Disease-causing mutations of calcium channels

No abstract is available for this paper.

• Publication year

  2008

• Venue

  Channels

• Publication date

  2008-05-21

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.4161/chan.2.3.5950PMID 18836296
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• The neurobiology of migraine.

  2010cited by this paper
• Loss-of-Function Mutations in the Cardiac Calcium Channel Underlie a New Clinical Entity Characterized by ST-Segment Elevation, Short QT Intervals, and Sudden Cardiac Death

  2007cited by this paper
• The genetic spectrum of a population-based sample of familial hemiplegic migraine.

  2007cited by this paper
• Properties of human Cav2.1 channel with a spinocerebellar ataxia type 6 mutation expressed in Purkinje cells.

  2007cited by this paper
• Rod bipolar cells and horizontal cells form displaced synaptic contacts with rods in the outer nuclear layer of the nob2 retina

  2007cited by this paper
• Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies.

  2007cited by this paper
• Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variants

  2007cited by this paper
• Localization of an NH2-terminal Disease-causing Mutation Hot Spot to the “Clamp” Region in the Three-dimensional Structure of the Cardiac Ryanodine Receptor*

  2007cited by this paper
• An Ryr1I4895T mutation abolishes Ca2+ release channel function and delays development in homozygous offspring of a mutant mouse line

  2007cited by this paper
• The I–II Loop Controls Plasma Membrane Expression and Gating of Cav3.2 T-Type Ca2+ Channels: A Paradigm for Childhood Absence Epilepsy Mutations

  2007cited by this paper
• A mechanism for sudden infant death syndrome (SIDS): stress-induced leak via ryanodine receptors.

  2007cited by this paper
• Catecholaminergic Polymorphic Ventricular Tachycardia

  2007cited by this paper
• Functional analysis of congenital stationary night blindness type-2 CACNA1F mutations F742C, G1007R, and R1049W.

  2007cited by this paper
• Functional Analysis of Cav3.2 T‐type Calcium Channel Mutations Linked to Childhood Absence Epilepsy

  2006cited by this paper
• Functional analysis of Ca3.2 T-type calcium channel mutations linked to childhood absence epilepsy.

  2006cited by this paper
• Distinct U wave changes in patients with catecholaminergic polymorphic ventricular tachycardia (CPVT).

  2006cited by this paper
• Voltage-gated calcium channels and idiopathic generalized epilepsies.

  2006cited by this paper
• C-terminal modulator controls Ca2+-dependent gating of Cav1.4 L-type Ca2+ channels

  2006cited by this paper
• Pharmacologic and Functional Characterization of Malignant Hyperthermia in the R163C RyR1 Knock-in Mouse

  2006cited by this paper
• Effects of congenital stationary night blindness type 2 mutations R508Q and L1364H on Cav1.4 L‐type Ca2+ channel function and expression

  2006cited by this paper
• Arrhythmogenesis in catecholaminergic polymorphic ventricular tachycardia: insights from a RyR2 R4496C knock-in mouse model.

  2006cited by this paper
• Cyclosporin and Timothy syndrome increase mode 2 gating of CaV1.2 calcium channels through aberrant phosphorylation of S6 helices.

  2006cited by this paper
• Mice with the R176Q cardiac ryanodine receptor mutation exhibit catecholamine-induced ventricular tachycardia and cardiomyopathy

  2006cited by this paper
• The nob2 mouse, a null mutation in Cacna1f: Anatomical and functional abnormalities in the outer retina and their consequences on ganglion cell visual responses

  2006cited by this paper
• Central core disease is due to RYR1 mutations in more than 90% of patients.

  2006cited by this paper
• Heat‐ and anesthesia‐induced malignant hyperthermia in an RyR1 knock‐in mouse

  2006cited by this paper
• A profile of alternative RNA splicing and transcript variation of CACNA1H, a human T-channel gene candidate for idiopathic generalized epilepsies.

  2006cited by this paper
• Localization of a Disease-associated Mutation Site in the Three-dimensional Structure of the Cardiac Muscle Ryanodine Receptor*

  2005cited by this paper
• Spectrum and prevalence of cardiac ryanodine receptor (RyR2) mutations in a cohort of unrelated patients referred explicitly for long QT syndrome genetic testing.

  2005cited by this paper
• Clinical manifestations of a unique X‐linked retinal disorder in a large New Zealand family with a novel mutation in CACNA1F, the gene responsible for CSNB2

  2005cited by this paper
• Expression and functional characterization of the cardiac L-type calcium channel carrying a skeletal muscle DHP-receptor mutation causing hypokalaemic periodic paralysis

  2005cited by this paper
• Effects of Cav3.2 channel mutations linked to idiopathic generalized epilepsy

  2005cited by this paper
• Specific Kinetic Alterations of Human CaV2.1 Calcium Channels Produced by Mutation S218L Causing Familial Hemiplegic Migraine and Delayed Cerebral Edema and Coma after Minor Head Trauma*

  2005cited by this paper
• Congenital Stationary Night Blindness Type 2 Mutations S229P, G369D, L1068P, and W1440X Alter Channel Gating or Functional Expression of Cav1.4 L-type Ca2+ Channels

  2005cited by this paper
• Catecholaminergic polymorphic ventricular tachycardia: RYR2 mutations, bradycardia, and follow up of the patients

  2005cited by this paper
• Gating Deficiency in a Familial Hemiplegic Migraine Type 1 Mutant P/Q-type Calcium Channel*[boxs]

  2005cited by this paper
• CACNA1A mutations causing episodic and progressive ataxia alter channel trafficking and kinetics

  2005cited by this paper
• Functional Characterization and Neuronal Modeling of the Effects of Childhood Absence Epilepsy Variants of CACNA1H, a T-Type Calcium Channel

  2005cited by this paper
• A CACNA1F mutation identified in an X-linked retinal disorder shifts the voltage dependence of Cav1.4 channel activation.

  2005cited by this paper
• Dysfunction of the brain calcium channel CaV2.1 in absence epilepsy and episodic ataxia.

  2005cited by this paper
• Juvenile sudden death in a family with polymorphic ventricular arrhythmias caused by a novel RyR2 gene mutation: evidence of specific morphological substrates.

  2005cited by this paper
• Mutation of the calcium channel gene Cacna1f disrupts calcium signaling, synaptic transmission and cellular organization in mouse retina.

  2005cited by this paper
• A novel mutation in FKBP12.6 binding region of the human cardiac ryanodine receptor gene (R2401H) in a Japanese patient with catecholaminergic polymorphic ventricular tachycardia.

  2005cited by this paper
• New calcium channel mutations predict aberrant RNA splicing in episodic ataxia

  2005cited by this paper
• Inaugural Article: Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations

  2005cited by this paper
• Sudden Death in Familial Polymorphic Ventricular Tachycardia Associated With Calcium Release Channel (Ryanodine Receptor) Leak

  2004cited by this paper
• Gating Effects of Mutations in the Cav3.2 T-type Calcium Channel Associated with Childhood Absence Epilepsy*

  2004cited by this paper
• Genetic variation of CACNA1H in idiopathic generalized epilepsy

  2004cited by this paper
• Familial Hemiplegic Migraine Type 1 Mutations K1336E, W1684R, and V1696I Alter Cav2.1 Ca2+ Channel Gating

  2004cited by this paper
• RYR1 mutations in UK central core disease patients: more than just the C-terminal transmembrane region of the RYR1 gene

  2004cited by this paper
• A Cacna1a knockin migraine mouse model with increased susceptibility to cortical spreading depression.

  2004cited by this paper
• Denaturing HPLC-based approach for detecting RYR2 mutations involved in malignant arrhythmias.

  2004cited by this paper
• Childhood epilepsy, familial hemiplegic migraine, cerebellar ataxia, and a new CACNA1A mutation

  2004cited by this paper
• Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism.

  2004cited by this paper
• The CACNA1F Gene Encodes an L-Type Calcium Channel with Unique Biophysical Properties and Tissue Distribution

  2004cited by this paper
• Catecholaminergic Polymorphic Ventricular Tachycardia, Recurrent Syncope, and Implantable Loop Recorder

  2004cited by this paper
• Association between genetic variation of CACNA1H and childhood absence epilepsy

  2003cited by this paper
• Molecular genetics of exercise-induced polymorphic ventricular tachycardia: identification of three novel cardiac ryanodine receptor mutations and two common calsequestrin 2 amino-acid polymorphisms

  2003cited by this paper
• Clinical and functional effects of a deletion in a COOH-terminal lumenal loop of the skeletal muscle ryanodine receptor.

  2003cited by this paper
• The Pore Region of the Skeletal Muscle Ryanodine Receptor Is a Primary Locus for Excitation-Contraction Uncoupling in Central Core Disease

  2003cited by this paper
• Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene.

  2003cited by this paper
• Molecular physiology of low-voltage-activated t-type calcium channels.

  2003cited by this paper
• Novel mutations in C-terminal channel region of the ryanodine receptor in malignant hyperthermia patients.

  2002cited by this paper
• Functional Consequences of P/Q-type Ca2+Channel Cav2.1 Missense Mutations Associated with Episodic Ataxia Type 2 and Progressive Ataxia*

  2002cited by this paper
• Clinical and Molecular Characterization of Patients With Catecholaminergic Polymorphic Ventricular Tachycardia

  2002cited by this paper
• Screening for ryanodine receptor type 2 mutations in families with effort-induced polymorphic ventricular arrhythmias and sudden death: early diagnosis of asymptomatic carriers.

  2002cited by this paper
• The Ducky Mutation in Cacna2d2 Results in Altered Purkinje Cell Morphology and Is Associated with the Expression of a Truncated α2δ-2 Protein with Abnormal Function*

  2002cited by this paper
• Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina

  2002cited by this paper
• Familial hemiplegic migraine mutations increase Ca2+ influx through single human CaV2.1 channels and decrease maximal CaV2.1 current density in neurons

  2002cited by this paper
• Malignant hyperthermia associated with exercise-induced rhabdomyolysis or congenital abnormalities and a novel RYR1 mutation in New Zealand and Australian pedigrees.

  2002cited by this paper
• Ducky Mouse Phenotype of Epilepsy and Ataxia Is Associated with Mutations in the Cacna2d2 Gene and Decreased Calcium Channel Current in Cerebellar Purkinje Cells

  2001cited by this paper
• Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by patients with episodic ataxia type 2.

  2001cited by this paper
• Delayed cerebral edema and fatal coma after minor head trauma: Role of the CACNA1A calcium channel subunit gene and relationship with familial hemiplegic migraine

  2001cited by this paper
• Mutations in the Cardiac Ryanodine Receptor Gene (hRyR2) Underlie Catecholaminergic Polymorphic Ventricular Tachycardia

  2001cited by this paper
• Mutations of the Cardiac Ryanodine Receptor (RyR2) Gene in Familial Polymorphic Ventricular Tachycardia

  2001cited by this paper
• Identification of two novel mutations in the CACNA1A gene responsible for episodic ataxia type 2

  2001cited by this paper
• Autosomal Dominant Canine Malignant Hyperthermia Is Caused by a Mutation in the Gene Encoding the Skeletal Muscle Calcium Release Channel (RYR1)

  2001cited by this paper
• Functional Effects of Central Core Disease Mutations in the Cytoplasmic Region of the Skeletal Muscle Ryanodine Receptor

  2001cited by this paper
• Single-amino-acid deletion in the RYR1 gene, associated with malignant hyperthermia susceptibility and unusual contraction phenotype.

  2001cited by this paper
• Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel.

  2001cited by this paper
• Excitation–contraction uncoupling by a human central core disease mutation in the ryanodine receptor

  2001cited by this paper
• Missense CACNA1A mutation causing episodic ataxia type 2.

  2001cited by this paper
• Biochemical and Biophysical Evidence for γ2 Subunit Association with Neuronal Voltage-activated Ca2+Channels*

  2001cited by this paper
• Novel CACNA1F mutations in Japanese patients with incomplete congenital stationary night blindness.

  2001cited by this paper
• Rocker Is a New Variant of the Voltage-Dependent Calcium Channel Gene Cacna1a

  2001cited by this paper
• North American Malignant Hyperthermia Population: Screening of the Ryanodine Receptor Gene and Identification of Novel Mutations

  2001cited by this paper
• Identification of a novel mutation in the ryanodine receptor gene (RYR1) in patients with malignant hyperthermia

  2001cited by this paper
• A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants

  2001cited by this paper
• Abnormal uptake and release of Ca2+ ions from human malignant hyperthermia-susceptible sarcoplasmic reticulum.

  2001cited by this paper
• Expression of tyrosine hydroxylase in cerebellar Purkinje cells of ataxic mutant mice: its relation to the onset and/or development of ataxia.

  2001cited by this paper
• Dystonia and cerebellar atrophy in Cacna1a null mice lacking P/Q calcium channel activity

  2001cited by this paper
• Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2).

  2001cited by this paper
• Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium homeostasis.

  2001cited by this paper
• Increased Expression of α1A Ca2+Channel Currents Arising from Expanded Trinucleotide Repeats in Spinocerebellar Ataxia Type 6

  2001cited by this paper
• Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor.

  2001cited by this paper
• The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel.

  2001cited by this paper
• Novel mutation in the RYR1 gene (R2454C) in a patient with malignant hyperthermia

  2000cited by this paper
• Identification of a novel mutation in the ryanodine receptor gene (RYR1) in a malignant hyperthermia Italian family

  2000cited by this paper
• Ca2+ signalling and muscle disease.

  2000cited by this paper
• Malignant hyperthermia mutation Arg615Cys in the porcine ryanodine receptor alters voltage dependence of Ca2+ release

  2000cited by this paper

• Mapping the interaction surface between CaVβ and actin and its role in calcium channel clearance

  2025cites this paper
• The significance of calcium ions in cerebral ischemia-reperfusion injury: mechanisms and intervention strategies

  2025cites this paper
• Probing domain interactions in a large multimeric protein: molecular dynamics and bioinformatic analysis of closed and open states of RyR1

  2025cites this paper
• MP Allosterically Activates AMPK to Enhance ABCA1 Stability by Retarding the Calpain-Mediated Degradation Pathway

  2023cites this paper
• Characterizing Genotypes and Phenotypes Associated with Dysfunction of Channel-Encoding Genes in a Cohort of Patients with Intellectual Disability

  2022cites this paper
• Protein nanoparticle-induced osmotic pressure gradients modify pulmonary edema through hyperpermeability in acute respiratory distress syndrome

  2022cites this paper
• Deciphering Molecular Mechanisms and Intervening in Physiological and Pathophysiological Processes of Ca2+ Signaling Mechanisms Using Optogenetic Tools

  2021cites this paper
• Rad Modulation of the L-type Calcium Channel Confers Systolic Advantage in the Heart

  2021cites this paper
• Altered Organelle Calcium Transport in Ovarian Physiology and Cancer

  2020cites this paper
• A mutation in CaV2.1 linked to a severe neurodevelopmental disorder impairs channel gating

  2019cites this paper
• Infantile-Onset Syndromic Cerebellar Ataxia and CACNA1G Mutations.

  2019cites this paper
• Transcriptional regulation of voltage‐gated Ca2+ channels

  2018cites this paper
• P/Q‐type and T‐type voltage‐gated calcium channels are involved in the contraction of mammary and brain blood vessels from hypertensive patients

  2017cites this paper
• New Role of P/Q-type Voltage-gated Calcium Channels: From Transmitter Release to Contraction of Renal Vasculature

  2015cites this paper
• Role of the calpain on the development of diabetes mellitus and its chronic complications.

  2015cites this paper
• Clinical Study The MFN 2 V 705 I Variant Is Not a Disease-CausingMutation : A Segregation Analysis in a CMT 2 Family

  2015cites this paper
• L-type CaV1.2 calcium channels: from in vitro findings to in vivo function.

  2014cites this paper
• Reviews of Physiology, Biochemistry and Pharmacology, Vol. 167

  2014cites this paper
• Protective effects of the sodium/calcium exchanger inhibitor on endothelial dysfunction induced by high glucose.

  2014cites this paper
• Cardiac functions of voltage-gated Ca(2+) channels: role of the pharmacoresistant type (E-/R-Type) in cardiac modulation and putative implication in sudden unexpected death in epilepsy (SUDEP).

  2014cites this paper
• Functional heterogeneity of the four voltage sensors of a human L-type calcium channel

  2014cites this paper
• Role of the Na(+)/Ca(2+) exchanger on the development of diabetes mellitus and its chronic complications.

  2012cites this paper
• Voltage-gated calcium channels and Parkinson's disease.

  2012cites this paper
• Detection of disease resistance and susceptibility alleles in pigs using oligonucleotide microarray hybridization

  2012cites this paper
• The association between prion proteins and Aβ₁₋₄₂ oligomers in cytotoxicity and apoptosis.

  2012cites this paper
• Muscle weakness in myotonic dystrophy associated with misregulated splicing and altered gating of Ca(V)1.1 calcium channel.

  2012cites this paper
• Ryanodine receptors

  2011cites this paper
• Endoplasmic-reticulum calcium depletion and disease.

  2011cites this paper
• Effects of IKAP/hELP1 Deficiency on Gene Expression in Differentiating Neuroblastoma Cells: Implications for Familial Dysautonomia

  2011cites this paper
• G protein modulation of CaV2 voltage-gated calcium channels.

  2010cites this paper
• G protein inhibition of CaV2 calcium channels

  2010cites this paper
• Comparative Structure and Function

  2010cites this paper
• Role of voltage-gated calcium channels in epilepsy

  2010cites this paper
• Functional properties and modulation of extracellular epitope - tagged CaV2.1 voltage-gated calcium channels

  2008cites this paper