanoid receptor cAMP signaling. J Biol
Chem, 282 (47), 34235-34249. doi:10.1074/jbc.M706765200
Wu, J., de Heus, C., Liu, Q., Bouchet, B. P., Noordstra, I., Jiang, K.,
. . . Akhmanova, A. (2016). Molecular Pathway of Microtubule
Organization at the Golgi Apparatus. Dev Cell, 39 (1), 44-60.
doi:10.1016/j.devcel.2016.08.009
Xiang, Y., Naro, F., Zoudilova, M., Jin, S. L., Conti, M., & Kobilka,
B. (2005). Phosphodiesterase 4D is required for beta2 adrenoceptor
subtype-specific signaling in cardiac myocytes. Proc Natl Acad Sci
U S A, 102 (3), 909-914. doi:10.1073/pnas.0405263102
Xin, W., Tran, T. M., Richter, W., Clark, R. B., & Rich, T. C. (2008).
Roles of GRK and PDE4 activities in the regulation of beta2 adrenergic
signaling. J Gen Physiol, 131 (4), 349-364.
doi:10.1085/jgp.200709881
Yamashita, T., Murakawa, Y., Ajiki, K., & Omata, M. (1997). Incidence
of induced atrial fibrillation/flutter in complete atrioventricular
block. A concept of ’atrial-malfunctioning’ atrio-hisian block.Circulation, 95 (3), 650-654. doi:10.1161/01.cir.95.3.650
Zaccolo, M., & Pozzan, T. (2002). Discrete microdomains with high
concentration of cAMP in stimulated rat neonatal cardiac myocytes.Science, 295 (5560), 1711-1715. doi:10.1126/science.1069982
Zamah, A. M., Delahunty, M., Luttrell, L. M., & Lefkowitz, R. J.
(2002). Protein kinase A-mediated phosphorylation of the beta
2-adrenergic receptor regulates its coupling to Gs and Gi. Demonstration
in a reconstituted system. J Biol Chem, 277 (34), 31249-31256.
doi:10.1074/jbc.M202753200