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Select item 113584811.

Ca_V1.1 voltage-sensing domain III exclusively controls skeletal muscle excitation-contraction coupling

Simone Pelizzari, Martin C. Heiss, Monica L. Fernández-Quintero, Yousra El Ghaleb, Klaus R. Liedl, Petronel Tuluc, Marta Campiglio, Bernhard E. Flucher

Nat Commun. 2024; 15: 7440. Published online 2024 Aug 28. doi: 10.1038/s41467-024-51809-5

PMCID:: PMC11358481

Abstract Article PDF–2.6M

Select item 112294132.

CACNA1S mutation-associated dental anomalies: A calcium channelopathy

P. Kantaputra, A. Butali, S. Eliason, C. Chalkley, S. Nakornchai, C. Bongkochwilawan, K. Kawasaki, A. Kumchiang, C. Ngamphiw, S. Tongsima, J. R. Ketudat Cairns, B. Olsen, W. Intachai, A. Ohazama, A. S. Tucker, B. A. Amendt

Oral Dis. Author manuscript; available in PMC 2024 Jul 8.

Published in final edited form as: Oral Dis. 2024 Apr; 30(3): 1350–1359. Published online 2023 Mar 13. doi: 10.1111/odi.14551

PMCID:: PMC11229413

Abstract Article PDF–2.6M

Select item 106346523.

CACNA1S Variant Associated With a Myalgic Myopathy Phenotype

Vesa Periviita, Johanna Palmio, Manu Jokela, Paivi Hartikainen, Anna Vihola, Tuomas Rauramaa, Bjarne Udd

Neurology. 2023 Oct 31; 101(18): e1779–e1786. doi: 10.1212/WNL.0000000000207639

PMCID:: PMC10634652

Abstract Article PDF–519K

Select item 103792354.

Congenital Myopathy as a Phenotypic Expression of CACNA1S Gene Mutation: Case Report and Systematic Review of the Literature

Gemma Marinella, Alessandro Orsini, Massimo Scacciati, Elisa Costa, Andrea Santangelo, Guja Astrea, Silvia Frosini, Rosa Pasquariello, Anna Rubegni, Giada Sgherri, Martina Corsi, Alice Bonuccelli, Roberta Battini

Genes (Basel) 2023 Jul; 14(7): 1363. Published online 2023 Jun 28. doi: 10.3390/genes14071363

PMCID:: PMC10379235

Abstract Article PDF–3.4M

Select item 90669045.

Four calcium signaling pathway-related genes were upregulated in microcystic adnexal carcinoma: transcriptome analysis and immunohistochemical validation

Shuaixia Yu, Yang Wang, Baijie Tang, Xiang Liu, Linhong Song, Gang Xu, Hong Zhu, Huajun Sun

World J Surg Oncol. 2022; 20: 142. Published online 2022 May 4. doi: 10.1186/s12957-022-02601-6

PMCID:: PMC9066904

Abstract Article PDF–3.4M

Select item 90601836.

Short-Communication: Variable Expression of Clinical Symptoms and an Unexpected Finding of Vacuolar Myopathy Related to a Pathogenic Variant in the CACNA1S Gene in a Previous Case Report

Edmar O Benítez-Alonso, Juan C López-Hernández, Javier A Galnares-Olalde, Raúl E Alcalá, Edwin S Vargas-Cañas

Cureus. 2022 Apr; 14(4): e23760. Published online 2022 Apr 2. doi: 10.7759/cureus.23760

PMCID:: PMC9060183

Abstract Article PDF–159K

Select item 88365957.

Analysis of Factors That May Affect the Effectiveness of Ketogenic Diet Treatment in Pediatric and Adolescent Patients

Anna Winczewska-Wiktor, Adam Sebastian Hirschfeld, Magdalena Badura-Stronka, Paulina Komasińska-Piotrowska, Barbara Steinborn

J Clin Med. 2022 Feb; 11(3): 606. Published online 2022 Jan 25. doi: 10.3390/jcm11030606

PMCID:: PMC8836595

Abstract Article PDF–1.3M

Select item 87690728.

Proteome‐scale mapping of binding sites in the unstructured regions of the human proteome

Caroline Benz, Muhammad Ali, Izabella Krystkowiak, Leandro Simonetti, Ahmed Sayadi, Filip Mihalic, Johanna Kliche, Eva Andersson, Per Jemth, Norman E Davey, Ylva Ivarsson

Mol Syst Biol. 2022 Jan; 18(1): e10584. Published online 2022 Jan 19. doi: 10.15252/msb.202110584

PMCID:: PMC8769072

Abstract Article PDF–2.9M

Select item 87684619.

Novel CACNA1S mutation in hypokalaemic periodic paralysis

Telma Luís, Maria Inês Linhares, Sónia Regina Silva, Filipa Rodrigues

BMJ Case Rep. 2022; 15(1): e245952. Published online 2022 Jan 17. doi: 10.1136/bcr-2021-245952

PMCID:: PMC8768461

Abstract Article PDF–195K

Select item 859911110.

Vacuolar Myopathy Associated to CACNA1S Mutation as a Rare Cause of Late-Onset Limb-Girdle Myopathy: A Case Report

Juan Carlos López-Hernández, Javier A Galnares-Olalde, Edmar Benitez-Alonso, Raul E Alcalá, Edwin Steven Vargas-Cañas

Cureus. 2021 Oct; 13(10): e18873. Published online 2021 Oct 18. doi: 10.7759/cureus.18873

PMCID:: PMC8599111

Abstract Article PDF–279K

Select item 858664811.

Case Report: A Novel CACNA1S Mutation Associated With Hypokalemic Periodic Paralysis in a Chinese Family

Jie-Yuan Jin, Bing-Bing Guo, Yi Dong, Yue Sheng, Liang-Liang Fan, Li-Bing Zhang

Front Genet. 2021; 12: 743184. Published online 2021 Oct 29. doi: 10.3389/fgene.2021.743184

PMCID:: PMC8586648

Abstract Article PDF–710K

Select item 856328012.

Gating pore currents occur in Ca_V1.1 domain III mutants associated with HypoPP

Fenfen Wu, Marbella Quinonez, Stephen C. Cannon

J Gen Physiol. 2021 Nov 1; 153(11): e202112946. Published online 2021 Aug 31. doi: 10.1085/jgp.202112946

PMCID:: PMC8563280

Abstract Article PDF–4.3M

Select item 830719413.

Cullin 1 (CUL1) Promotes Primary Ciliogenesis through the Induction of Ubiquitin-Proteasome-Dependent Dvl2 Degradation

Sun-Ok Kim, Kyoung Sang Cho, Bo Yeon Kim, Kyung Ho Lee

Int J Mol Sci. 2021 Jul; 22(14): 7572. Published online 2021 Jul 15. doi: 10.3390/ijms22147572

PMCID:: PMC8307194

Abstract Article PDF–2.8M

Select item 809942814.

Structural determinants of voltage-gating properties in calcium channels

Monica L Fernández-Quintero, Yousra El Ghaleb, Petronel Tuluc, Marta Campiglio, Klaus R Liedl, Bernhard E Flucher

eLife. 2021; 10: e64087. Published online 2021 Mar 30. doi: 10.7554/eLife.64087

PMCID:: PMC8099428

Abstract Article PDF–5.0M

Select item 743102715.

CACNA1S haploinsufficiency confers resistance to New World arenavirus infection

Nicolás Sarute, Susan R. Ross

Proc Natl Acad Sci U S A. 2020 Aug 11; 117(32): 19497–19506. Published online 2020 Jul 27. doi: 10.1073/pnas.1920551117

PMCID:: PMC7431027

Abstract Article PDF–1.0M

Select item 719645716.

The expanding phenotype of hypokalemic periodic paralysis in a Japanese family with p.Val876Glu mutation in CACNA1S

Mari Kurokawa, Michiko Torio, Kazuhiro Ohkubo, Vlad Tocan, Noriko Ohyama, Naoko Toda, Kanako Ishii, Kei Nishiyama, Yuichi Mushimoto, Ryuichi Sakamoto, Maki Nakaza, Riho Horie, Tomoya Kubota, Masanori P. Takahashi, Yasunari Sakai, Masatoshi Nomura, Shouichi Ohga

Mol Genet Genomic Med. 2020 Apr; 8(4): e1175. Published online 2020 Feb 27. doi: 10.1002/mgg3.1175

PMCID:: PMC7196457

Abstract Article PDF–427K

Select item 716998317.

A reference map of the human binary protein interactome

Katja Luck, Dae-Kyum Kim, Luke Lambourne, Kerstin Spirohn, Bridget E. Begg, Wenting Bian, Ruth Brignall, Tiziana Cafarelli, Francisco J. Campos-Laborie, Benoit Charloteaux, Dongsic Choi, Atina G. Coté, Meaghan Daley, Steven Deimling, Alice Desbuleux, Amélie Dricot, Marinella Gebbia, Madeleine F. Hardy, Nishka Kishore, Jennifer J. Knapp, István A. Kovács, Irma Lemmens, Miles W. Mee, Joseph C. Mellor, Carl Pollis, Carles Pons, Aaron D. Richardson, Sadie Schlabach, Bridget Teeking, Anupama Yadav, Mariana Babor, Dawit Balcha, Omer Basha, Christian Bowman-Colin, Suet-Feung Chin, Soon Gang Choi, Claudia Colabella, Georges Coppin, Cassandra D’Amata, David De Ridder, Steffi De Rouck, Miquel Duran-Frigola, Hanane Ennajdaoui, Florian Goebels, Liana Goehring, Anjali Gopal, Ghazal Haddad, Elodie Hatchi, Mohamed Helmy, Yves Jacob, Yoseph Kassa, Serena Landini, Roujia Li, Natascha van Lieshout, Andrew MacWilliams, Dylan Markey, Joseph N. Paulson, Sudharshan Rangarajan, John Rasla, Ashyad Rayhan, Thomas Rolland, Adriana San-Miguel, Yun Shen, Dayag Sheykhkarimli, Gloria M. Sheynkman, Eyal Simonovsky, Murat Taşan, Alexander Tejeda, Vincent Tropepe, Jean-Claude Twizere, Yang Wang, Robert J. Weatheritt, Jochen Weile, Yu Xia, Xinping Yang, Esti Yeger-Lotem, Quan Zhong, Patrick Aloy, Gary D. Bader, Javier De Las Rivas, Suzanne Gaudet, Tong Hao, Janusz Rak, Jan Tavernier, David E. Hill, Marc Vidal, Frederick P. Roth, Michael A. Calderwood

Nature. Author manuscript; available in PMC 2020 Oct 8.

Published in final edited form as: Nature. 2020 Apr; 580(7803): 402–408. Published online 2020 Apr 8. doi: 10.1038/s41586-020-2188-x

PMCID:: PMC7169983

Abstract Article PDF–5.4M

Select item 700893618.

PharmGKB summary: very important pharmacogene information for CACNA1S

Katrin Sangkuhl, Robert T. Dirksen, Maria L. Alvarellos, Russ B. Altman, Teri E. Klein

Pharmacogenet Genomics. Author manuscript; available in PMC 2021 Feb 1.

Published in final edited form as: Pharmacogenet Genomics. 2020 Feb; 30(2): 34–44. doi: 10.1097/FPC.0000000000000393

PMCID:: PMC7008936

Abstract Article PDF–379K

Select item 700676719.

Bayesian modeling to predict malignant hyperthermia susceptibility and pathogenicity of RYR1, CACNA1S and STAC3 variants

Senthilkumar Sadhasivam, Barbara W Brandom, Richard A Henker, John J McAuliffe

Pharmacogenomics. 2019 Sep; 20(14): 989–1003. Published online 2019 Sep 27. doi: 10.2217/pgs-2019-0055

PMCID:: PMC7006767

Abstract Article PDF–491K

Select item 679337220.

Gating of the L-Type Ca Channel in Human Skeletal Myotubes: An Activation Defect Caused by the Hypokalemic Periodic Paralysis Mutation R528H

James A. Morrill, Robert H. Brown, Jr, Stephen C. Cannon

J Neurosci. 1998 Dec 15; 18(24): 10320–10334. doi: 10.1523/JNEUROSCI.18-24-10320.1998

PMCID:: PMC6793372

Abstract Article PDF–234K

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