Rare CACNA1A mutations leading to congenital ataxia-Reference-Cited by-同舟云学术

Rare CACNA1A mutations leading to congenital ataxia

Published:2020-05-26 Issue:7 Volume:472 Page:791-809
ISSN:0031-6768
Container-title:Pflügers Archiv - European Journal of Physiology
language:en
Short-container-title:Pflugers Arch - Eur J Physiol

Author:

Izquierdo-Serra Mercè,Fernández-Fernández José M.^ORCID,Serrano Mercedes^ORCID

Funder

Spanish Ministry of Science and Innovation, the State Research Agency (AEI, Agencia Estatal de Investigación), and FEDER Funds

Generalitat de Catalunya

National R&D&I Plan, cofinanced by the Instituto de Salud Carlos III (Subdirectorate-General for Evaluation and Promotion of Health Research) and European Regional Development Fund

Spanish Ministry of Science and Innovation.

Publisher

Springer Science and Business Media LLC

Subject

Physiology (medical),Clinical Biochemistry,Physiology

Link

https://link.springer.com/content/pdf/10.1007/s00424-020-02396-z.pdf

Reference147 articles.

1. Aggarwal SK, MacKinnon R (1996) Contribution of the S4 segment to gating charge in the Shaker K+ channel. Neuron 16:1169–1177. https://doi.org/10.1016/S0896-6273(00)80143-9

2. Ando H, Hirose M, Mikoshiba K (2018) Aberrant IP3 receptor activities revealed by comprehensive analysis of pathological mutations causing spinocerebellar ataxia 29. Proc Natl Acad Sci U S A 115:12259–12264. https://doi.org/10.1073/pnas.1811129115

3. Aspatwar A, Tolvanen MEE, Jokitalo E, Parikka M, Ortutay C, Harjula S-KE, Rämet M, Vihinen M, Parkkila S (2013) Abnormal cerebellar development and ataxia in CARP VIII morphant zebrafish. Hum Mol Genet 22:417–432. https://doi.org/10.1093/hmg/dds438

4. Bahamonde MI, Serra SA, Drechsel O, Rahman R, Marcé-Grau A, Prieto M, Ossowski S, Macaya A, Fernández-Fernández JM (2015) A Single amino acid deletion (ΔF1502) in the S6 segment of CaV2.1 domain III associated with congenital ataxia increases channel activity and promotes Ca2+ influx. PLoS One 10:e0146035. https://doi.org/10.1371/journal.pone.0146035

5. Barresi S, Niceta M, Alfieri P, Brankovic V, Piccini G, Bruselles A, Barone MR, Cusmai R, Tartaglia M, Bertini E, Zanni G (2017) Mutations in the IRBIT domain of ITPR1 are a frequent cause of autosomal dominant nonprogressive congenital ataxia. Clin Genet 91:86–91. https://doi.org/10.1111/cge.12783

Cited by 22 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Voltage-gated Calcium Channels as Potential Therapeutic Targets in Migraine;The Journal of Pain;2024-08

2. Genetic Causes of early onset Ataxia: Experience from the National Sheffield Paediatric Ataxia Centre;2024-07-03

3. Clinical and Genetic Characterization of a Cohort of Brazilian Patients With Congenital Ataxia;Neurology Genetics;2024-06

4. A Review of the CACNA Gene Family: Its Role in Neurological Disorders;Diseases;2024-05-05

5. Developing a pathway to clinical trials for CACNA1A-related epilepsies: A patient organization perspective;Therapeutic Advances in Rare Disease;2024-01