Role of a conserved glutamine in the function of voltage-gated Ca2+ channels revealed by a mutation in human CACNA1D-Reference-Cited by-同舟云学术

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Role of a conserved glutamine in the function of voltage-gated Ca2+ channels revealed by a mutation in human CACNA1D

Published:2018-09 Issue:37 Volume:293 Page:14444-14454
ISSN:0021-9258
Container-title:Journal of Biological Chemistry
language:en
Short-container-title:Journal of Biological Chemistry

Author:

Garza-Lopez Edgar,Lopez Josue A.,Hagen Jussara,Sheffer Ruth,Meiner Vardiella,Lee Amy

Funder

HHS | NIH | National Institute on Deafness and Other Communication Disorders (NIDCD)

HHS | NIH | National Institute of Neurological Disorders and Stroke (NINDS)

Publisher

Elsevier BV

Subject

Cell Biology,Molecular Biology,Biochemistry

Reference53 articles.

1. Ion channel diseases;Hübner;Hum. Mol. Genet,2002

2. Long QT syndrome, Brugada syndrome, and conduction system disease are linked to a single sodium channel mutation;Grant;J. Clin. Invest,2002

3. A novel mutation L619F in the cardiac Na+ channel SCN5A associated with long-QT syndrome (LQT3): A role for the I–II linker in inactivation gating;Wehrens;Hum. Mutat,2003

4. C-terminal modulator controls Ca2+-dependent gating of Cav1.4 L-type Ca2+ channels;Singh;Nat. Neurosci,2006

5. CaV2.1 channelopathies;Pietrobon;Pflugers Arch,2010

Cited by 13 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. Patient-specific induced pluripotent stem cell properties implicate Ca ²⁺ -homeostasis in clinical arrhythmia associated with combined heterozygous RYR2 and SCN10A variants;Philosophical Transactions of the Royal Society B: Biological Sciences;2023-05

2. CACNA1D-Related Channelopathies: From Hypertension to Autism;Voltage-gated Ca2+ Channels: Pharmacology, Modulation and their Role in Human Disease;2023

3. Whole Exome Sequencing Identifies a Heterozygous Variant in the Cav1.3 Gene CACNA1D Associated with Familial Sinus Node Dysfunction and Focal Idiopathic Epilepsy;International Journal of Molecular Sciences;2022-11-17

4. Calcium channelopathies and intellectual disability: a systematic review;Orphanet Journal of Rare Diseases;2021-05-13

5. A Review of Genetic and Physiological Disease Mechanisms Associated With Cav1 Channels: Implications for Incomplete Congenital Stationary Night Blindness Treatment;Frontiers in Genetics;2021-01-28

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