(Q46769731)

25 December 2017

title

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

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25 December 2017

4

Federica Sotgia

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25 December 2017

14

Michael P Lisanti

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25 December 2017

11

Elisabetta Pasquini

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25 December 2017

Elisabetta Gazzerro

2

Elisabetta Gazzerro

1 reference

25 December 2017

Roberta Biancheri

5

Roberta Biancheri

1 reference

25 December 2017

Stefania Assereto

3

Stefania Assereto

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25 December 2017

Federico Zara

13

Federico Zara

1 reference

25 December 2017

Silvia Stringara

6

Silvia Stringara

1 reference

25 December 2017

Marina Pedemonte

8

Marina Pedemonte

1 reference

25 December 2017

Monica Traverso

1

Monica Traverso

1 reference

25 December 2017

Sara Scapolan

10

Sara Scapolan

1 reference

25 December 2017

author name string

Laura Giberti

7

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25 December 2017

Xiabo Wang

9

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25 December 2017

Maria A Donati

12

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25 December 2017

Claudio Bruno

15

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25 December 2017

Carlo Minetti

16

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25 December 2017

publication date

4 February 2008

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25 December 2017

published in

Laboratory Investigation

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25 December 2017

volume

88

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25 December 2017

issue

3

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25 December 2017

page(s)

275-283

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25 December 2017

https://scigraph.springernature.com/pub.10.1038/labinvest.3700713

exact match

0 references

cites work

The Caveolin genes: from cell biology to medicine

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700713

Molecular cloning of caveolin-3, a novel member of the caveolin gene family expressed predominantly in muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700713

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700713

Caveolins, a family of scaffolding proteins for organizing "preassembled signaling complexes" at the plasma membrane

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700713

Muscle-specific interaction of caveolin isoforms: differential complex formation between caveolins in fibroblastic vs. muscle cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700713

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700713

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700713

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700713

Evidence for a regulated interaction between heterotrimeric G proteins and caveolin

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700713

Endothelial nitric oxide synthase is regulated by tyrosine phosphorylation and interacts with caveolin-1

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700713

Acylation targets emdothelial nitric-oxide synthase to plasmalemmal caveolae

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700713

A caveolin-3 mutant that causes limb girdle muscular dystrophy type 1C disrupts Src localization and activity and induces apoptosis in skeletal myotubes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700713

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700713

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700713

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700713

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%2FLABINVEST.3700713

Caveolae and caveolin-3 in muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700713

Molecular and muscle pathology in a series of caveolinopathy patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700713

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700713

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700713

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%2FLABINVEST.3700713

Increased progerin expression associated with unusual LMNA mutations causes severe progeroid syndromes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700713

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700713

"Laminopathies": a wide spectrum of human diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700713

Brief report: deletion of the dystrophin muscle-promoter region associated with X-linked dilated cardiomyopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700713

Desmin mutation responsible for idiopathic dilated cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700713

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700713

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700713

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700713

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700713

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700713

A CAV3 microdeletion differentially affects skeletal muscle and myocardium

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700713

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700713

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700713

Caveolae modulate excitation-contraction coupling and beta2-adrenergic signalling in adult rat ventricular myocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700713

Aberrant dysferlin trafficking in cells lacking caveolin or expressing dystrophy mutants of caveolin-3

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700713

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700713

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700713

Phenotypic variability associated with Arg26Gln mutation in caveolin3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700713

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700713

21 January 2018

Caveolae and caveolins

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700713

A molecular dissection of caveolin-1 membrane attachment and oligomerization. Two separate regions of the caveolin-1 C-terminal domain mediate membrane binding and oligomer/oligomer interactions in vivo

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700713

The membrane-spanning domains of caveolins-1 and -2 mediate the formation of caveolin hetero-oligomers. Implications for the assembly of caveolae membranes in vivo

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700713

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700713

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700713

7 January 2021

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

https://api.crossref.org/works/10.1038%2FLABINVEST.3700713

7 January 2021

Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700713

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700713

7 January 2021

10.1038/LABINVEST.3700713

Identifiers

DOI

1 reference

25 December 2017

PubMed ID

18253147

1 reference

25 December 2017