When calcium goes wrong: genetic alterations of a ubiquitous signaling route (Q35140775)

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scientific article

Language	Label	Description	Also known as
English	When calcium goes wrong: genetic alterations of a ubiquitous signaling route	scientific article

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scholarly article

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Europe PubMed Central

PubMed publication ID

6 August 2017

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Europe PubMed Central

When calcium goes wrong: genetic alterations of a ubiquitous signaling route (English)

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Europe PubMed Central

PubMed publication ID

6 August 2017

Rosario Rizzuto

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Rosario Rizzuto

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author name string

Tullio Pozzan

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Europe PubMed Central

PubMed publication ID

6 August 2017

language of work or name

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publication date

1 June 2003

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Europe PubMed Central

PubMed publication ID

6 August 2017

Nature Genetics

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Europe PubMed Central

PubMed publication ID

6 August 2017

34

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Europe PubMed Central

PubMed publication ID

6 August 2017

2

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Europe PubMed Central

PubMed publication ID

6 August 2017

135-141

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Europe PubMed Central

PubMed publication ID

6 August 2017

The versatility and universality of calcium signalling

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Molecular and cellular physiology of intracellular calcium stores

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Sorting out MIC, TRP, and CRAC ion channels.

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The Golgi apparatus is an inositol 1,4,5-trisphosphate-sensitive Ca2+ store, with functional properties distinct from those of the endoplasmic reticulum

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A new phospholipase-C-calcium signalling pathway mediated by cyclic AMP and a Rap GTPase

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Presenilin-mediated modulation of capacitative calcium entry

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Capacitative calcium entry deficits and elevated luminal calcium content in mutant presenilin-1 knockin mice

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Reduced loading of intracellular Ca(2+) stores and downregulation of capacitative Ca(2+) influx in Bcl-2-overexpressing cells.

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Close contacts with the endoplasmic reticulum as determinants of mitochondrial Ca2+ responses

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Regulation of mitochondrial ATP synthesis by calcium: evidence for a long-term metabolic priming

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The Ca2+ concentration of the endoplasmic reticulum is a key determinant of ceramide-induced apoptosis: significance for the molecular mechanism of Bcl-2 action

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Early mitochondrial calcium defects in Huntington's disease are a direct effect of polyglutamines.

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A calcium signaling defect in the pathogenesis of a mitochondrial DNA inherited oxidative phosphorylation deficiency

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The role of Ca2+ ions in excitation-contraction coupling of skeletal muscle fibres

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Ryanodine receptors of striated muscles: a complex channel capable of multiple interactions

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Malignant hyperthermia

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A mutation in the human ryanodine receptor gene associated with central core disease

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Detection of a novel mutation at amino acid position 614 in the ryanodine receptor in malignant hyperthermia.

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Identification of a Mutation in Porcine Ryanodine Receptor Associated with Malignant Hyperthermia

1 reference

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Malignant hyperthermia: excitation-contraction coupling, Ca2+ release channel, and cell Ca2+ regulation defects

1 reference

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7 January 2021

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Malignant hyperthermia and central core disease: disorders of Ca2+ release channels

1 reference

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7 January 2021

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Malignant-hyperthermia susceptibility is associated with a mutation of the alpha 1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle

1 reference

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7 January 2021

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Altered ryanodine receptor function in central core disease: leaky or uncoupled Ca(2+) release channels?

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7 January 2021

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Ca2+ signalling and muscle disease

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Increased protein degradation results from elevated free calcium levels found in muscle from mdx mice

1 reference

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7 January 2021

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Alteration in calcium handling at the subcellular level in mdx myotubes.

1 reference

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A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca2+ release channel function and severe central core disease

1 reference

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Excitation--contraction uncoupling by a human central core disease mutation in the ryanodine receptor

1 reference

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Hypokalaemic periodic paralysis type 2 caused by mutations at codon 672 in the muscle sodium channel gene SCN4A.

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A mutation in the KCNE3 potassium channel gene is associated with susceptibility to thyrotoxic hypokalemic periodic paralysis

1 reference

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Hypokalemic periodic paralysis associated with malignant hyperthermia

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Muscle contracture induced by exercise. A syndrome attributable to decreased relaxing factor

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Myopathy caused by a deficiency of Ca2+-adenosine triphosphatase in sarcoplasmic reticulum (Brody's disease)

1 reference

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Mutations in the gene-encoding SERCA1, the fast-twitch skeletal muscle sarcoplasmic reticulum Ca2+ ATPase, are associated with Brody disease

1 reference

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The mutation of Pro789 to Leu reduces the activity of the fast-twitch skeletal muscle sarco(endo)plasmic reticulum Ca2+ ATPase (SERCA1) and is associated with Brody disease

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Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2)

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Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia

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The binding of the RyR2 calcium channel to its gating protein FKBP12.6 is oppositely affected by ARVD2 and VTSIP mutations

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PKA phosphorylation dissociates FKBP12.6 from the calcium release channel (ryanodine receptor): defective regulation in failing hearts

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Differential nociceptive responses in mice lacking the alpha(1B) subunit of N-type Ca(2+) channels

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Early-onset epilepsy and postnatal lethality associated with an editing-deficient GluR-B allele in mice

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Neurodegeneration in Lurcher mice caused by mutation in delta2 glutamate receptor gene

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An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness

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Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness

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Calcium channels and channelopathies of the central nervous system

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

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Structure and regulation of voltage-gated Ca2+ channels

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Familial hemiplegic migraine mutations increase Ca(2+) influx through single human CaV2.1 channels and decrease maximal CaV2.1 current density in neurons

1 reference

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Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel

1 reference

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Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by patients with episodic ataxia type 2

1 reference

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Functional consequences of P/Q-type Ca2+ channel Cav2.1 missense mutations associated with episodic ataxia type 2 and progressive ataxia

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The spinocerebellar ataxias: order emerges from chaos

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Spinocerebellar ataxia type 6 mutation alters P-type calcium channel function

1 reference

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Increased expression of alpha 1A Ca2+ channel currents arising from expanded trinucleotide repeats in spinocerebellar ataxia type 6.

1 reference

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Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease

1 reference

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Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease

1 reference

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7 January 2021

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Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca(2+) pump

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Ca(2+)-ATPase function is required for intracellular trafficking of the Notch receptor in Drosophila

1 reference

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Calcium-pump inhibitors induce functional surface expression of Delta F508-CFTR protein in cystic fibrosis epithelial cells

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Calreticulin is essential for cardiac development

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Signals transduced by Ca(2+)/calcineurin and NFATc3/c4 pattern the developing vasculature

1 reference

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Polycystin-2 is an intracellular calcium release channel

1 reference

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Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemia

1 reference

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7 January 2021

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Hypomagnesemia with secondary hypocalcemia is caused by mutations in TRPM6, a new member of the TRPM gene family

1 reference

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7 January 2021

based on heuristic

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Facilitation of NMDAR-independent LTP and spatial learning in mutant mice lacking ryanodine receptor type 3.

1 reference

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7 January 2021

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Deletion of the ryanodine receptor type 3 (RyR3) impairs forms of synaptic plasticity and spatial learning

1 reference

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Nomenclature of voltage-gated calcium channels

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7 January 2021

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Identifiers

10.1038/NG0603-135

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

ResearchGate publication ID

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