Genomes and Genes
Gene Symbol: CACNA1D
Description: calcium voltage-gated channel subunit alpha1 D
Alias: CACH3, CACN4, CACNL1A2, CCHL1A2, Cav1.3, PASNA, SANDD, voltage-dependent L-type calcium channel subunit alpha-1D, calcium channel, L type, alpha-1 polypeptide, calcium channel, neuroendocrine/brain-type, alpha 1 subunit, calcium channel, voltage-dependent, L type, alpha 1D subunit, voltage-gated calcium channel alpha 1 subunit, voltage-gated calcium channel alpha subunit Cav1.3
Publications118 found, 100 shown here
- Azizan E, Poulsen H, Tuluc P, Zhou J, Clausen M, Lieb A, et al. Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension. Nat Genet. 2013;45:1055-60 pubmed publisher..and identified nine with somatic mutations in either ATP1A1, encoding the Na(+)/K(+) ATPase Î±1 subunit, or CACNA1D, encoding Cav1.3...
- Bock G, Gebhart M, Scharinger A, Jangsangthong W, Busquet P, Poggiani C, et al. Functional properties of a newly identified C-terminal splice variant of Cav1.3 L-type Ca2+ channels. J Biol Chem. 2011;286:42736-48 pubmed publisher..This may be especially important in neurons that are affected by Ca(2+)-induced neurodegenerative processes. ..
- Amare A, Schubert K, Klingler Hoffmann M, Cohen Woods S, Baune B. The genetic overlap between mood disorders and cardiometabolic diseases: a systematic review of genome wide and candidate gene studies. Transl Psychiatry. 2017;7:e1007 pubmed publisher..These genes include MTHFR, CACNA1D, CACNB2, GNAS, ADRB1, NCAN, REST, FTO, POMC, BDNF, CREB, ITIH4, LEP, GSK3B, SLC18A1, TLR4, PPP1R1B, APOE, CRY2, ..
- Felizola S, Katsu K, Ise K, Nakamura Y, Arai Y, Satoh F, et al. Pre-B Lymphocyte Protein 3 (VPREB3) Expression in the Adrenal Cortex: Precedent for non-Immunological Roles in Normal and Neoplastic Human Tissues. Endocr Pathol. 2015;26:119-28 pubmed publisher..023; Râ€‰=â€‰0.31) and CaV3.2 (Pâ€‰=â€‰0.0019; Râ€‰=â€‰0.42). Based on our data, we hypothesize a possible role for VPREB3 in aldosterone biosynthesis, and present ideas for future functional studies. ..
- Genewsky A, Jost I, Busch C, Huber C, Stindl J, Skerka C, et al. Activation of endogenously expressed ion channels by active complement in the retinal pigment epithelium. Pflugers Arch. 2015;467:2179-91 pubmed publisher..In summary, in a concerted manner, C3a, C5a and sC5b-9 increased [Ca(2+)]i by ryanodine-receptor-dependent activation of L-type channels in addition to maxi-K channels and TRP channels absent from any insertion of a lytic pore. ..
- Nishimoto K, Tomlins S, Kuick R, Cani A, Giordano T, Hovelson D, et al. Aldosterone-stimulating somatic gene mutations are common in normal adrenal glands. Proc Natl Acad Sci U S A. 2015;112:E4591-9 pubmed publisher..in 8 of 23 (35%) APCCs, including mutations in calcium channel, voltage-dependent, L-type, Î±1D-subunit (CACNA1D; 6 of 23 APCCs) and ATPase, Na(+)/(K+) transporting, Î±1-polypeptide (ATP1A1; 2 of 23 APCCs), which were not ..
- Liu Z, Li W, Ma X, Ding N, Spallotta F, Southon E, et al. Essential role of the zinc finger transcription factor Casz1 for mammalian cardiac morphogenesis and development. J Biol Chem. 2014;289:29801-16 pubmed publisher..and CKM; contractile fiber gene ACTA1; and cardiac arrhythmia associated ion channel coding genes ABCC9 and CACNA1D. The transcriptional regulation of some of these genes by Casz1 was also found in cellular models...
- Srivastava U, Aromolaran A, Fabris F, Lazaro D, Kassotis J, Qu Y, et al. Novel function of ?1D L-type calcium channel in the atria. Biochem Biophys Res Commun. 2017;482:771-776 pubmed publisher..Using RT-PCR, we observed a 2.9 fold decrease in expression of Cacna1d (gene encoding ?1D) mRNA in atria from ?1D+/-mice...
- Korah H, Scholl U. An Update on Familial Hyperaldosteronism. Horm Metab Res. 2015;47:941-6 pubmed publisher..Germline mutations in CACNA1D, which codes for an L-type calcium channel, have so far only been found in 2 cases with a syndrome of primary ..
- LichvÃ¡rovÃ¡ L, LacinovÃ¡ Ä. Ca(V)1.2 and Ca(V)1.3 L-type calcium channels regulate the resting membrane potential but not the expression of calcium transporters in differentiated PC12 cells. Gen Physiol Biophys. 2015;34:157-65 pubmed publisher..LTCC subtypes was downregulated by transfection of NGF-differentiated PC12 cells with siRNA for either CACNA1C or CACNA1D gene. Efficiency of gene silencing was verified by RT-PCR and by functional essay...
- Nikolaidou T, Cai X, Stephenson R, Yanni J, Lowe T, Atkinson A, et al. Congestive Heart Failure Leads to Prolongation of the PR Interval and Atrioventricular Junction Enlargement and Ion Channel Remodelling in the Rabbit. PLoS ONE. 2015;10:e0141452 pubmed publisher..Heart failure in the rabbit leads to prolongation of the PR interval and this is accompanied by downregulation of HCN1, Cav1.3, Cx40 and Cx43 mRNAs and anatomical enlargement of the entire heart and AVJ. ..
- Zhang Q, Bai Y, Yang Z, Tian J, Meng Z. The molecular mechanism of the effect of sulfur dioxide inhalation on the potassium and calcium ion channels in rat aortas. Hum Exp Toxicol. 2016;35:418-27 pubmed publisher..The molecular mechanism of SO2-induced vasorelaxant effect might be linked to the changes in expression of these channel subunits, which plays an important role in the pathogenesis of SO2-associated cardiovascular diseases. ..
- Biasiotta A, D Arcangelo D, Passarelli F, Nicodemi E, Facchiano A. Ion channels expression and function are strongly modified in solid tumors and vascular malformations. J Transl Med. 2016;14:285 pubmed..Several ion-channels showed significantly increased expression in tumors (p < 0.0005); nine genes (namely, CACNA1D, FXYD3, FXYD5, HTR3A, KCNE3, KCNE4, KCNN4, CLIC1, TRPM3) showed such significant modification in at least half of ..
- Branch S, Chen C, Sharma R, Lechleiter J, Li S, Beckstead M. Dopaminergic Neurons Exhibit an Age-Dependent Decline in Electrophysiological Parameters in the MitoPark Mouse Model of Parkinson's Disease. J Neurosci. 2016;36:4026-37 pubmed publisher..Because PD is a progressive disease with a long asymptomatic phase, identification of early functional adaptations could lay the groundwork to test therapeutic interventions that halt or reverse disease progression. ..
- Tang J, He A, Li N, Chen X, Zhou X, Fan X, et al. Magnesium Sulfate-Mediated Vascular Relaxation and Calcium Channel Activity in Placental Vessels Different From Nonplacental Vessels. J Am Heart Assoc. 2018;7: pubmed publisher..Relative mRNA expression of CACNA1D, CACNB2, and CACNB3 was significantly higher in PV than those in umbilical vessels, despite the ..
- Ben Yakir Blumkin M, Loboda Y, SchÃ¤chter L, Finberg J. Neuroprotective effect of weak static magnetic fields in primary neuronal cultures. Neuroscience. 2014;278:313-26 pubmed publisher..These findings show the potential susceptibility of the CNS to weak SMF exposure and have implications for the design of novel strategies for the treatment and/or prevention of neurodegenerative diseases. ..
- Mesirca P, Torrente A, Mangoni M. T-type channels in the sino-atrial and atrioventricular pacemaker mechanism. Pflugers Arch. 2014;466:791-9 pubmed publisher..Accordingly, loss-of-function of Cav3.1 channels contributes to severe form of congenital bradycardia and atrioventricular block in paediatric patients. ..
- Chang K, Huang N, Liu I, Wang Y, Wu P, Tseng Y, et al. Emergence of differentially regulated pathways associated with the development of regional specificity in chicken skin. BMC Genomics. 2015;16:22 pubmed publisher..Some voltage-gated calcium channel subunits, particularly CACNA1D, are expressed spatio-temporally in the skin epithelium...
- Kim D, Kang M, Kim S, Lee J, Park Y, Chang I, et al. Molecular Basis of the Membrane Interaction of the Î²2e Subunit of Voltage-Gated Ca(2+) Channels. Biophys J. 2015;109:922-35 pubmed publisher..The PS-Î²2e interaction observed here provides a molecular insight into general principles for protein binding to the plasma membrane, as well as the regulatory roles of phospholipids in transporters and ion channels. ..
- Danecek P, NellÃ¥ker C, McIntyre R, Buendia Buendia J, Bumpstead S, Ponting C, et al. High levels of RNA-editing site conservation amongst 15 laboratory mouse strains. Genome Biol. 2012;13:26 pubmed publisher..We validated 24 novel RNA editing sites in coding sequence, including two non-synonymous edits in the Cacna1d gene that fell into the IQ domain portion of the Cav1...
- Reimer E, Walenda G, Seidel E, Scholl U. CACNA1H(M1549V) Mutant Calcium Channel Causes Autonomous Aldosterone Production in HAC15 Cells and Is Inhibited by Mibefradil. Endocrinology. 2016;157:3016-22 pubmed publisher..Such blockers could target CACNA1H or both CACNA1H and the L-type calcium channel CACNA1D that is also expressed in the adrenal gland and mutated in patients with primary aldosteronism.
- Ebbers L, Runge K, Nothwang H. Differential patterns of histone methylase EHMT2 and its catalyzed histone modifications H3K9me1 and H3K9me2 during maturation of central auditory system. Cell Tissue Res. 2016;365:247-64 pubmed publisher..Analyses of two deaf mouse models, namely Cldn14 (-/-) and Cacna1d (-/-), demonstrated that sound-driven or spontaneous activity had no influence on EHMT2 immunoreactivity...
- Zennaro M, Jeunemaitre X. SFE/SFHTA/AFCE consensus on primary aldosteronism, part 5: Genetic diagnosis of primary aldosteronism. Ann Endocrinol (Paris). 2016;77:214-9 pubmed publisher..In rare cases, PA may be associated with complex neurologic disorder involving epileptic seizures and cerebral palsy (Primary Aldosteronism, Seizures, and Neurologic Abnormalities [PASNA]) due to de novo germline CACNA1D mutations.
- Geybels M, Alumkal J, Luedeke M, Rinckleb A, Zhao S, Shui I, et al. Epigenomic profiling of prostate cancer identifies differentially methylated genes in TMPRSS2:ERG fusion-positive versus fusion-negative tumors. Clin Epigenetics. 2015;7:128 pubmed publisher..53E-29) were identified: C3orf14, CACNA1D, GREM1, KLK10, NT5C, PDE4D, RAB40C, SEPT9, and TRIB2, several of which had a corresponding alteration in mRNA ..
- Ren L, Gao X, Yang C, Tan H, Cui J, Wang S, et al. Comparison of diploid and triploid Carassius auratus provides insights into adaptation to environmental change. Sci China Life Sci. 2018;61:1407-1419 pubmed publisher..758 were down-regulated in triploids; of these differentially expressed transcripts, 33 transcripts including cacna1d, nfkb2, hspa1 and fgfr4 were involved in the MAPK signaling pathway, and eight transcripts were determined to be ..
- Monticone S, Buffolo F, Tetti M, Veglio F, Pasini B, Mulatero P. GENETICS IN ENDOCRINOLOGY: The expanding genetic horizon of primary aldosteronism. Eur J Endocrinol. 2018;178:R101-R111 pubmed publisher..Somatic mutations in four genes (KCNJ5, ATP1A1, ATP2B3 and CACNA1D), differently implicated in intracellular ion homeostasis, have been identified in nearly 60% of the sporadic ..
- Reyes Fernandez P, Fleet J. Luminal glucose does not enhance active intestinal calcium absorption in mice: evidence against a role for Ca(v)1.3 as a mediator of calcium uptake during absorption. Nutr Res. 2015;35:1009-15 pubmed publisher..Collectively, our results show that glucose did not enhance Ca absorption and they do not support a critical role for Cav1.3 in either basal or vitamin D-regulated intestinal Ca absorption in vivo. ..
- Berger S, Bartsch D. The role of L-type voltage-gated calcium channels Cav1.2 and Cav1.3 in normal and pathological brain function. Cell Tissue Res. 2014;357:463-76 pubmed publisher..Individually, CACNA1C polymorphisms and CACNA1D variants have been linked to a variety of psychiatric diseases and to congenital deafness, respectively...
- Faillot S, Assie G. ENDOCRINE TUMOURS: The genomics of adrenocortical tumors. Eur J Endocrinol. 2016;174:R249-65 pubmed publisher..Exome sequencing identified new major drivers in all tumor types, including KCNJ5, ATP1A1, ATP2B3 and CACNA1D mutations in aldosterone-producing adenomas (APA), PRKACA mutations in cortisol-producing adenomas (CPA), ARMC5 ..
- Pinggera A, Striessnig J. Cav 1.3 (CACNA1D) L-type Ca2+ channel dysfunction in CNS disorders. J Physiol. 2016;594:5839-5849 pubmed publisherCav 1.3 belongs to the family of voltage-gated L-type Ca2+ channels and is encoded by the CACNA1D gene. Cav 1...
- Xie C, Shaikh L, Garg S, Tanriver G, Teo A, Zhou J, et al. Regulation of aldosterone secretion by Cav1.3. Sci Rep. 2016;6:24697 pubmed publisher..Selective CaV1.3 blockade may offer a novel way of treating primary hyperaldosteronism, which avoids the vascular side effects of CaV1.2-blockade, and provides targeted treatment for ZG-like APAs with mutations of CaV1.3. ..
- Davare M, Avdonin V, Hall D, Peden E, Burette A, Weinberg R, et al. A beta2 adrenergic receptor signaling complex assembled with the Ca2+ channel Cav1.2. Science. 2001;293:98-101 pubmed..The assembly of this signaling complex provides a mechanism that ensures specific and rapid signaling by a G protein-coupled receptor. ..
- Meza U, Beqollari D, Romberg C, Papadopoulos S, Bannister R. Potent inhibition of L-type Ca2+ currents by a Rad variant associated with congestive heart failure. Biochem Biophys Res Commun. 2013;439:270-4 pubmed publisher..However, our results do not rule out the possibility that decreased expression, mistargeting or altered regulation of Rad Q66P may reduce the RGK protein's efficacy in vivo. ..
- Radwani H, López González M, Cattaert D, Roca Lapirot O, Dobremez E, Bouali Benazzouz R, et al. Cav1.2 and Cav1.3 L-type calcium channels independently control short- and long-term sensitization to pain. J Physiol. 2016;594:6607-6626 pubmed publisher..Wind-up and long-term hyperexcitability of DHNs are differentially controlled by Cav1.2 and Cav1.3, therefore confirming that short- and long-term sensitization are two different phenomena triggered by distinct mechanisms. ..
- Mesirca P, Bidaud I, Mangoni M. Rescuing cardiac automaticity in L-type Cav1.3 channelopathies and beyond. J Physiol. 2016;594:5869-5879 pubmed publisher..Mutation in the CACNA1D gene encoding Cav 1...
- Fell B, Eckrich S, Blum K, Eckrich T, Hecker D, Obermair G, et al. ?2?2 Controls the Function and Trans-Synaptic Coupling of Cav1.3 Channels in Mouse Inner Hair Cells and Is Essential for Normal Hearing. J Neurosci. 2016;36:11024-11036 pubmed..This suggests that ?2?2 plays a novel role in organizing the synapse. ..
- Lieb A, Ortner N, Striessnig J. C-terminal modulatory domain controls coupling of voltage-sensing to pore opening in Cav1.3 L-type Ca(2+) channels. Biophys J. 2014;106:1467-75 pubmed publisher..2 or Cav3.1. Weak coupling of voltage sensing to pore opening is enhanced in the absence of the CTM, allowing short Cav1.342A splice variants to activate at lower voltages without affecting QON-V. ..
- Houde A, Ruchat S, Allard C, Baillargeon J, St Pierre J, Perron P, et al. LRP1B, BRD2 and CACNA1D: new candidate genes in fetal metabolic programming of newborns exposed to maternal hyperglycemia. Epigenomics. 2015;7:1111-22 pubmed publisher..in normoglycemic women, glucose levels were associated with DNA methylation changes at LRP1B and BRD2 and at CACNA1D and LRP1B gene loci in placenta and cord blood, respectively...
- Chernov Rogan T, Li T, Lu G, Verschoof H, Khakh K, Jones S, et al. Mechanism-specific assay design facilitates the discovery of Nav1.7-selective inhibitors. Proc Natl Acad Sci U S A. 2018;115:E792-E801 pubmed publisher..7-selective chemical scaffolds. Hence, we address a major hurdle in Nav1.7 drug discovery, and this mechanistic approach to assay design is applicable to Cav3.1, Kv1.3, and many other ion channels to facilitate drug discovery. ..
- Reichhart N, Markowski M, Ishiyama S, Wagner A, Crespo Garcia S, Schorb T, et al. Rab27a GTPase modulates L-type Ca2+ channel function via interaction with the II-III linker of CaV1.3 subunit. Cell Signal. 2015;27:2231-40 pubmed publisher..We show the first evidence of a direct functional modulation of an ion channel by Rab27a suggesting a new mechanism of Rab and ion channel interaction in the control of VEGF-A secretion in the RPE. ..
- Scharinger A, Eckrich S, Vandael D, SchÃ¶nig K, Koschak A, Hecker D, et al. Cell-type-specific tuning of Cav1.3 Ca(2+)-channels by a C-terminal automodulatory domain. Front Cell Neurosci. 2015;9:309 pubmed publisher..It stabilizes gating properties of Cav1.3 channels required for normal electrical excitability. ..
- Zhu G, Liu Z, Epstein J, Davis C, Christudass C, Carter H, et al. A Novel Quantitative Multiplex Tissue Immunoblotting for Biomarkers Predicts a Prostate Cancer Aggressive Phenotype. Cancer Epidemiol Biomarkers Prev. 2015;24:1864-72 pubmed publisher..We evaluated the association of six biomarkers [Periostin, (-5, -7) proPSA, CACNA1D, HER2/neu, EZH2, and Ki-67] with different Gleason scores and biochemical recurrence (BCR) on prostate cancer ..
- Marschallinger J, Sah A, Schmuckermair C, Unger M, Rotheneichner P, Kharitonova M, et al. The L-type calcium channel Cav1.3 is required for proper hippocampal neurogenesis and cognitive functions. Cell Calcium. 2015;58:606-16 pubmed publisher..Thus, modulation of LTCC activities may have a crucial impact on neurogenic responses and cognition, which should be considered for future therapeutic administration of LTCCs modulators. ..
- Berecki G, Motin L, Adams D. Mechanism of direct Cav2.2 channel block by the ?-opioid receptor agonist U50488H. Neuropharmacology. 2016;109:49-58 pubmed publisher..This cross-reactivity also suggests potentially common U50488H binding motifs across Cav channel targets. ..
- Dutta R, SÃ¶derkvist P, Gimm O. Genetics of primary hyperaldosteronism. Endocr Relat Cancer. 2016;23:R437-54 pubmed publisher..genes have been found to be mutated in aldosterone-producing adenomas: KCNJ5, ATP1A1, ATP2B3, CTNNB1, CACNA1D, CACNA1H and ARMC5 This review describes the genes currently known to be responsible for primary aldosteronism, ..
- Banerjee R, Yoder J, Yue D, Amzel L, Tomaselli G, Gabelli S, et al. Bilobal architecture is a requirement for calmodulin signaling to CaV1.3 channels. Proc Natl Acad Sci U S A. 2018;115:E3026-E3035 pubmed publisher..Overall, a unified scheme of CaV channel regulation by CaM now emerges, and our findings highlight the versatility of CaM to perform exquisite Ca2+ computations. ..
- Ramakrishnan N, Drescher M, Drescher D. Direct interaction of otoferlin with syntaxin 1A, SNAP-25, and the L-type voltage-gated calcium channel Cav1.3. J Biol Chem. 2009;284:1364-72 pubmed publisher..3 calcium channel, it is these interactions that may mediate regulation by otoferlin of hair cell synaptic exocytosis critical to inner ear hair cell function. ..
- Gebhart M, Juhasz Vedres G, Zuccotti A, Brandt N, Engel J, Trockenbacher A, et al. Modulation of Cav1.3 Ca2+ channel gating by Rab3 interacting molecule. Mol Cell Neurosci. 2010;44:246-59 pubmed publisher..3 currents which should allow these channels to carry a substantial window current during prolonged depolarizations. These data suggest that RIM2 contributes to the stabilization of Ca(v)1.3 gating kinetics in immature IHCs. ..
- Berkowitz B, Murphy G, CRAFT C, Surmeier D, Roberts R. Genetic dissection of horizontal cell inhibitory signaling in mice in complete darkness in vivo. Invest Ophthalmol Vis Sci. 2015;56:3132-9 pubmed publisher..Dark-adapted wild-type (wt), CACNA1F (Ca(v)1.4(-/-)), arrestin-1 (Arr1(-/-)), and CACNA1D (Ca(v)1.3(-/-)) C57Bl/6 mice were studied...
- Nanba K, Chen A, Omata K, Vinco M, Giordano T, Else T, et al. Molecular Heterogeneity in Aldosterone-Producing Adenomas. J Clin Endocrinol Metab. 2016;101:999-1007 pubmed publisher..Of the six adrenocortical adenomas with CYP11B2 heterogeneity, three had aldosterone-regulating mutations (CACNA1D p.F747C, KCNJ5 p.L168R, ATP1A1 p...
- Mesirca P, Bidaud I, Briec F, Evain S, Torrente A, Le Quang K, et al. G protein-gated IKACh channels as therapeutic targets for treatment of sick sinus syndrome and heart block. Proc Natl Acad Sci U S A. 2016;113:E932-41 pubmed publisher..Our data suggest that patients affected by SSS and heart block may benefit from IKACh suppression achieved by gene therapy or selective pharmacological inhibition. ..
- Lee H, Itahana Y, Schuechner S, Fukuda M, Je H, Ogris E, et al. Ca2+-dependent demethylation of phosphatase PP2Ac promotes glucose deprivation-induced cell death independently of inhibiting glycolysis. Sci Signal. 2018;11: pubmed publisher..3 (CACNA1D), followed by activation of the kinase CAMK1...
- Cooper G, Lasser Katz E, Simchovitz A, Sharon R, Soreq H, Surmeier D, et al. Functional segregation of voltage-activated calcium channels in motoneurons of the dorsal motor nucleus of the vagus. J Neurophysiol. 2015;114:1513-20 pubmed publisher..3 and other pacemaking currents. We propose that the efficacy of isradipine in preventing mOS in DMV neurons arises from its mixed effect on Cav1.3 channels and on HVA Cav1.2 channels. ..
- Murakami M, Yoshimoto T, Minami I, Bouchi R, Tsuchiya K, Hashimoto K, et al. A Novel Somatic Deletion Mutation of ATP2B3 in Aldosterone-Producing Adenoma. Endocr Pathol. 2015;26:328-33 pubmed publisher..Recent studies suggested that somatic mutations in the KCNJ5, ATP1A1, ATP2B3, and CACNA1D genes are involved in the pathogenesis of APA...
- Radhakrishnan V, Gilpatrick M, Parsa N, Kiela P, Ghishan F. Expression of Cav1.3 calcium channel in the human and mouse colon: posttranscriptional inhibition by IFN?. Am J Physiol Gastrointest Liver Physiol. 2017;312:G77-G84 pubmed publisherIt has been hypothesized that apically expressed L-type Ca2+ channel Cav1.3 (encoded by CACNA1D gene) contributes toward an alternative TRPV6-independent route of intestinal epithelial Ca2+ absorption, ..
- Liu Y, Harding M, Dore J, Chen X. Cav1.2, but not Cav1.3, L-type calcium channel subtype mediates nicotine-induced conditioned place preference in mice. Prog Neuropsychopharmacol Biol Psychiatry. 2017;75:176-182 pubmed publisher..These results collectively indicate Cav1.2, but not Cav1.3 LTCC subtype regulates, at least in part, the reinforcing effects of nicotine use. ..
- Tan G, Negro G, Pinggera A, Tizen Laim N, Mohamed Rose I, Ceral J, et al. Aldosterone-Producing Adenomas: Histopathology-Genotype Correlation and Identification of a Novel CACNA1D Mutation. Hypertension. 2017;70:129-136 pubmed publisherMutations in KCNJ5, ATP1A1, ATP2B3, CACNA1D, and CTNNB1 are thought to cause the excessive autonomous aldosterone secretion of aldosterone-producing adenomas (APAs)...
- Seino S, Yamada Y, Espinosa R, Le Beau M, Bell G. Assignment of the gene encoding the alpha 1 subunit of the neuroendocrine/brain-type calcium channel (CACNL1A2) to human chromosome 3, band p14.3. Genomics. 1992;13:1375-7 pubmed
- Cunha S, Hund T, Hashemi S, Voigt N, Li N, Wright P, et al. Defects in ankyrin-based membrane protein targeting pathways underlie atrial fibrillation. Circulation. 2011;124:1212-22 pubmed publisher..Additionally, our data demonstrate a novel pathway for ankyrin-B-dependent regulation of Ca(v)1.3 channel membrane targeting and regulation in atrial myocytes. ..
- Pinggera A, Lieb A, Benedetti B, Lampert M, Monteleone S, Liedl K, et al. CACNA1D de novo mutations in autism spectrum disorders activate Cav1.3 L-type calcium channels. Biol Psychiatry. 2015;77:816-22 pubmed publisher..A whole-exome sequencing study identified a de novo mutation, p.A749G, in Cav1.3 Î±1-subunits (CACNA1D), the second main LTCC in the brain, as 1 of 62 high risk-conferring mutations in a cohort of patients with ..
- Landstrom A, Boczek N, Ye D, Miyake C, DE LA Uz C, Allen H, et al. Novel long QT syndrome-associated missense mutation, L762F, in CACNA1C-encoded L-type calcium channel imparts a slower inactivation tau and increased sustained and window current. Int J Cardiol. 2016;220:290-8 pubmed publisher..TS-associated mutations localize to specific areas of CACNA1C and are associated with a younger age at presentation, higher QTc, and 2:1 AV block than isolated LQTS-associated mutations. ..
- Sandoval A, Duran P, Gandini M, Andrade A, Almanza A, Kaja S, et al. Regulation of L-type CaV1.3 channel activity and insulin secretion by the cGMP-PKG signaling pathway. Cell Calcium. 2017;66:1-9 pubmed publisher..These findings unveil a novel mechanism for how the cGMP-PKG signaling pathway may regulate CaV1.3 channels and contribute to regulate insulin secretion. ..
- Thongon N, Nakkrasae L, Thongbunchoo J, Krishnamra N, Charoenphandhu N. Enhancement of calcium transport in Caco-2 monolayer through PKCzeta-dependent Cav1.3-mediated transcellular and rectifying paracellular pathways by prolactin. Am J Physiol Cell Physiol. 2009;296:C1373-82 pubmed publisher..3 and PMCA, presumably through PI3K and PKC(zeta) pathways, while the enhanced voltage-dependent calcium transport occurred through PI3K and ROCK pathways. ..
- Samak G, Narayanan D, Jaggar J, Rao R. CaV1.3 channels and intracellular calcium mediate osmotic stress-induced N-terminal c-Jun kinase activation and disruption of tight junctions in Caco-2 CELL MONOLAYERS. J Biol Chem. 2011;286:30232-43 pubmed publisher..Additionally, inositol 1,4,5-trisphosphate receptor-mediated release of ER Ca(2+) also contributes to osmotic stress-induced tight junction disruption. ..
- Fernandes Rosa F, Williams T, Riester A, Steichen O, Beuschlein F, Boulkroun S, et al. Genetic spectrum and clinical correlates of somatic mutations in aldosterone-producing adenoma. Hypertension. 2014;64:354-61 pubmed publisher..Somatic mutations in KCNJ5, ATP1A1, ATP2B3, and CACNA1D have been described in aldosterone-producing adenomas (APAs)...
- Krinner S, Butola T, Jung S, Wichmann C, Moser T. RIM-Binding Protein 2 Promotes a Large Number of CaV1.3 Ca2+-Channels and Contributes to Fast Synaptic Vesicle Replenishment at Hair Cell Active Zones. Front Cell Neurosci. 2017;11:334 pubmed publisher..Recordings of auditory brainstem responses (ABR) and of single auditory nerve fiber firing showed that RIM-BP2 disruption results in a mild deficit of synaptic sound encoding...
- Sahu G, Asmara H, Zhang F, Zamponi G, Turner R. Activity-Dependent Facilitation of CaV1.3 Calcium Channels Promotes KCa3.1 Activation in Hippocampal Neurons. J Neurosci. 2017;37:11255-11270 pubmed publisher..3-densin-CaMKII interaction, identifying an important role for CaV1.3 L-CDF in regulating neuronal excitability. ..
- Toyoda F, Mesirca P, Dubel S, Ding W, Striessnig J, Mangoni M, et al. CaV1.3 L-type Ca2+ channel contributes to the heartbeat by generating a dihydropyridine-sensitive persistent Na+ current. Sci Rep. 2017;7:7869 pubmed publisher..2DHP-/- SAN cells. These findings identify CaV1.3 channels as essential molecular components of the voltage-dependent, DHP-sensitive I st Na+ current in the SAN. ..
- Huang H, Yu D, Soong T. C-terminal alternative splicing of CaV1.3 channels distinctively modulates their dihydropyridine sensitivity. Mol Pharmacol. 2013;84:643-53 pubmed publisher..2 channels, this study has therefore uncovered a novel mechanism for modulation of the pharmacologic properties of CaV1.3 channels through posttranscriptional modification of the C terminus. ..
- Joiner M, Lee A. Voltage-Gated Cav1 Channels in Disorders of Vision and Hearing. Curr Mol Pharmacol. 2015;8:143-8 pubmed..This review will cover advances in our understanding of the function of Cav1 channels at sensory ribbon synapses, and how dysregulation of these channels leads to disorders of vision and hearing. ..
- Guan F, Li L, Qiao C, Chen G, Yan T, Li T, et al. Evaluation of genetic susceptibility of common variants in CACNA1D with schizophrenia in Han Chinese. Sci Rep. 2015;5:12935 pubmed publisher..Cav1.2 encoded by CACNA1C and Cav1.3 encoded by CACNA1D are dominant calcium channel-forming subunits of L-type Voltage-dependent Ca(2+) channels, expressed in many ..
- Akerström T, Willenberg H, Cupisti K, Ip J, Backman S, Moser A, et al. Novel somatic mutations and distinct molecular signature in aldosterone-producing adenomas. Endocr Relat Cancer. 2015;22:735-44 pubmed publisher..Approximately 40% of APAs harbor a missense mutation in the KCNJ5 gene. More recently, somatic mutations in CACNA1D, ATP1A1 and ATP2B3, also important for membrane potential/intracellular Ca(2) (+) regulation, were observed in ..
- Fernandes Rosa F, Giscos Douriez I, Amar L, Gomez Sanchez C, Meatchi T, Boulkroun S, et al. Different Somatic Mutations in Multinodular Adrenals With Aldosterone-Producing Adenoma. Hypertension. 2015;66:1014-22 pubmed publisher..Somatic mutations in KCNJ5, ATP1A1, ATP2B3, and CACNA1D are found in aldosterone-producing adenoma...
- Kitamoto T, Suematsu S, Yamazaki Y, Nakamura Y, Sasano H, Matsuzawa Y, et al. Clinical and Steroidogenic Characteristics of Aldosterone-Producing Adenomas With ATPase or CACNA1D Gene Mutations. J Clin Endocrinol Metab. 2016;101:494-503 pubmed publisher..and in vitro steroidogenic activities of aldosterone-producing adenomas (APAs) harboring ATPase or CACNA1D gene mutations. Genetic testing was performed on 159 unilateral APAs...
- Sun X, Yuan J, Jin T, Cheng X, Wang Q, Guo J, et al. Physical and functional interaction of Snapin with Cav1.3 calcium channel impacts channel protein trafficking in atrial myocytes. Cell Signal. 2017;30:118-129 pubmed publisher..Our results provide the evidence of a direct regulatory role of Snapin on Cav1.3 channels in atrial myocytes, and highlight a potential role of Snapin in the regulation of Cav1.3 in atrial arrhythmogenesis. ..
- Martinez Rivera A, Hao J, Tropea T, Giordano T, Kosovsky M, Rice R, et al. Enhancing VTA Cav1.3 L-type Ca2+ channel activity promotes cocaine and mood-related behaviors via overlapping AMPA receptor mechanisms in the nucleus accumbens. Mol Psychiatry. 2017;22:1735-1745 pubmed publisher..Human studies have also linked the CACNA1D gene, which codes for the Cav1.3 protein, with bipolar disorder...
- Prasad A, Teh D, Blasiak A, Chai C, Wu Y, Gharibani P, et al. Static Magnetic Field Stimulation Enhances Oligodendrocyte Differentiation and Secretion of Neurotrophic Factors. Sci Rep. 2017;7:6743 pubmed publisher..2 and CaV1.3. Our findings emphasize the ability of glial cells such as OPCs to positively respond to moderate intensity SMF stimulation by exhibiting enhanced differentiation, functionality as well as neurotrophic factor release. ..
- Seino S, Chen L, Seino M, Blondel O, Takeda J, Johnson J, et al. Cloning of the alpha 1 subunit of a voltage-dependent calcium channel expressed in pancreatic beta cells. Proc Natl Acad Sci U S A. 1992;89:584-8 pubmed..In situ hybridization studies revealed expression of beta-cell-type alpha 1 subunit mRNA in beta cells of rat pancreatic islets, implying that this protein may play a role in the regulation of insulin secretion. ..
- Yang S, Larsson O, Branstrom R, Bertorello A, Leibiger B, Leibiger I, et al. Syntaxin 1 interacts with the L(D) subtype of voltage-gated Ca(2+) channels in pancreatic beta cells. Proc Natl Acad Sci U S A. 1999;96:10164-9 pubmed..This suggests that there is a structure-function relationship between the alpha(1D) subunit of the L type Ca(2+) channel and the exocytotic machinery in the pancreatic beta cell. ..
- Nakkrasae L, Thongon N, Thongbunchoo J, Krishnamra N, Charoenphandhu N. Transepithelial calcium transport in prolactin-exposed intestine-like Caco-2 monolayer after combinatorial knockdown of TRPV5, TRPV6 and Ca(v)1.3. J Physiol Sci. 2010;60:9-17 pubmed publisher..3, TRPV6/Ca(v)1.3 and TRPV5/TRPV6/Ca(v)1.3 KD monolayers. The results suggested that Ca(v)1.3 was the sole apical channel responsible for the PRL-stimulated transcellular calcium transport in intestine-like Caco-2 monolayer. ..
- Hao J, Bao X, Jin B, Wang X, Mao Z, Li X, et al. Ca2+ channel subunit Î± 1D promotes proliferation and migration of endometrial cancer cells mediated by 17Î²-estradiol via the G protein-coupled estrogen receptor. FASEB J. 2015;29:2883-93 pubmed publisher..L-type channel Cav1.3 is required for estrogen-stimulated Ca(2+) influx and contributes broadly to the development of endometrial cancer. The Cav1.3 channel may be a new target for endometrial carcinoma treatment. ..
- Maniero C, Garg S, Zhao W, Johnson T, Zhou J, Gurnell M, et al. NEFM (Neurofilament Medium) Polypeptide, a Marker for Zona Glomerulosa Cells in Human Adrenal, Inhibits D1R (Dopamine D1 Receptor)-Mediated Secretion of Aldosterone. Hypertension. 2017;70:357-364 pubmed publisher..i>KCNJ5 mutations predominate in large zona fasciculata (ZF)-like APAs; mutations in CACNA1D, ATP1A1, ATP2B3, and CTNNB1 are more likely to be found in small zona glomerulosa (ZG)-like ..
- Mori Y, Friedrich T, Kim M, Mikami A, Nakai J, Ruth P, et al. Primary structure and functional expression from complementary DNA of a brain calcium channel. Nature. 1991;350:398-402 pubmed..This channel is a high voltage-activated calcium channel that is insensitive both to nifedipine and to omega-conotoxin. We suggest that it is expressed predominantly in cerebellar Purkinje cells and granule cells. ..
- Qu Y, Baroudi G, Yue Y, Boutjdir M. Novel molecular mechanism involving alpha1D (Cav1.3) L-type calcium channel in autoimmune-associated sinus bradycardia. Circulation. 2005;111:3034-41 pubmed..In addition, Bay K8644 rescue of alpha1D I(Ca-L) inhibition opens new directions in the development of pharmacotherapeutic approaches in the management of CHB. ..
- Karnabi E, Qu Y, Yue Y, Boutjdir M. Calreticulin negatively regulates the surface expression of Cav1.3 L-type calcium channel. Biochem Biophys Res Commun. 2013;437:497-501 pubmed publisher..The data demonstrate a novel mechanism of modulation of Cav1.3 Ca channel by calreticulin, which may be involved in pathological settings such as autoimmune associated congenital heart block where Cav1.3 Ca channels are downregulated. ..
- Bazzazi H, Ben Johny M, Adams P, Soong T, Yue D. Continuously tunable Ca(2+) regulation of RNA-edited CaV1.3 channels. Cell Rep. 2013;5:367-77 pubmed publisher..This adjustability of Ca(2+) regulation by CaM now looms as a key element of CNS Ca(2+) homeostasis. ..
- Ji Y, Han Z, Shao L, Zhao Y. Ultrasound-targeted microbubble destruction of calcium channel subunit ? 1D siRNA inhibits breast cancer via G protein-coupled receptor 30. Oncol Rep. 2016;36:1886-92 pubmed publisher..The study confirmed that the mechanism of E2 inducing the expression of Cav1.3 through a non-genomic pathway, and highlighted that UTMD of Cav1.3 siRNA is a powerful promising technology for breast cancer gene therapy. ..
- Kabir Z, Martinez Rivera A, Rajadhyaksha A. From Gene to Behavior: L-Type Calcium Channel Mechanisms Underlying Neuropsychiatric Symptoms. Neurotherapeutics. 2017;14:588-613 pubmed publisherThe L-type calcium channels (LTCCs) Cav1.2 and Cav1.3, encoded by the CACNA1C and CACNA1D genes, respectively, are important regulators of calcium influx into cells and are critical for normal brain development and ..
- Wang P, Fan X, Wang Y, Fan Y, Liu Y, Zhang S, et al. Target sequencing of 307 deafness genes identifies candidate genes implicated in microtia. Oncotarget. 2017;8:63324-63332 pubmed publisher..several strong candidate genes MUC4, MUC6, COL4A4, MYO7A, AKAP12, COL11A1, DSPP, ESPN, GPR98, PCDH15, BSN, CACNA1D, TPRN, and USH1C for microtia (P = 2.51 × 10-4)...