Caveolinopathies: from the biology of caveolin-3 to human diseases (Q24599074)

object named as

Michael P Lisanti

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Elisabetta Gazzerro

object named as

Elisabetta Gazzerro

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author name string

Claudio Bruno

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Carlo Minetti

European Journal of Human Genetics

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language of work or name

English

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publication date

February 2010

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published in

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volume

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issue

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page(s)

137-45

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cites work

A novel in-frame deletion in the CAV3 gene in a Korean patient with rippling muscle disease

1 reference

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Novel mechanism for sudden infant death syndrome: persistent late sodium current secondary to mutations in caveolin-3

24 March 2017

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Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987183

Adenovirus-mediated overexpression of caveolin-3 inhibits rat cardiomyocyte hypertrophy

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987183

Caveolin-3 directly interacts with the C-terminal tail of beta -dystroglycan. Identification of a central WW-like domain within caveolin family members

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987183

Identification, sequence, and expression of caveolin-2 defines a caveolin gene family

24 March 2017

1 reference

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Dysferlin is a surface membrane-associated protein that is absent in Miyoshi myopathy

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987183

Substrate uptake and metabolism are preserved in hypertrophic caveolin-3 knockout hearts

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987183

Caveolin regulates endocytosis of the muscle repair protein, dysferlin

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987183

Caveolinopathies: mutations in caveolin-3 cause four distinct autosomal dominant muscle diseases

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987183

Identification and functional analysis of a caveolin-3 mutation associated with familial hypertrophic cardiomyopathy

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987183

Limb-girdle muscular dystrophy in a 71-year-old woman with an R27Q mutation in the CAV3 gene

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987183

Caveolin-3 knock-out mice develop a progressive cardiomyopathy and show hyperactivation of the p42/44 MAPK cascade

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987183

The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987183

Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987183

Transgenic mice expressing mutant caveolin-3 show severe myopathy associated with increased nNOS activity

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987183

Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophy

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987183

Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987183

Localization of the human caveolin-3 gene to the D3S18/D3S4163/D3S4539 locus (3p25), in close proximity to the human oxytocin receptor gene. Identification of the caveolin-3 gene as a candidate for deletion in 3p-syndrome

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987183

Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987183

Caveolin-3 in muscular dystrophy

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987183

Interaction of neuronal nitric-oxide synthase with caveolin-3 in skeletal muscle. Identification of a novel caveolin scaffolding/inhibitory domain

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987183

Association of phosphofructokinase-M with caveolin-3 in differentiated skeletal myotubes. Dynamic regulation by extracellular glucose and intracellular metabolites

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987183

Regulation of skeletal muscle mass in mice by a new TGF-beta superfamily member

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987183

Localization of cardiac L-type Ca(2+) channels to a caveolar macromolecular signaling complex is required for beta(2)-adrenergic regulation

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987183

Behavior of caveolae and caveolin-3 during the development of myocyte hypertrophy

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987183

Localization of cardiac sodium channels in caveolin-rich membrane domains: regulation of sodium current amplitude

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987183

Caveolin-3 null mice show a loss of caveolae, changes in the microdomain distribution of the dystrophin-glycoprotein complex, and t-tubule abnormalities

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987183

Expression of caveolin-3 in skeletal, cardiac, and smooth muscle cells. Caveolin-3 is a component of the sarcolemma and co-fractionates with dystrophin and dystrophin-associated glycoproteins

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987183

Clinical and translational implications of the caveolin gene family: lessons from mouse models and human genetic disorders

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987183

Hypertrophy and atrophy inversely regulate Caveolin-3 expression in myoblasts.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987183

Localization of f-channels to caveolae mediates specific beta2-adrenergic receptor modulation of rate in sinoatrial myocytes

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987183

Muscular atrophy of caveolin-3-deficient mice is rescued by myostatin inhibition

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987183

Altered caveolin-3 expression disrupts PI(3) kinase signaling leading to death of cultured muscle cells.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987183

The Caveolin genes: from cell biology to medicine

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987183

Molecular and muscle pathology in a series of caveolinopathy patients

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987183

Novel missense mutation in the caveolin-3 gene in a Belgian family with rippling muscle disease.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987183

Phosphofructokinase muscle-specific isoform requires caveolin-3 expression for plasma membrane recruitment and caveolar targeting: implications for the pathogenesis of caveolin-related muscle diseases

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987183

Familial isolated hyperCKaemia associated with a new mutation in the caveolin-3 (CAV-3) gene

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987183

Intracellular retention of glycosylphosphatidyl inositol-linked proteins in caveolin-deficient cells.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987183

Lipid rafts and little caves. Compartmentalized signalling in membrane microdomains

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987183

The WW domain: linking cell signalling to the membrane cytoskeleton

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987183

Impairment of caveolae formation and T-system disorganization in human muscular dystrophy with caveolin-3 deficiency

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987183

Caveolae and caveolin-3 in muscular dystrophy

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987183

Transgenic overexpression of caveolin-3 in skeletal muscle fibers induces a Duchenne-like muscular dystrophy phenotype

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987183

Role of plasmalemmal caveolae in signal transduction.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987183

27 September 2017

Caveolae and caveolins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987183

Overexpression of P104L mutant caveolin-3 in mice develops hypertrophic cardiomyopathy with enhanced contractility in association with increased endothelial nitric oxide synthase activity

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987183

Caveolin-1-deficient mice show insulin resistance and defective insulin receptor protein expression in adipose tissue

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987183

Insulin induces translocation of glucose transporter GLUT4 to plasma membrane caveolae in adipocytes.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987183

Phenotypic behavior of caveolin-3 mutations that cause autosomal dominant limb girdle muscular dystrophy (LGMD-1C). Retention of LGMD-1C caveolin-3 mutants within the golgi complex

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987183

Expression of caveolin-3 immunoreactivities in the developing sciatic nerve of the rat.

30 May 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.103

Caveolin-3 is not an integral component of the dystrophin glycoprotein complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.103

Isoform-specific localization of voltage-gated K+ channels to distinct lipid raft populations. Targeting of Kv1.5 to caveolae

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.103

Zebrafish as a model for caveolin-associated muscle disease; caveolin-3 is required for myofibril organization and muscle cell patterning.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.103

Caveolin-3 knockout mice show increased adiposity and whole body insulin resistance, with ligand-induced insulin receptor instability in skeletal muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.103

Localization of the human caveolin-3 gene to the D3S18/D3S4163/D3S4539 locus (3p25), in close proximity to the human oxytocin receptor gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.103

Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.103

Novel homozygous mutation of the caveolin-3 gene in rippling muscle disease with extraocular muscle paresis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.103

Truncation of Caveolin-3 causes autosomal-recessive Rippling Muscle Disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.103

Caveolin-3 T78M and T78K missense mutations lead to different phenotypes in vivo and in vitro

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.103

Two novel CAV3 gene mutations in Japanese families

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.103

Phenotypic variability associated with Arg26Gln mutation in caveolin3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.103

Consequences of a novel caveolin-3 mutation in a large German family

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.103

Mutation in the CAV3 gene causes partial caveolin-3 deficiency and persistent elevated levels of serum creatine kinase

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.103

A novel mutation in the caveolin-3 gene causing familial isolated hyperCKaemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.103

Rippling muscle disease in childhood

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.103

Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.103

Phenotypic variability in a Spanish family with a Caveolin-3 mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.103

A CAV3 microdeletion differentially affects skeletal muscle and myocardium

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.103

Limb-girdle muscular dystrophy (LGMD-1C) mutants of caveolin-3 undergo ubiquitination and proteasomal degradation. Treatment with proteasomal inhibitors blocks the dominant negative effect of LGMD-1C mutanta and rescues wild-type caveolin-3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.103

Caveolin-1-deficient mice have increased tumor microvascular permeability, angiogenesis, and growth

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.103

Novel splice site mutation in the caveolin-3 gene leading to autosomal recessive limb girdle muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.103

Limb–girdle muscular dystrophies

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.103

Short-Term Administration of a Cell-Permeable Caveolin-1 Peptide Prevents the Development of Monocrotaline-Induced Pulmonary Hypertension and Right Ventricular Hypertrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.103

The cardiac sodium-calcium exchanger associates with caveolin-3.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987183

Modulating skeletal muscle mass by postnatal, muscle-specific inactivation of the myostatin gene

28 November 2018

1 reference

12 December 2020

Caveolin-3 gene mutation in Japanese with rippling muscle disease

1 reference

12 December 2020

Selective inhibition of tumor microvascular permeability by cavtratin blocks tumor progression in mice

1 reference

12 December 2020

Early-onset toe walking in rippling muscle disease due to a new caveolin-3 gene mutation

1 reference

12 December 2020

A new missense mutation in caveolin-3 gene causes rippling muscle disease

1 reference

12 December 2020

CAV3 gene mutation analysis in patients with idiopathic hyper-CK-emia

1 reference

12 December 2020

Caveolin-3 deficiency as a cause of limb-girdle muscular dystrophy

1 reference

12 December 2020

Targeted down-regulation of caveolin-3 is sufficient to inhibit myotube formation in differentiating C2C12 myoblasts. Transient activation of p38 mitogen-activated protein kinase is required for induction of caveolin-3 expression and subsequent myot

1 reference

12 December 2020

Autosomal recessive rippling muscle disease with homozygous CAV3 mutations

1 reference

12 December 2020

Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients

1 reference

12 December 2020

Caveolinopathy--new mutations and additional symptoms

1 reference

12 December 2020

A novel missense mutation in the caveolin-3 gene in rippling muscle disease

1 reference

12 December 2020

Phenotypic behavior of C2C12 myoblasts upon expression of the dystrophy-related caveolin-3 P104L and TFT mutants

1 reference

12 December 2020

A sporadic case of rippling muscle disease caused by a de novo caveolin-3 mutation

1 reference

12 December 2020

Identifiers

DOI

10.1038/EJHG.2009.103

1 reference

Dimensions Publication ID

1006062053

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1 reference

1 reference

PubMed publication ID

19584897

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