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When calcium goes wrong: genetic alterations of a ubiquitous signaling route
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Europe PubMed Central
PubMed ID
12776115
retrieved
6 August 2017
review article
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Europe PubMed Central
title
When calcium goes wrong: genetic alterations of a ubiquitous signaling route
(English)
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Europe PubMed Central
PubMed ID
12776115
retrieved
6 August 2017
author
Rosario Rizzuto
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Rosario Rizzuto
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Tullio Pozzan
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Europe PubMed Central
PubMed ID
12776115
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6 August 2017
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English
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1 June 2003
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Europe PubMed Central
PubMed ID
12776115
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6 August 2017
published in
Nature Genetics
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Europe PubMed Central
PubMed ID
12776115
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6 August 2017
volume
34
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Europe PubMed Central
PubMed ID
12776115
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6 August 2017
issue
2
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Europe PubMed Central
PubMed ID
12776115
retrieved
6 August 2017
page(s)
135-141
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Europe PubMed Central
PubMed ID
12776115
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6 August 2017
exact match
https://scigraph.springernature.com/pub.10.1038/ng0603-135
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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
1 reference
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7 January 2021
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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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7 January 2021
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Regulation of mitochondrial ATP synthesis by calcium: evidence for a long-term metabolic priming
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7 January 2021
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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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7 January 2021
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Early mitochondrial calcium defects in Huntington's disease are a direct effect of polyglutamines.
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7 January 2021
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A calcium signaling defect in the pathogenesis of a mitochondrial DNA inherited oxidative phosphorylation deficiency
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7 January 2021
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The role of Ca2+ ions in excitation-contraction coupling of skeletal muscle fibres
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7 January 2021
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Ryanodine receptors of striated muscles: a complex channel capable of multiple interactions
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7 January 2021
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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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7 January 2021
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Detection of a novel mutation at amino acid position 614 in the ryanodine receptor in malignant hyperthermia.
1 reference
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https://api.crossref.org/works/10.1038%2FNG0603-135
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7 January 2021
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Identification of a Mutation in Porcine Ryanodine Receptor Associated with Malignant Hyperthermia
1 reference
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7 January 2021
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Malignant hyperthermia: excitation-contraction coupling, Ca2+ release channel, and cell Ca2+ regulation defects
1 reference
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reference URL
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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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reference URL
https://api.crossref.org/works/10.1038%2FNG0603-135
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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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reference URL
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7 January 2021
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inferred from DOI database lookup
Altered ryanodine receptor function in central core disease: leaky or uncoupled Ca(2+) release channels?
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https://api.crossref.org/works/10.1038%2FNG0603-135
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7 January 2021
based on heuristic
inferred from DOI database lookup
Ca2+ signalling and muscle disease
1 reference
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Crossref
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https://api.crossref.org/works/10.1038%2FNG0603-135
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7 January 2021
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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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7 January 2021
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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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https://api.crossref.org/works/10.1038%2FNG0603-135
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7 January 2021
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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.
1 reference
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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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Crossref
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Hypokalemic periodic paralysis associated with malignant hyperthermia
1 reference
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Crossref
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7 January 2021
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inferred from DOI database lookup
Muscle contracture induced by exercise. A syndrome attributable to decreased relaxing factor
1 reference
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7 January 2021
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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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https://api.crossref.org/works/10.1038%2FNG0603-135
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7 January 2021
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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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https://api.crossref.org/works/10.1038%2FNG0603-135
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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
1 reference
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7 January 2021
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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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7 January 2021
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Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia
1 reference
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7 January 2021
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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
1 reference
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https://api.crossref.org/works/10.1038%2FNG0603-135
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7 January 2021
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PKA phosphorylation dissociates FKBP12.6 from the calcium release channel (ryanodine receptor): defective regulation in failing hearts
1 reference
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https://api.crossref.org/works/10.1038%2FNG0603-135
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7 January 2021
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Differential nociceptive responses in mice lacking the alpha(1B) subunit of N-type Ca(2+) channels
1 reference
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https://api.crossref.org/works/10.1038%2FNG0603-135
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Early-onset epilepsy and postnatal lethality associated with an editing-deficient GluR-B allele in mice
1 reference
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https://api.crossref.org/works/10.1038%2FNG0603-135
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7 January 2021
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Neurodegeneration in Lurcher mice caused by mutation in delta2 glutamate receptor gene.
1 reference
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https://api.crossref.org/works/10.1038%2FNG0603-135
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7 January 2021
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An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness
1 reference
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https://api.crossref.org/works/10.1038%2FNG0603-135
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7 January 2021
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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
1 reference
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https://api.crossref.org/works/10.1038%2FNG0603-135
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7 January 2021
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Calcium channels and channelopathies of the central nervous system
1 reference
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https://api.crossref.org/works/10.1038%2FNG0603-135
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7 January 2021
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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
1 reference
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7 January 2021
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Structure and regulation of voltage-gated Ca2+ channels
1 reference
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https://api.crossref.org/works/10.1038%2FNG0603-135
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7 January 2021
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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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https://api.crossref.org/works/10.1038%2FNG0603-135
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7 January 2021
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Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel
1 reference
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7 January 2021
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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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7 January 2021
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The spinocerebellar ataxias: order emerges from chaos
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7 January 2021
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Spinocerebellar ataxia type 6 mutation alters P-type calcium channel function
1 reference
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7 January 2021
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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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7 January 2021
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Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease
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https://api.crossref.org/works/10.1038%2FNG0603-135
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7 January 2021
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Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease
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Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca(2+) pump
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https://api.crossref.org/works/10.1038%2FNG0603-135
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7 January 2021
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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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https://api.crossref.org/works/10.1038%2FNG0603-135
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7 January 2021
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Calcium-pump inhibitors induce functional surface expression of Delta F508-CFTR protein in cystic fibrosis epithelial cells
1 reference
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https://api.crossref.org/works/10.1038%2FNG0603-135
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7 January 2021
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Calreticulin is essential for cardiac development
1 reference
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7 January 2021
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Signals transduced by Ca(2+)/calcineurin and NFATc3/c4 pattern the developing vasculature
1 reference
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https://api.crossref.org/works/10.1038%2FNG0603-135
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7 January 2021
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Polycystin-2 is an intracellular calcium release channel
1 reference
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7 January 2021
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Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemia
1 reference
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https://api.crossref.org/works/10.1038%2FNG0603-135
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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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https://api.crossref.org/works/10.1038%2FNG0603-135
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7 January 2021
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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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https://api.crossref.org/works/10.1038%2FNG0603-135
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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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https://api.crossref.org/works/10.1038%2FNG0603-135
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7 January 2021
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Nomenclature of voltage-gated calcium channels.
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https://api.crossref.org/works/10.1038%2FNG0603-135
retrieved
7 January 2021
based on heuristic
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Identifiers
DOI
10.1038/NG0603-135
1 reference
stated in
Europe PubMed Central
PubMed ID
12776115
retrieved
6 August 2017
PubMed ID
12776115
1 reference
stated in
Europe PubMed Central
PubMed ID
12776115
retrieved
6 August 2017
ResearchGate publication ID
10735030
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