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Items: 1 to 20 of 95

1.
Natural history of non-polyglutamine CACNA1A disease in Austria
Elisabetta Indelicato, Wolfgang Nachbauer, Matthias S. Amprosi, Sarah Maier, Iris Unterberger, Margarete Delazer, Katharina Kaltseis, Stefan Kiechl, Gregor Broessner, Matthias Baumann, Sylvia Boesch
J Neurol. 2024; 271(10): 6618–6627. Published online 2024 Aug 7. doi: 10.1007/s00415-024-12602-y
PMCID:
PMC11446988
AbstractArticlePDF–1.0M
2.
Identification of motif-based interactions between SARS-CoV-2 protein domains and human peptide ligands pinpoint antiviral targets
Filip Mihalič, Caroline Benz, Eszter Kassa, Richard Lindqvist, Leandro Simonetti, Raviteja Inturi, Hanna Aronsson, Eva Andersson, Celestine N. Chi, Norman E. Davey, Anna K. Överby, Per Jemth, Ylva Ivarsson
Nat Commun. 2023; 14: 5636. Published online 2023 Sep 13. doi: 10.1038/s41467-023-41312-8
PMCID:
PMC10499821
AbstractArticlePDF–2.6M
3.
High-Throughput Sequencing Data Reveal an Antiangiogenic Role of HNF4A-Mediated CACNA1A/VEGFA Axis in Proliferative Diabetic Retinopathy
Yuan Yin, Shuai Wu, Lingzhi Niu, Shiwei Huang
Invest Ophthalmol Vis Sci. 2023 Jun; 64(7): 32. Published online 2023 Jun 21. doi: 10.1167/iovs.64.7.32
PMCID:
PMC10289276
AbstractArticlePDF–3.4M
4.
Clinical and genetic characterization of CACNA1A-related disease
Amy R. Lipman, Xiao Fan, Yufeng Shen, Wendy K. Chung
Clin Genet. Author manuscript; available in PMC 2023 Oct 1.
Published in final edited form as: Clin Genet. 2022 Oct; 102(4): 288–295. Published online 2022 Jun 26. doi: 10.1111/cge.14180
PMCID:
PMC9458680
AbstractArticlePDF–703K
5.
A Selectivity Filter Gate Controls Voltage-Gated Calcium Channel Calcium-Dependent Inactivation
Fayal Abderemane-Ali, Felix Findeisen, Nathan D. Rossen, Daniel L. Minor, Jr.
Neuron. Author manuscript; available in PMC 2022 Feb 25.
Published in final edited form as: Neuron. 2019 Mar 20; 101(6): 1134–1149.e3. Published online 2019 Feb 4. doi: 10.1016/j.neuron.2019.01.011
PMCID:
PMC8878153
AbstractArticlePDF–2.0M
6.
Next-generation sequencing identified a novel CACNA1A I1379F variant in a familial hemiplegic migraine type 1 pedigree: A case report
Huiyan Luan, Lei Zhang, Sijin Zhang, Meng Zhang
Medicine (Baltimore) 2021 Dec 23; 100(51): e28141. Published online 2021 Dec 23. doi: 10.1097/MD.0000000000028141
PMCID:
PMC8702007
AbstractArticlePDF–309K
7.
Clinical and molecular spectrum of P/Q type calcium channel Cav2.1 in epileptic patients
Elham Alehabib, Zahra Esmaeilizadeh, Sakineh Ranji-Burachaloo, Abbas Tafakhori, Hossein Darvish, Abolfazl Movafagh
Orphanet J Rare Dis. 2021; 16: 461. Published online 2021 Nov 2. doi: 10.1186/s13023-021-02101-y
PMCID:
PMC8562004
AbstractArticlePDF–1.4M
8.
Biallelic variants in genes previously associated with dominant inheritance: CACNA1A, RET and SLC20A2
A. Arteche-López, MI. Álvarez-Mora, MT. Sánchez Calvin, JM. Lezana Rosales, C. Palma Milla, M. J. Gómez Rodríguez, I. Gomez Manjón, A. Blázquez, A. Juarez Rufián, P. Ramos Gómez, O. Sierra Tomillo, I. Hidalgo Mayoral, R. Pérez de la Fuente, IJ. Posada Rodríguez, LI. González Granado, Miguel A. Martin, JF. Quesada-Espinosa, M. Moreno-García
Eur J Hum Genet. 2021 Oct; 29(10): 1520–1526. Published online 2021 Jul 15. doi: 10.1038/s41431-021-00919-5
PMCID:
PMC8484357
AbstractArticlePDF–708K
9.
Potential Novel Genes for Late-Onset Alzheimer’s Disease in East-Asian Descent Identified by APOE-Stratified Genome-Wide Association Study
Sarang Kang, Jungsoo Gim, Jiwoon Lee, Tamil Iniyan Gunasekaran, Kyu Yeong Choi, Jang Jae Lee, Eun Hyun Seo, Pan-Woo Ko, Ji Yeon Chung, Seong-Min Choi, Young Min Lee, Jee Hyang Jeong, Kyung Won Park, Min Kyung Song, Ho-Won Lee, Ki Woong Kim, Seong Hye Choi, Dong Young Lee, Sang Yun Kim, Hoowon Kim, Byeong C. Kim, Takeshi Ikeuchi, Kun Ho Lee
J Alzheimers Dis. 2021; 82(4): 1451–1460. Prepublished online 2021 Jun 18. Published online 2021 Aug 17. doi: 10.3233/JAD-210145
PMCID:
PMC8461686
AbstractArticlePDF–396K
10.
CACNA1A-p.Thr501Met mutation associated with familial hemiplegic migraine: a family report
Marina Romozzi, Guido Primiano, Eleonora Rollo, Lorena Travaglini, Paolo Calabresi, Serenella Servidei, Catello Vollono
J Headache Pain. 2021; 22(1): 85. Published online 2021 Jul 28. doi: 10.1186/s10194-021-01297-5
PMCID:
PMC8317284
AbstractArticlePDF–855K
11.
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
12.
CACNA1A Mutations Causing Early Onset Ataxia: Profiling Clinical, Dysmorphic and Structural-Functional Findings
Antonio F. Martínez-Monseny, Albert Edo, Dídac Casas-Alba, Mercè Izquierdo-Serra, Mercè Bolasell, David Conejo, Loreto Martorell, Jordi Muchart, Laura Carrera, Carlos I. Ortez, Andrés Nascimento, Baldo Oliva, José M. Fernández-Fernández, Mercedes Serrano
Int J Mol Sci. 2021 May; 22(10): 5180. Published online 2021 May 13. doi: 10.3390/ijms22105180
PMCID:
PMC8153625
AbstractArticlePDF–2.1M
13.
Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystonia
Niccolò E. Mencacci, Marisa M. Brockmann, Jinye Dai, Sander Pajusalu, Burcu Atasu, Joaquin Campos, Gabriela Pino, Paulina Gonzalez-Latapi, Christopher Patzke, Michael Schwake, Arianna Tucci, Alan Pittman, Javier Simon-Sanchez, Gemma L. Carvill, Bettina Balint, Sarah Wiethoff, Thomas T. Warner, Apostolos Papandreou, Audrey Soo, Reet Rein, Liis Kadastik-Eerme, Sanna Puusepp, Karit Reinson, Tiiu Tomberg, Hasmet Hanagasi, Thomas Gasser, Kailash P. Bhatia, Manju A. Kurian, Ebba Lohmann, Katrin Õunap, Christian Rosenmund, Thomas C. Südhof, Nicholas W. Wood, Dimitri Krainc, Claudio Acuna
J Clin Invest. 2021 Apr 1; 131(7): e140625. Published online 2021 Apr 1. doi: 10.1172/JCI140625
PMCID:
PMC8011894
AbstractArticlePDF–8.0M
14.
The de novo CACNA1A pathogenic variant Y1384C associated with hemiplegic migraine, early onset cerebellar atrophy and developmental delay leads to a loss of Cav2.1 channel function
Maria A. Gandini, Ivana A. Souza, Laurent Ferron, A. Micheil Innes, Gerald W. Zamponi
Mol Brain. 2021; 14: 27. Published online 2021 Feb 8. doi: 10.1186/s13041-021-00745-2
PMCID:
PMC7871581
AbstractArticlePDF–2.4M
15.
Adrenergic CaV1.2 Activation via Rad Phosphorylation Converges at α1C I-II Loop
Arianne Papa, Jared Kushner, Jessica A. Hennessey, Alexander N. Katchman, Sergey I. Zakharov, Bi-xing Chen, Lin Yang, Ree Lu, Stephen Leong, Johanna Diaz, Guoxia Liu, Daniel Roybal, Xianghai Liao, Pedro J. del Rivero Morfin, Henry M. Colecraft, Geoffrey S. Pitt, Oliver Clarke, Veli Topkara, Manu Ben-Johny, Steven O. Marx
Circ Res. Author manuscript; available in PMC 2022 Jan 8.
Published in final edited form as: Circ Res. 2021 Jan 8; 128(1): 76–88. Published online 2020 Oct 22. doi: 10.1161/CIRCRESAHA.120.317839
PMCID:
PMC7790865
AbstractArticlePDF–2.1M
16.
A CACNA1A variant associated with trigeminal neuralgia alters the gating of Cav2.1 channels
Eder Gambeta, Maria A. Gandini, Ivana A. Souza, Laurent Ferron, Gerald W. Zamponi
Mol Brain. 2021; 14: 4. Published online 2021 Jan 7. doi: 10.1186/s13041-020-00725-y
PMCID:
PMC7789175
AbstractArticlePDF–1.6M
17.
A novel pathogenic CACNA1A variant causing episodic ataxia type 2 (EA2) spectrum phenotype in four family members and a novel combined therapy
Josef Penkava, S. Ledderose, S. Chahrokh-Zadeh, A. Munzig, zu Eulenburg, D. Huppert, M. Strupp, S. Becker-Bense
J Neurol. 2020; 267(Suppl 1): 181–184. Published online 2020 Sep 10. doi: 10.1007/s00415-020-10190-1
PMCID:
PMC7718184
ArticlePDF–511K
18.
Higher burden of rare frameshift indels in genes related to synaptic transmission separate familial hemiplegic migraine from common types of migraine
Andreas Hoiberg Rasmussen, Isa Olofsson, Mona Ameri Chalmer, Jes Olesen, Thomas Folkmann Hansen
J Med Genet. 2020 Sep; 57(9): 610–616. Published online 2020 Jan 24. doi: 10.1136/jmedgenet-2019-106640
PMCID:
PMC7476275
AbstractArticlePDF–1.3M
19.
Association of A Novel Splice Site Mutation in P/Q-Type Calcium Channels with Childhood Epilepsy and Late-Onset Slowly Progressive Non-Episodic Cerebellar Ataxia
Claudia Stendel, Maria Cristina D’Adamo, Manuela Wiessner, Marina Dusl, Marta Cenciarini, Silvia Belia, Ehsan Nematian-Ardestani, Peter Bauer, Jan Senderek, Thomas Klopstock, Mauro Pessia
Int J Mol Sci. 2020 Jun; 21(11): 3810. Published online 2020 May 27. doi: 10.3390/ijms21113810
PMCID:
PMC7312673
AbstractArticlePDF–2.4M
20.
An elongated tract of polyQ in the carboxyl-terminus of human α1A calcium channel induces cell apoptosis by nuclear translocation
Ji Sun, Xiguang Sun, Zhuo Li, Dihui Ma, Yudan Lv
Oncol Rep. 2020 Jul; 44(1): 156–164. Published online 2020 Apr 22. doi: 10.3892/or.2020.7592
PMCID:
PMC7251683
AbstractArticlePDF–1.1M

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