| Pathogenicity of de novo CACNA1D Ca[2+] channel variants predicted from sequence co-variation. | Pathogenicity of de novo CACNA1D Ca(2+) channel variants predicted from sequence co-variation.
Tang X, Ortner NJ, Nikonishyna YV, Fernández-Quintero ML, Kokot J, Striessnig J, Liedl KR., Free PMC Article | 09/10/2024 |
| Association between CACNA1D polymorphisms and hypospadias in a southern Chinese population. | Association between CACNA1D polymorphisms and hypospadias in a southern Chinese population.
He Y, Li B, Zhao X, Pan L, Liu Y, Lan C, Deng F, Fu W, Zhang Y, Zuo X. | 06/18/2024 |
| CaV1.3 channel clusters characterized by live-cell and isolated plasma membrane nanoscopy. | Ca(V)1.3 channel clusters characterized by live-cell and isolated plasma membrane nanoscopy.
Schwenzer N, Teiwes NK, Kohl T, Pohl C, Giller MJ, Lehnart SE, Steinem C., Free PMC Article | 06/3/2024 |
| CACNA1D Gene Polymorphisms Associate With Increased Blood Pressure and Salt Sensitivity of Blood Pressure in White Individuals. | CACNA1D Gene Polymorphisms Associate With Increased Blood Pressure and Salt Sensitivity of Blood Pressure in White Individuals.
Stanton AM, Heydarpour M, Williams JS, Williams GH, Adler GK., Free PMC Article | 11/18/2023 |
| The human channel gating-modifying A749G CACNA1D (Cav1.3) variant induces a neurodevelopmental syndrome-like phenotype in mice. | The human channel gating-modifying A749G CACNA1D (Cav1.3) variant induces a neurodevelopmental syndrome-like phenotype in mice.
Ortner NJ, Sah A, Paradiso E, Shin J, Stojanovic S, Hammer N, Haritonova M, Hofer NT, Marcantoni A, Guarina L, Tuluc P, Theiner T, Pitterl F, Ebner K, Oberacher H, Carbone E, Stefanova N, Ferraguti F, Singewald N, Roeper J, Striessnig J., Free PMC Article | 11/8/2023 |
| CACNA1D-Related Channelopathies: From Hypertension to Autism. | CACNA1D-Related Channelopathies: From Hypertension to Autism.
Ortner NJ. | 08/2/2023 |
| CACNA1D overexpression and voltage-gated calcium channels in prostate cancer during androgen deprivation. | CACNA1D overexpression and voltage-gated calcium channels in prostate cancer during androgen deprivation.
McKerr N, Mohd-Sarip A, Dorrian H, Breen C, A James J, McQuaid S, Mills IG, McCloskey KD., Free PMC Article | 03/24/2023 |
| The ubiquitin E3 ligase Parkin regulates neuronal CaV1.3 channel functional expression. | The ubiquitin E3 ligase Parkin regulates neuronal Ca(V)1.3 channel functional expression.
Grimaldo L, Sandoval A, Duran P, Gómez Flores-Ramos L, Felix R. | 12/10/2022 |
| Whole Exome Sequencing Identifies a Heterozygous Variant in the Cav1.3 Gene CACNA1D Associated with Familial Sinus Node Dysfunction and Focal Idiopathic Epilepsy. | Whole Exome Sequencing Identifies a Heterozygous Variant in the Cav1.3 Gene CACNA1D Associated with Familial Sinus Node Dysfunction and Focal Idiopathic Epilepsy.
Rinné S, Stallmeyer B, Pinggera A, Netter MF, Matschke LA, Dittmann S, Kirchhefer U, Neudorf U, Opp J, Striessnig J, Decher N, Schulze-Bahr E., Free PMC Article | 12/10/2022 |
| Histopathology and Genetic Causes of Primary Aldosteronism in Young Adults. | Histopathology and Genetic Causes of Primary Aldosteronism in Young Adults.
Nanba K, Baker JE, Blinder AR, Bick NR, Liu CJ, Lim JS, Wachtel H, Cohen DL, Williams TA, Reincke M, Lyden ML, Bancos I, Young WF, Else T, Giordano TJ, Udager AM, Rainey WE., Free PMC Article | 08/27/2022 |
| Novel re-expression of L-type calcium channel Cav1.3 in left ventricles of failing human heart. | Novel re-expression of L-type calcium channel Ca(v)1.3 in left ventricles of failing human heart.
Srivastava U, Jennings-Charles R, Qu YS, Sossalla S, Chahine M, Boutjdir M. | 09/4/2021 |
| Stimulation of L-type calcium channels increases tyrosine hydroxylase and dopamine in ventral midbrain cells induced from somatic cells. | Stimulation of L-type calcium channels increases tyrosine hydroxylase and dopamine in ventral midbrain cells induced from somatic cells.
Jefri M, Bell S, Peng H, Hettige N, Maussion G, Soubannier V, Wu H, Silveira H, Theroux JF, Moquin L, Zhang X, Aouabed Z, Krishnan J, O'Leary LA, Antonyan L, Zhang Y, McCarty V, Mechawar N, Gratton A, Schuppert A, Durcan TM, Fon EA, Ernst C., Free PMC Article | 07/3/2021 |
| Biophysical classification of a CACNA1D de novo mutation as a high-risk mutation for a severe neurodevelopmental disorder. | Biophysical classification of a CACNA1D de novo mutation as a high-risk mutation for a severe neurodevelopmental disorder.
Hofer NT, Tuluc P, Ortner NJ, Nikonishyna YV, Fernándes-Quintero ML, Liedl KR, Flucher BE, Cox H, Striessnig J., Free PMC Article | 01/2/2021 |
| Cdk5 phosphorylates CaV1.3 channels and regulates GABAA-mediated miniature inhibitory post-synaptic currents in striato-nigral terminals. | Cdk5 phosphorylates Ca(V)1.3 channels and regulates GABA(A)-mediated miniature inhibitory post-synaptic currents in striato-nigral terminals.
Loya-López S, Sandoval A, González-Ramírez R, Calderón-Rivera A, Ávalos-Fuentes A, Rodríguez-Sánchez M, Caballero R, Tovar-Soto D, Felix R, Florán B. | 09/26/2020 |
| MiR-1976 plays an important role in the SAN aging process by targeting Cav1.2 and Cav1.3. | MicroRNA-1976 regulates degeneration of the sinoatrial node by targeting Ca(v)1.2 and Ca(v)1.3 ion channels.
Zhang J, Wei F, Ding L, Wang L, Zhang X, Yu L, Liu R, Kuang X, Jiao B, Yang B, Fan J. | 06/27/2020 |
| Interaction between C-Terminal CaV1.3 Isoforms and Calmodulin | Single-Channel Resolution of the Interaction between C-Terminal Ca(V)1.3 Isoforms and Calmodulin.
Kuzmenkina E, Novikova E, Jangsangthong W, Matthes J, Herzig S., Free PMC Article | 02/29/2020 |
| The CACNA1D rs9810888 polymorphism was significantly associated with elevated blood pressure. In addition, unhealthy lifestyle behaviors and rs9810888 GG genotype had combined effects on blood pressure levels in Chinese children. | Combined effects of the rs9810888 polymorphism in calcium voltage-gated channel subunit alpha1 D (CACNA1D) and lifestyle behaviors on blood pressure level among Chinese children.
Yang YD, Song JY, Wang S, Wang Y, Song QY, Dong YH, Li CX, Wang HJ, Ma J., Free PMC Article | 02/1/2020 |
| new findings together with previously published data allow classification of pathogenic CACNA1D mutations into four categories based on prototypical functional changes | Gating defects of disease-causing de novo mutations in Ca(v)1.3 Ca(2+) channels.
Pinggera A, Negro G, Tuluc P, Brown MJ, Lieb A, Striessnig J., Free PMC Article | 08/17/2019 |
| alpha1D is involved in the regulation of Ca(2+) homeostasis and cell migration by a mechanism independent of its plasma membrane canonical function but that involved plasma membrane Na(+)/Ca(2+) exchanger | Ca(2+) protein alpha 1D of CaV1.3 regulates intracellular calcium concentration and migration of colon cancer cells through a non-canonical activity.
Fourbon Y, Guéguinou M, Félix R, Constantin B, Uguen A, Fromont G, Lajoie L, Magaud C, Lecomte T, Chamorey E, Chatelier A, Mignen O, Potier-Cartereau M, Chantôme A, Bois P, Vandier C., Free PMC Article | 07/6/2019 |
| Next-generation sequencing of DNA from Idiopathic Hyperaldosteronism Aldosterone-producing cell cluster demonstrated high prevalence of mutations in the CACNA1D L-type calcium channel. | Cellular and Genetic Causes of Idiopathic Hyperaldosteronism.
Omata K, Satoh F, Morimoto R, Ito S, Yamazaki Y, Nakamura Y, Anand SK, Guo Z, Stowasser M, Sasano H, Tomlins SA, Rainey WE., Free PMC Article | 04/20/2019 |
| results reveal a critical extracellular determinant of current density for all Cav family members and of voltage-dependent inactivation of Cav1.3 and Cav2.1 channels | Role of a conserved glutamine in the function of voltage-gated Ca(2+) channels revealed by a mutation in human CACNA1D.
Garza-Lopez E, Lopez JA, Hagen J, Sheffer R, Meiner V, Lee A., Free PMC Article | 04/13/2019 |
| CACNA1D mutation is associated with sinoatrial node dysfunction and deafness . | Identification of CACNA1D variants associated with sinoatrial node dysfunction and deafness in additional Pakistani families reveals a clinical significance.
Liaqat K, Schrauwen I, Raza SI, Lee K, Hussain S, Chakchouk I, Nasir A, Acharya A, Abbe I, Umair M, Ansar M, Ullah I, Shah K, University of Washington Center for Mendelian Genomics, Bamshad MJ, Nickerson DA, Ahmad W, Leal SM., Free PMC Article | 03/23/2019 |
| Although both otoferlin and synaptotagmin bind membrane fusion SNARE proteins, only otoferlin interacts with the L-type calcium channel Cav1.3. | Otoferlin is a multivalent calcium-sensitive scaffold linking SNAREs and calcium channels.
Hams N, Padmanarayana M, Qiu W, Johnson CP., Free PMC Article | 06/9/2018 |
| Study have showned a significant effect of the autism-associated mutation A760G on the gating of CaV1.3 such that channel activation is significantly left-shifted, Ca(2+)-dependent inactivation is decreased, and deactivation is slowed, resulting in excess Ca2+ entry. However, these effects are mitigated by an increase in voltage-dependent inactivation. Also, A760G mutation differentially affects CaV1.3 splice variants. | An autism-associated mutation in CaV1.3 channels has opposing effects on voltage- and Ca(2+)-dependent regulation.
Limpitikul WB, Dick IE, Ben-Johny M, Yue DT., Free PMC Article | 04/28/2018 |
| Data suggest that p.G403D mutation in CACNA1D causes persistent hyperinsulinaemic hypoglycaemia with heart defects (presenting as aortic valve insufficiency) and severe neuromuscular disease (presenting as hypotonia); this study involves DNA mutational analysis in one patient plus 2 unrelated patients. [CASE REPORT] | A CACNA1D mutation in a patient with persistent hyperinsulinaemic hypoglycaemia, heart defects, and severe hypotonia.
Flanagan SE, Vairo F, Johnson MB, Caswell R, Laver TW, Lango Allen H, Hussain K, Ellard S., Free PMC Article | 03/10/2018 |