| 1 | CAV3, LGMD1C
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| The Caveolin-3 P104L mutation of LGMD-1C leads to disordered glucose metabolism in muscle cells.
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| Deng Y, Huang Y, Lu W, Huang Y, Xian J, Wei H, Huang Q.
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| Biochem Biophys Res Commun iochem Biophys Res Commun. 2017 Feb 20. pii: S0006-291X(17)30353-4. doi: 10.1016/j.bbrc.2017.02.072. [Epub ahead of print]
2017
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| 2 | CAV3
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| Caveolin-3 Overexpression Attenuates Cardiac Hypertrophy via Inhibition of T-type Ca2+ Current Modulated by Protein Kinase Cα in Cardiomyocytes.
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| Markandeya YS, Phelan LJ, Woon MT, Keefe AM, Reynolds CR, August BK, Hacker TA, Roth DM, Patel HH, Balijepalli RC.
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| J Biol Chem 290(36):22085-100. doi: 10.1074/jbc.M115.674945.
2015
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| 3 | CAV3, RYR2
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| The molecular interaction of heart LIM protein (HLP) with RyR2 and caveolin-3 is essential for Ca(2+)-induced Ca(2+) release in the heart.
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| Song DW, Lee KE, Ryu JY, Jeon H, Kim DH.
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| Biochem Biophys Res Commun 463(4):975-81. doi: 10.1016/j.bbrc.2015.06.045.
2015
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| 4 | CAV3
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| Role of caveolin-3 in lymphocyte activation.
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| Tran C, Stary CM, Schilling JM, Bentley B, Patel HH, Roth DM.
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| Life Sci 121:35-9. doi: 10.1016/j.lfs.2014.11.017.
2015
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| 5 | CAV3
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| Caveolin modulates integrin function and mechanical activation in the cardiomyocyte.
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| Israeli-Rosenberg S, Chen C, Li R, Deussen DN, Niesman IR, Okada H, Patel HH, Roth DM, Ross RS.
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| FASEB J 29(2):374-84. doi: 10.1096/fj.13-243139.
2015
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| 6 | CAV3
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| Identification and functional analysis of a new putative caveolin-3 variant found in a patient with sudden unexplained death.
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| Lariccia V, Nasti AA, Alessandrini F, Pesaresi M, Gratteri S, Tagliabracci A, Amoroso S.
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| J Biomed Sci 21:58. doi: 10.1186/1423-0127-21-58.
2014
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| 7 | CAV3, LQT9
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| The interaction of caveolin 3 protein with the potassium inward rectifier channel Kir2.1: physiology and pathology related to long qt syndrome 9 (LQT9).
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| Vaidyanathan R, Vega AL, Song C, Zhou Q, Tan BH, Berger S, Makielski JC, Eckhardt LL.
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| J Biol Chem 288(24):17472-80. doi: 10.1074/jbc.M112.435370. Erratum in: J Biol Chem. 2013 Oct 4;288(40):28948. Tan, Bihua [corrected to Tan, 2013
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| 8 | CAV3
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| Palmitate diet-induced loss of cardiac caveolin-3: a novel mechanism for lipid-induced contractile dysfunction.
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| Knowles CJ, Cebova M, Pinz IM.
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| PLoS One 8(4):e61369. doi: 10.1371/journal.pone.0061369.
2013
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| 9 | CAV3, HCN4
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| Molecular and functional evidence of HCN4 and caveolin-3 interaction during cardiomyocyte differentiation from human embryonic stem cells.
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| Bosman A, Sartiani L, Spinelli V, Del Lungo M, Stillitano F, Nosi D, Mugelli A, Cerbai E, Jaconi M.
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| Stem Cells Dev 22(11):1717-27. doi: 10.1089/scd.2012.0247.
2013
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| 10 | CAV3, KCNH2, NEDD4L
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| Cell surface expression of human ether-a-go-go-related gene (hERG) channels is regulated by caveolin-3 protein via the ubiquitin ligase Nedd4-2.
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| Guo J, Wang T, Li X, Shallow H, Yang T, Li W, Xu J, Fridman MD, Yang X, Zhang S.
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| J Biol Chem 287(40):33132-41.
2012
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| 11 | CAV3, RYR1
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| Characterization of the molecular architecture of human caveolin-3 and interaction with the skeletal muscle ryanodine receptor.
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| Whiteley G, Collins RF, Kitmitto A.
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| J Biol Chem 287(48):40302-16. doi: 10.1074/jbc.M112.377085.
2012
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| 12 | CAV3
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| Essential role of caveolin-3 in adiponectin signalsome formation and adiponectin cardioprotection.
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| Wang Y, Wang X, Jasmin JF, Lau WB, Li R, Yuan Y, Yi W, Chuprun K, Lisanti MP, Koch WJ, Gao E, Ma XL.
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| Arterioscler Thromb Vasc Biol 32(4):934-42. doi: 10.1161/ATVBAHA.111.242164.
2012
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| 13 | CAV3, QDPR
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| Caveolin-3 is a direct molecular partner of the Cav1.1 subunit of the skeletal muscle L-type calcium channel.
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| Couchoux H, Bichraoui H, Chouabe C, Altafaj X, Bonvallet R, Allard B, Ronjat M, Berthier C.
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| Int J Biochem Cell Biol 43(5):713-20. Epub 2011 Jan 22.
2011
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| 14 | CAV3, RMD2
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| Alterations of excitation-contraction coupling and excitation coupled Ca(2+) entry in human myotubes carrying CAV3 mutations linked to rippling muscle.
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| Ullrich ND, Fischer D, Kornblum C, Walter MC, Niggli E, Zorzato F, Treves S.
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| Hum Mutat 32(3):309-17. doi: 10.1002/humu.21431.
2011
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| 15 | CAV3, LGMD1C, LQT9, RMD2
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| Caveolinopathies: from the biology of caveolin-3 to human diseases.
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| Gazzerro E, Sotgia F, Bruno C, Lisanti MP, Minetti C.
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| Eur J Hum Genet 18(2):137-45. Epub 2009 Jul 8. Review. Erratum in: Eur J Hum Genet. 2009 Dec;17(12):1692. PMID: 19584897 2010
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| 16 | CAV3, RMD2
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| Bedside diagnosis of rippling muscle disease in CAV3 p.A46T mutation carriers.
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| Sundblom J, Stĺlberg E, Osterdahl M, Rücker F, Montelius M, Kalimo H, Nennesmo I, Islander G, Smits A, Dahl N, Melberg A.
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| Muscle Nerve 41(6):751-7.PMID: 20229577 2010
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| 17 | CAV3, VDR
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| Membrane localization, Caveolin-3 association and rapid actions of vitamin D receptor in cardiac myocytes.
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| Zhao G, Simpson RU.
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| Steroids 75(8-9):555-9. Epub 2009 Dec 14.PMID: 20015453 2010
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| 18 | CAV3
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| Caveolin-3 promotes nicotinic acetylcholine receptor clustering and regulates neuromuscular junction activity.
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| Hezel M, de Groat WC, Galbiati F.
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| Mol Biol Cell 21(2):302-10. Epub 2009 Nov 25.PMID: 19940021 2010
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| 19 | CAV3, CHRNA1
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| Caveolin-3 promotes nicotinic acetylcholine receptor clustering and regulates neuromuscular junction activity.
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| Hezel M, de Groat WC, Galbiati F.
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| Mol Biol Cell 21(2):302-10. doi: 10.1091/mbc.E09-05-0381. Epub 2009 Nov 25.
2010
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| 20 | CAV3, RMD2
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| Rippling muscle disease and cardiomyopathy associated with a mutation in the CAV3 gene.
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| Catteruccia M, Sanna T, Santorelli FM, Tessa A, Di Giacopo R, Sauchelli D, Verbo A, Lo Monaco M, Servidei S.
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| Neuromuscul Disord 19(11):779-83. Epub 2009 Sep 20.PMID: 1977316 2009
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| 21 | CAV1, CAV2, CAV3
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| Caveolins sequester fatty acids on the cytoplasmic leaflet of the plasma membrane, augment triglyceride formation and protect cells from lipotoxicity.
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| Simard JR, Meshulam T, Pillai BK, Kirber MT, Brunaldi K, Xu S, Pilch PF, Hamilton JA.
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| J Lipid Res Lipid Res. 2009 Jul 15. [Epub ahead of print]PMID: 19605920 2009
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| 22 | CAV3
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| Caveolin-3 negatively regulates recombinant cardiac K(ATP) channels.
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| Garg V, Sun W, Hu K.
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| Biochem Biophys Res Commun 385(3):472-7. Epub 2009 May 27.PMID: 19481058 2009
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| 23 | CAV3, RMD2
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| Truncation of Caveolin-3 causes autosomal-recessive Rippling Muscle Disease.
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| Traverso M, Bruno C, Broccolini A, Sotgia F, Donati MA, Assereto S, Gazzerro E, Lo Monaco M, Modoni A, D'Amico A, Gasperini S, Ricci E, Zara F, Lisanti M, Minetti C.
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| J Neurol Neurosurg Psychiatry 79(6):735-7. No abstract available. PMID: 18487559 2008
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| 24 | CAV3, DMD, TRPC1
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| TRPC1 binds to caveolin-3 and is regulated by Src kinase - role in Duchenne muscular dystrophy.
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| Gervásio OL, Whitehead NP, Yeung EW, Phillips WD, Allen DG.
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| J Cell Sci 121(Pt 13):2246-55. Epub 2008 Jun 10.PMID: 1854463 2008
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| 25 | CAV3, RMD2
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| Caveolinopathy--new mutations and additional symptoms.
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| Aboumousa A, Hoogendijk J, Charlton R, Barresi R, Herrmann R, Voit T, Hudson J, Roberts M, Hilton-Jones D, Eagle M, Bushby K, Straub V.
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| Neuromuscul Disord 18(7):572-8. Epub 2008 Jun 25.
2008
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| 26 | CAV3, RMD2
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| Novel homozygous mutation of the caveolin-3 gene in rippling muscle disease with extraocular muscle paresis.
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| Ueyama H, Horinouchi H, Obayashi K, Hashinaga M, Okazaki T, Kumamoto T.
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| Neuromuscul Disord 17(7):558-61. Epub 2007 May 29.
2007
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| 27 | DYSF, CAV1, CAV3
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| Aberrant dysferlin trafficking in cells lacking caveolin or expressing dystrophy mutants of caveolin-3.
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| Hernandez-Deviez DJ, Martin S, Laval SH, Lo HP, Cooper ST, North KN, Bushby K, Parton RG.
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| Hum Mol Genet 15(1):129-42. Epub 2005 Nov 30. 2006
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| 28 | CAV3
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| Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome.
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| Vatta M, Ackerman MJ, Ye B, Makielski JC, Ughanze EE, Taylor EW, Tester DJ, Balijepalli RC, Foell JD, Li Z, Kamp TJ, Towbin JA.
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| Circulation 114(20):2104-12. Epub 2006 Oct 23. 2006
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| 29 | CAV3, LGMD1C, RMD2
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| CAV3 gene mutation analysis in patients with idiopathic hyper-CK-emia.
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| Reijneveld JC, Ginjaar IB, Frankhuizen WS, Notermans NC.
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| Muscle Nerve 34(5):656-8. 2006
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| 30 | CAV3, RMD2
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| Caveolin-3 inhibits growth signal in cardiac myoblasts in a Ca2+-dependent manner.
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| Fujita T, Otsu K, Oshikawa J, Hori H, Kitamura H, Ito T, Umemura S, Minamisawa S, Ishikawa Y.
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| J Cell Mol Med 10(1):216-24. 2006
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| 31 | CAV3, RMD2
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| A new missense mutation in caveolin-3 gene causes rippling muscle disease.
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| Dotti MT, Malandrini A, Gambelli S, Salvadori C, De Stefano N, Federico A.
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| J Neurol Sci 243(1-2):61-4. Epub 2006 Feb 3. 2006
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| 32 | CAV3, LQT9
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| Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome.
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| Vatta M, Ackerman MJ, Ye B, Makielski JC, Ughanze EE, Taylor EW, Tester DJ, Balijepalli RC, Foell JD, Li Z, Kamp TJ, Towbin JA.
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| Circulation 114(20):2104-12. Epub 2006 Oct 23.
2006
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| 33 | CAV3, RMD2
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| Early-onset toe walking in rippling muscle disease due to a new caveolin-3 gene mutation.
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| Madrid RE, Kubisch C, Hays AP.
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| Neurology 65(8):1301-3. 2005
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| 34 | LGMD1C, CAV3
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| Identification and functional analysis of a caveolin-3 mutation associated with familial hypertrophic cardiomyopathy.
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| Hayashi T, Arimura T, Ueda K, Shibata H, Hohda S, Takahashi M, Hori H, Koga Y, Oka N, Imaizumi T, Yasunami M, Kimura A.
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| Biochem Biophys Res Commun 313(1):178-84. 2004
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| 35 | LGMD1C, CAV3
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| Two novel CAV3 gene mutations in Japanese families.
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| Sugie K, Murayama K, Noguchi S, Murakami N, Mochizuki M, Hayashi YK, Nonaka I, Nishino I.
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| Neuromuscul Disord 14(12):810-4. 2004
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| 36 | CAV3, RMD2
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| Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy.
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| Tateyama M, Aoki M, Nishino I, Hayashi YK, Sekiguchi S, Shiga Y, Takahashi T, Onodera Y, Haginoya K, Kobayashi K, Iinuma K, Nonaka I, Arahata K, Itoyama Y, Itoyoma Y.
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| Neurology 58(2):323-5. Erratum in: Neurology 2002 Mar 12;58(5):839. 2002
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| 37 | CAV3, LGMD1C
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| Mutations in the caveolin-3 gene: When are they pathogenic?
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| de Paula F, Vainzof M, Bernardino AL, McNally E, Kunkel LM, Zatz M.
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| Am J Med Genet 99(4):303-7. 2001
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| 38 | CAV3, DYSF
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| The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle.
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| Matsuda C, Hayashi YK, Ogawa M, Aoki M, Murayama K, Nishino I, Nonaka I, Arahata K, Jr RH Jr.
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| Hum Mol Genet 10(17):1761-6. 2001
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| 39 | CAV3, RMD2
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| Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease.
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| Betz RC, Schoser BG, Kasper D, Ricker K, Ramirez A, Stein V, Torbergsen T, Lee YA, Nothen MM, Wienker TF, Malin JP, Propping P, Reis A, Mortier W, Jentsch TJ, Vorgerd M, Kubisch C.
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| Nat Genet 28(3):218-9. 2001
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| 40 | CAV3, RMD2
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| A sporadic case of rippling muscle disease caused by a de novo caveolin-3 mutation.
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| Vorgerd M, Ricker K, Ziemssen F, Kress W, Goebel HH, Nix WA, Kubisch C, Schoser BG, Mortier W.
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| Neurology 57(12):2273-7. 2001
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| 41 | CAV3
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| Transgenic overexpression of caveolin-3 in skeletal muscle fibers induces a duchenne-like muscular dystrophy phenotype.
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| Galbiati F, Volonte D, Chu JB, Li M, Fine SW, Fu M, Bermudez J, Pedemonte M, Weidenheim KM, Pestell RG, Minetti C, Lisanti MP.
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| Proc Natl Acad Sci U S A 97(17):9689-94. 2000
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| 42 | CAV3, LGMD1C
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| Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophy.
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| Herrmann R, Straub V, Blank M, Kutzick C, Franke N, Jacob EN, Lenard HG, Kroger S, Voit T.
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| Hum Mol Genet 9(15):2335-40. 2000
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| 43 | CAV3, DAG1
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| Caveolin-3 directly interacts with the C-terminal tail of beta -dystroglycan. Identification of a central WW-like domain within caveolin family members.
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| Sotgia F, Lee JK, Das K, Bedford M, Petrucci TC, Macioce P, Sargiacomo M, Bricarelli FD, Minetti C, Sudol M, Lisanti MP.
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| J Biol Chem 275(48):38048-58. 2000
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| 44 | CAV3, LGMD1C, RMD2
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| 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.
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| Galbiati F, Volonte D, Minetti C, Bregman DB, Lisanti MP.
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| J Biol Chem 275(48):37702-11. 2000
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| 45 | CAV3, DEL3PD
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| 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.
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| Sotgia F, et al.
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| FEBS Lett 452(3):177-80. 1999
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| 46 | CAV3
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| Caveolin-3 upregulation activates beta-secretase-mediated cleavage of the amyloid precursor protein in Alzheimer's disease.
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| Nishiyama K, et al.
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| J Neurosci 19(15):6538-48 1999
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| 47 | CAV3, LGMD1C
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| 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.
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| Galbiati F, Volont D, Minetti C, Chu JB, Lisanti MP.
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| J Biol Chem 274(36):25632-41 1999
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| 48 | CAV3, LGMD1C
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| Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy.
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| 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.
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| Nat Genet 18(4):365-8. 1998
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| 49 | CAV2, CAV2, CAV3
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| Caveolins, a family of scaffolding proteins for organizing preassembled signaling complexes at the plasma membrane.
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| Okamoto T, Schlegel A, Scherer PE, Lisanti MP.
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| J Biol Chem 273(10):5419-22. 1998
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| 50 | CAV3
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| Caveolin-3 in muscular dystrophy.
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| McNally EM, et al.
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| Hum Mol Genet 7 : 871-877. 1998
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| 51 | CAV1, CAV2, CAV3
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| Affinity-purification and characterization of caveolins from the brain : differential expression of caveolin-1, -2, and -3 in brain endothelial and astroglial cell types.
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| Ikezu T, Ueda H, Trapp BD, Nishiyama K, Sha JF, Volonte D, Galbiati F, Byrd AL, Bassell G, Serizawa H, Lane WS, Lisanti MP, Okamoto T.
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| Brain Res 804 : 177-192. 1998
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| 52 | CAV1, CAV2, CAV3
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| Molecular genetics of the caveolin gene family : implications for human cancers, diabetes, Alzheimer disease, and muscular dystrophy.
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| Engelman JA, et al.
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| Am J Hum Genet 63 : 1578-1587. 1998
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| 53 | CAV3
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| 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.
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| Song KS, et al.
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| J Biol Chem 271 : 15160-15165. 1996
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| 54 | CAV3
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| Molecular cloning of caveolin-3, a novel member of the caveolin gene family expressed predominantly in muscle.
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| Tang Z, et al.
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| J Biol Chem 271 : 2255-2261. 1996
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| 55 | CAV3
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| M-caveolin, a muscle-specific caveolin-related protein.
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| Way M, et al.
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| FEBS Lett 376 : 108-112. 1995
|