Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 141

1.

Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy.

Hayashi YK, Matsuda C, Ogawa M, Goto K, Tominaga K, Mitsuhashi S, Park YE, Nonaka I, Hino-Fukuyo N, Haginoya K, Sugano H, Nishino I.

J Clin Invest. 2009 Sep;119(9):2623-33. doi: 10.1172/JCI38660. Epub 2009 Aug 10.

PMID:
19726876
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

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

Smythe GM, Eby JC, Disatnik MH, Rando TA.

J Cell Sci. 2003 Dec 1;116(Pt 23):4739-49.

PMID:
14600260
[PubMed - indexed for MEDLINE]
Free Article
3.

Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations.

Rajab A, Straub V, McCann LJ, Seelow D, Varon R, Barresi R, Schulze A, Lucke B, Lützkendorf S, Karbasiyan M, Bachmann S, Spuler S, Schuelke M.

PLoS Genet. 2010 Mar 12;6(3):e1000874. doi: 10.1371/journal.pgen.1000874.

PMID:
20300641
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Caveolae and caveolin-3 in muscular dystrophy.

Galbiati F, Razani B, Lisanti MP.

Trends Mol Med. 2001 Oct;7(10):435-41. Review.

PMID:
11597517
[PubMed - indexed for MEDLINE]
5.

A Japanese child with asymptomatic elevation of serum creatine kinase shows PTRF-CAVIN mutation matching with congenital generalized lipodystrophy type 4.

Dwianingsih EK, Takeshima Y, Itoh K, Yamauchi Y, Awano H, Malueka RG, Nishida A, Ota M, Yagi M, Matsuo M.

Mol Genet Metab. 2010 Oct-Nov;101(2-3):233-7. doi: 10.1016/j.ymgme.2010.06.016. Epub 2010 Jul 1.

PMID:
20638880
[PubMed - indexed for MEDLINE]
6.

Variable reduction of caveolin-3 in patients with LGMD2B/MM.

Walter MC, Braun C, Vorgerd M, Poppe M, Thirion C, Schmidt C, Schreiber H, Knirsch UI, Brummer D, Müller-Felber W, Pongratz D, Müller-Höcker J, Huebner A, Lochmüller H.

J Neurol. 2003 Dec;250(12):1431-8.

PMID:
14673575
[PubMed - indexed for MEDLINE]
7.

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

Minetti C, Sotgia F, Bruno C, Scartezzini P, Broda P, Bado M, Masetti E, Mazzocco M, Egeo A, Donati MA, Volonte D, Galbiati F, Cordone G, Bricarelli FD, Lisanti MP, Zara F.

Nat Genet. 1998 Apr;18(4):365-8.

PMID:
9537420
[PubMed - indexed for MEDLINE]
8.

Polymerase transcriptase release factor (PTRF) anchors MG53 protein to cell injury site for initiation of membrane repair.

Zhu H, Lin P, De G, Choi KH, Takeshima H, Weisleder N, Ma J.

J Biol Chem. 2011 Apr 15;286(15):12820-4. doi: 10.1074/jbc.C111.221440. Epub 2011 Feb 22.

PMID:
21343302
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

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

Traverso M, Gazzerro E, Assereto S, Sotgia F, Biancheri R, Stringara S, Giberti L, Pedemonte M, Wang X, Scapolan S, Pasquini E, Donati MA, Zara F, Lisanti MP, Bruno C, Minetti C.

Lab Invest. 2008 Mar;88(3):275-83. doi: 10.1038/labinvest.3700713. Epub 2008 Feb 4.

PMID:
18253147
[PubMed - indexed for MEDLINE]
Free Article
10.

Caveolin-3 deficiency causes muscle degeneration in mice.

Hagiwara Y, Sasaoka T, Araishi K, Imamura M, Yorifuji H, Nonaka I, Ozawa E, Kikuchi T.

Hum Mol Genet. 2000 Dec 12;9(20):3047-54.

PMID:
11115849
[PubMed - indexed for MEDLINE]
Free Article
11.

Accumulation of caveolin-3 protein is limited in damaged muscle in chicken muscular dystrophy.

Matsumoto H, Sasazaki S, Fujiwara A, Ichihara N, Kikuchi T, Mannen H.

Comp Biochem Physiol A Mol Integr Physiol. 2010 Sep;157(1):68-72. doi: 10.1016/j.cbpa.2010.04.019. Epub 2010 May 6.

PMID:
20451648
[PubMed - indexed for MEDLINE]
12.

The Caveolin genes: from cell biology to medicine.

Williams TM, Lisanti MP.

Ann Med. 2004;36(8):584-95. Review.

PMID:
15768830
[PubMed - indexed for MEDLINE]
13.

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

Minetti C, Bado M, Broda P, Sotgia F, Bruno C, Galbiati F, Volonte D, Lucania G, Pavan A, Bonilla E, Lisanti MP, Cordone G.

Am J Pathol. 2002 Jan;160(1):265-70.

PMID:
11786420
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Caveolin-3 in muscular dystrophy.

McNally EM, de Sá Moreira E, Duggan DJ, Bönnemann CG, Lisanti MP, Lidov HG, Vainzof M, Passos-Bueno MR, Hoffman EP, Zatz M, Kunkel LM.

Hum Mol Genet. 1998 May;7(5):871-7.

PMID:
9536092
[PubMed - indexed for MEDLINE]
Free Article
15.

Cavin proteins: New players in the caveolae field.

Briand N, Dugail I, Le Lay S.

Biochimie. 2011 Jan;93(1):71-7. doi: 10.1016/j.biochi.2010.03.022. Epub 2010 Apr 2. Review.

PMID:
20363285
[PubMed - indexed for MEDLINE]
16.

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

Herrmann R, Straub V, Blank M, Kutzick C, Franke N, Jacob EN, Lenard HG, Kröger S, Voit T.

Hum Mol Genet. 2000 Sep 22;9(15):2335-40.

PMID:
11001938
[PubMed - indexed for MEDLINE]
Free Article
17.

Increased number of caveolae and caveolin-3 overexpression in Duchenne muscular dystrophy.

Repetto S, Bado M, Broda P, Lucania G, Masetti E, Sotgia F, Carbone I, Pavan A, Bonilla E, Cordone G, Lisanti MP, Minetti C.

Biochem Biophys Res Commun. 1999 Aug 11;261(3):547-50.

PMID:
10441463
[PubMed - indexed for MEDLINE]
18.

Novel PTRF mutation in a child with mild myopathy and very mild congenital lipodystrophy.

Ardissone A, Bragato C, Caffi L, Blasevich F, Maestrini S, Bianchi ML, Morandi L, Moroni I, Mora M.

BMC Med Genet. 2013 Sep 11;14:89. doi: 10.1186/1471-2350-14-89.

PMID:
24024685
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

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

Sunada Y, Ohi H, Hase A, Ohi H, Hosono T, Arata S, Higuchi S, Matsumura K, Shimizu T.

Hum Mol Genet. 2001 Feb 1;10(3):173-8.

PMID:
11159934
[PubMed - indexed for MEDLINE]
Free Article
20.

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.

Song KS, Scherer PE, Tang Z, Okamoto T, Li S, Chafel M, Chu C, Kohtz DS, Lisanti MP.

J Biol Chem. 1996 Jun 21;271(25):15160-5.

PMID:
8663016
[PubMed - indexed for MEDLINE]
Free Article

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk