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Items: 1 to 20 of 64

1.
Genetic variants and down-regulation of CACNA1H in pheochromocytoma
Fredrika Svahn, Karolina Solhusløkk Höse, Adam Stenman, Yaxuan Liu, Jan Calissendorff, Emma Tham, Ákos Végvári, Roman A Zubarev, Na Wang, Reju Korah, Tobias Carling, Jan Zedenius, Robert Bränström, C Christofer Juhlin, Catharina Larsson
Endocr Relat Cancer. 2024 Sep 1; 31(9): e230061. Prepublished online 2024 Jun 12. Published online 2024 Jul 8. doi: 10.1530/ERC-23-0061
PMCID:
PMC11301417
AbstractArticlePDF–5.3M
2.
Antagonistic roles of canonical and alternative-RPA in disease-associated tandem CAG repeat instability
Terence Gall-Duncan, Jennifer Luo, Carla-Marie Jurkovic, Laura A. Fischer, Kyota Fujita, Amit L. Deshmukh, Rachel J. Harding, Stephanie Tran, Mustafa Mehkary, Vanessa Li, David E. Leib, Ran Chen, Hikari Tanaka, Amanda G. Mason, Dominique Lévesque, Mahreen Khan, Mortezaali Razzaghi, Tanya Prasolava, Stella Lanni, Nozomu Sato, Marie-Christine Caron, Gagan B. Panigrahi, Peixiang Wang, Rachel Lau, Arturo López Castel, Jean-Yves Masson, Lynette Tippett, Clinton Turner, Maria Spies, Albert R. La Spada, Eric I. Campos, Maurice A. Curtis, François-Michel Boisvert, Richard L.M. Faull, Beverly L. Davidson, Masayuki Nakamori, Hitoshi Okazawa, Marc S. Wold, Christopher E. Pearson
Cell. Author manuscript; available in PMC 2024 Oct 26.
Published in final edited form as: Cell. 2023 Oct 26; 186(22): 4898–4919.e25. Published online 2023 Oct 11. doi: 10.1016/j.cell.2023.09.008
PMCID:
PMC11209935
AbstractArticlePDF–3.0M
3.
Whole Exome Sequencing of Hemiplegic Migraine Patients Shows an Increased Burden of Missense Variants in CACNA1H and CACNA1I Genes
Neven Maksemous, Aster V. E. Harder, Omar Ibrahim, Lisanne S. Vijfhuizen, Heidi Sutherland, Nadine Pelzer, Irene de Boer, Gisela M. Terwindt, Rodney A. Lea, Arn M. J. M. van den Maagdenberg, Lyn R. Griffiths
Mol Neurobiol. 2023; 60(6): 3034–3043. Published online 2023 Feb 14. doi: 10.1007/s12035-023-03255-5
PMCID:
PMC10122627
AbstractArticlePDF–974K
4.
Electrophysiological and computational analysis of Cav3.2 channel variants associated with familial trigeminal neuralgia
Emilio R. Mustafá, Eder Gambeta, Robin N. Stringer, Ivana A. Souza, Gerald W. Zamponi, Norbert Weiss
Mol Brain. 2022; 15: 91. Published online 2022 Nov 17. doi: 10.1186/s13041-022-00978-9
PMCID:
PMC9670400
AbstractArticlePDF–4.4M
5.
Mechanistic contribution of CaV3.2 calcium channels to trigeminal neuralgia pathophysiology not clarified
Wolfgang Liedtke
Version 2. F1000Res. 2022; 11: 718. Published online 2022 Jul 27. doi: 10.12688/f1000research.122997.2
PMCID:
PMC9468618
AbstractArticlePDF–212K
6.
A dual-activity topoisomerase complex regulates mRNA translation and turnover
Shuaikun Su, Yutong Xue, Alexei Sharov, Yongqing Zhang, Seung Kyu Lee, Jennifer L Martindale, Wen Li, Wai Lim Ku, Keji Zhao, Supriyo De, Weiping Shen, Payel Sen, Myriam Gorospe, Dongyi Xu, Weidong Wang
Nucleic Acids Res. 2022 Jul 8; 50(12): 7013–7033. Published online 2022 Jun 24. doi: 10.1093/nar/gkac538
PMCID:
PMC9262614
AbstractArticlePDF–3.6M
7.
A Novel Somatic Mutation of CACNA1H p.V1937M in Unilateral Primary Hyperaldosteronism
Chi-Shin Tseng, Kang-Yung Peng, Shuo-Meng Wang, Yao-Chou Tsai, Kuo-How Huang, Wei-Chou Lin, Ya-Hui Hu, Vin-Cent Wu, Jeff S. Chueh
Front Endocrinol (Lausanne) 2022; 13: 816476. Published online 2022 Jun 9. doi: 10.3389/fendo.2022.816476
PMCID:
PMC9218183
AbstractArticlePDF–3.6M
8.
Splice-variant specific effects of a CACNA1H mutation associated with writer’s cramp
Ivana A. Souza, Maria A. Gandini, Gerald W. Zamponi
Mol Brain. 2021; 14: 145. Published online 2021 Sep 20. doi: 10.1186/s13041-021-00861-z
PMCID:
PMC8451114
AbstractArticlePDF–1.3M
9.
De novo SCN8A and inherited rare CACNA1H variants associated with severe developmental and epileptic encephalopathy
Robin N. Stringer, Bohumila Jurkovicova-Tarabova, Ivana A. Souza, Judy Ibrahim, Tomas Vacik, Waseem Mahmoud Fathalla, Jozef Hertecant, Gerald W. Zamponi, Lubica Lacinova, Norbert Weiss
Mol Brain. 2021; 14: 126. Published online 2021 Aug 16. doi: 10.1186/s13041-021-00838-y
PMCID:
PMC8365958
AbstractArticlePDF–1.5M
10.
Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome
Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi
Cell. Author manuscript; available in PMC 2022 May 27.
Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011
PMCID:
PMC8165030
AbstractArticlePDF–2.2M
11.
Rare functional missense variants in CACNA1H: What can we learn from Writer’s cramp?
Miaozhen Huang, Esther A. R. Nibbeling, Tjerk J. Lagrand, Ivana A. Souza, Justus L. Groen, Maria A. Gandini, Fang-Xiong Zhang, Johannes H. T. M. Koelman, Noam Adir, Richard J. Sinke, Gerald W. Zamponi, Marina A. J. Tijssen, Dineke S. Verbeek
Mol Brain. 2021; 14: 18. Published online 2021 Jan 21. doi: 10.1186/s13041-021-00736-3
PMCID:
PMC7819179
AbstractArticlePDF–1.2M
12.
Functional identification of potential non-canonical N-glycosylation sites within Cav3.2 T-type calcium channels
Vendula Ficelova, Ivana A. Souza, Leos Cmarko, Maria A. Gandini, Robin N. Stringer, Gerald W. Zamponi, Norbert Weiss
Mol Brain. 2020; 13: 149. Published online 2020 Nov 11. doi: 10.1186/s13041-020-00697-z
PMCID:
PMC7659234
AbstractArticlePDF–1.1M
13.
CACNA1H variants are not a cause of monogenic epilepsy.
Jeffrey D. Calhoun, Alexandra M Huffman, Irena Bellinski, Lisa Kinsley, Elizabeth Bachman, Elizabeth Gerard, Jennifer A. Kearney, Gemma L. Carvill
Hum Mutat. Author manuscript; available in PMC 2021 Jun 1.
Published in final edited form as: Hum Mutat. 2020 Jun; 41(6): 1138–1144. Published online 2020 Apr 14. doi: 10.1002/humu.24017
PMCID:
PMC7301766
AbstractArticlePDF–545K
14.
A rare CACNA1H variant associated with amyotrophic lateral sclerosis causes complete loss of Cav3.2 T-type channel activity
Robin N. Stringer, Bohumila Jurkovicova-Tarabova, Sun Huang, Omid Haji-Ghassemi, Romane Idoux, Anna Liashenko, Ivana A. Souza, Yuriy Rzhepetskyy, Lubica Lacinova, Filip Van Petegem, Gerald W. Zamponi, Roger Pamphlett, Norbert Weiss
Mol Brain. 2020; 13: 33. Published online 2020 Mar 6. doi: 10.1186/s13041-020-00577-6
PMCID:
PMC7060640
AbstractArticlePDF–2.3M
15.
Somatic CACNA1H mutation as a cause of aldosterone-producing adenoma
Kazutaka Nanba, Amy R. Blinder, Juilee Rege, Namita G. Hattangady, Tobias Else, Chia-Jen Liu, Scott A. Tomlins, Pankaj Vats, Chandan Kumar-Sinha, Thomas J. Giordano, William E. Rainey
Hypertension. Author manuscript; available in PMC 2021 Mar 1.
Published in final edited form as: Hypertension. 2020 Mar; 75(3): 645–649. Published online 2020 Jan 27. doi: 10.1161/HYPERTENSIONAHA.119.14349
PMCID:
PMC7059016
AbstractArticlePDF–427K
16.
Cdk5-Dependent Phosphorylation of CaV3.2 T-Type Channels: Possible Role in Nerve Ligation-Induced Neuropathic Allodynia and the Compound Action Potential in Primary Afferent C Fibers
Kimberly Gomez, Aida Calderón-Rivera, Alejandro Sandoval, Ricardo González-Ramírez, Alberto Vargas-Parada, Julia Ojeda-Alonso, Vinicio Granados-Soto, Rodolfo Delgado-Lezama, Ricardo Felix
J Neurosci. 2020 Jan 8; 40(2): 283–296. doi: 10.1523/JNEUROSCI.0181-19.2019
PMCID:
PMC6948938
AbstractArticlePDF–2.0M
17.
A Mechanism for the Direct Regulation of T-Type Calcium Channels by Ca2+/Calmodulin-Dependent Kinase II
Philip J. Welsby, Hongge Wang, Joshua T. Wolfe, Roger J. Colbran, Michael L. Johnson, Paula Q. Barrett
J Neurosci. 2003 Nov 5; 23(31): 10116–10121. doi: 10.1523/JNEUROSCI.23-31-10116.2003
PMCID:
PMC6740846
AbstractArticlePDF–306K
18.
SUMOylation regulates USP5-Cav3.2 calcium channel interactions
Agustin Garcia-Caballero, Fang-Xiong Zhang, Lina Chen, Said M’Dahoma, Junting Huang, Gerald W. Zamponi
Mol Brain. 2019; 12: 73. Published online 2019 Aug 27. doi: 10.1186/s13041-019-0493-9
PMCID:
PMC6712834
AbstractArticlePDF–762K
19.
The I–II Loop Controls Plasma Membrane Expression and Gating of Cav3.2 T-Type Ca2+ Channels: A Paradigm for Childhood Absence Epilepsy Mutations
Iuliia Vitko, Isabelle Bidaud, Juan Manuel Arias, Alexandre Mezghrani, Philippe Lory, Edward Perez-Reyes
J Neurosci. 2007 Jan 10; 27(2): 322–330. doi: 10.1523/JNEUROSCI.1817-06.2007
PMCID:
PMC6672065
AbstractArticlePDF–650K
20.
A Cav3.2 T-Type Calcium Channel Point Mutation Has Splice-Variant-Specific Effects on Function and Segregates with Seizure Expression in a Polygenic Rat Model of Absence Epilepsy
Kim L. Powell, Stuart M. Cain, Caroline Ng, Shreerang Sirdesai, Laurence S. David, Mervyn Kyi, Esperanza Garcia, John R. Tyson, Christopher A. Reid, Melanie Bahlo, Simon J. Foote, Terrance P. Snutch, Terence J. O'Brien
J Neurosci. 2009 Jan 14; 29(2): 371–380. doi: 10.1523/JNEUROSCI.5295-08.2009
PMCID:
PMC6664949
AbstractArticlePDF–514K

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