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Select item 113014171.

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

Abstract Article PDF–5.3M

Select item 101226272.

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

Abstract Article PDF–974K

Select item 96704003.

Electrophysiological and computational analysis of Ca_v3.2 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

Abstract Article PDF–4.4M

Select item 94686184.

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

Abstract Article PDF–212K

Select item 92626145.

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

Abstract Article PDF–3.6M

Select item 92181836.

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

Abstract Article PDF–3.6M

Select item 84511147.

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

Abstract Article PDF–1.3M

Select item 83659588.

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

Abstract Article PDF–1.5M

Select item 81650309.

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

Abstract Article PDF–2.2M

Select item 781917910.

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

Abstract Article PDF–1.2M

Select item 765923411.

Functional identification of potential non-canonical N-glycosylation sites within Ca_v3.2 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

Abstract Article PDF–1.1M

Select item 730176612.

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

Abstract Article PDF–545K

Select item 706064013.

A rare CACNA1H variant associated with amyotrophic lateral sclerosis causes complete loss of Ca_v3.2 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

Abstract Article PDF–2.3M

Select item 705901614.

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

Abstract Article PDF–427K

Select item 694893815.

Cdk5-Dependent Phosphorylation of Ca_V3.2 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

Abstract Article PDF–2.0M

Select item 674084616.

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

Abstract Article PDF–306K

Select item 671283417.

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

Abstract Article PDF–762K

Select item 667206518.

The I–II Loop Controls Plasma Membrane Expression and Gating of Ca_v3.2 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

Abstract Article PDF–650K

Select item 666494919.

A Ca_v3.2 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

Abstract Article PDF–514K

Select item 643556220.

Association of single nucleotide polymorphisms in CACNA 1A/CACNA 1C/CACNA 1H calcium channel genes with diabetic peripheral neuropathy in Chinese population

Lin Sun, Jun Ma, Qian Mao, Yun-Long Yang, Lin-Lin Ma, Ling Niu, Li-Feng Liu

Biosci Rep. 2018 Jun 29; 38(3): BSR20171670. Prepublished online 2018 Mar 26. Published online 2018 May 28. doi: 10.1042/BSR20171670

PMCID:: PMC6435562

Abstract Article PDF–672K

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