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Journal Abstract Search

171 related items for PubMed ID: 12556521

  • 1. Targeted disruption of the ATP2A1 gene encoding the sarco(endo)plasmic reticulum Ca2+ ATPase isoform 1 (SERCA1) impairs diaphragm function and is lethal in neonatal mice.
    Pan Y, Zvaritch E, Tupling AR, Rice WJ, de Leon S, Rudnicki M, McKerlie C, Banwell BL, MacLennan DH.
    J Biol Chem; 2003 Apr 11; 278(15):13367-75. PubMed ID: 12556521
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  • 2. 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.
    Odermatt A, Barton K, Khanna VK, Mathieu J, Escolar D, Kuntzer T, Karpati G, MacLennan DH.
    Hum Genet; 2000 May 11; 106(5):482-91. PubMed ID: 10914677
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  • 3. Inhibition of ubiquitin proteasome system rescues the defective sarco(endo)plasmic reticulum Ca2+-ATPase (SERCA1) protein causing Chianina cattle pseudomyotonia.
    Bianchini E, Testoni S, Gentile A, Calì T, Ottolini D, Villa A, Brini M, Betto R, Mascarello F, Nissen P, Sandonà D, Sacchetto R.
    J Biol Chem; 2014 Nov 28; 289(48):33073-82. PubMed ID: 25288803
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  • 4. Differential Analysis of Gly211Val and Gly286Val Mutations Affecting Sarco(endo)plasmic Reticulum Ca2+-ATPase (SERCA1) in Congenital Pseudomyotonia Romagnola Cattle.
    Akyürek EE, Busato F, Murgiano L, Bianchini E, Carotti M, Sandonà D, Drögemüller C, Gentile A, Sacchetto R.
    Int J Mol Sci; 2022 Oct 15; 23(20):. PubMed ID: 36293223
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  • 5. Characterization of cDNA and genomic DNA encoding SERCA1, the Ca(2+)-ATPase of human fast-twitch skeletal muscle sarcoplasmic reticulum, and its elimination as a candidate gene for Brody disease.
    Zhang Y, Fujii J, Phillips MS, Chen HS, Karpati G, Yee WC, Schrank B, Cornblath DR, Boylan KB, MacLennan DH.
    Genomics; 1995 Dec 10; 30(3):415-24. PubMed ID: 8825625
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  • 8. Fast-twitch skeletal muscle fiber adaptation to SERCA1 deficiency in a Dutch Improved Red and White calf pseudomyotonia case.
    Dorotea T, Grünberg W, Murgiano L, Plattet P, Drögemüller C, Mascarello F, Sacchetto R.
    Neuromuscul Disord; 2015 Nov 10; 25(11):888-97. PubMed ID: 26482047
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  • 9. Unloading induces transcriptional activation of the sarco(endo)plasmic reticulum Ca2+-ATPase 1 gene in muscle.
    Peters DG, Mitchell-Felton H, Kandarian SC.
    Am J Physiol; 1999 May 10; 276(5):C1218-25. PubMed ID: 10329971
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  • 11. SERCA1 protein expression in muscle of patients with Brody disease and Brody syndrome and in cultured human muscle fibers.
    Guglielmi V, Vattemi G, Gualandi F, Voermans NC, Marini M, Scotton C, Pegoraro E, Oosterhof A, Kósa M, Zádor E, Valente EM, De Grandis D, Neri M, Codemo V, Novelli A, van Kuppevelt TH, Dallapiccola B, van Engelen BG, Ferlini A, Tomelleri G.
    Mol Genet Metab; 2013 May 10; 110(1-2):162-9. PubMed ID: 23911890
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  • 13. Structural study of skeletal muscle fibres in healthy and pseudomyotonia affected cattle.
    Mascarello F, Sacchetto R.
    Ann Anat; 2016 Sep 10; 207():21-6. PubMed ID: 27210062
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  • 15. Expression of the sarco/endoplasmic reticulum Ca(2+)-transport ATPase protein isoforms during regeneration from notexin-induced necrosis of rat soleus muscle.
    Zádor E, Szakonyi G, Rácz G, Mendler L, Ver Heyen M, Lebacq J, Dux L, Wuytack F.
    Acta Histochem; 1998 Nov 10; 100(4):355-69. PubMed ID: 9842416
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  • 16. accordion, a zebrafish behavioral mutant, has a muscle relaxation defect due to a mutation in the ATPase Ca2+ pump SERCA1.
    Hirata H, Saint-Amant L, Waterbury J, Cui W, Zhou W, Li Q, Goldman D, Granato M, Kuwada JY.
    Development; 2004 Nov 10; 131(21):5457-68. PubMed ID: 15469975
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  • 19. Brody disease: insights into biochemical features of SERCA1 and identification of a novel mutation.
    Vattemi G, Gualandi F, Oosterhof A, Marini M, Tonin P, Rimessi P, Neri M, Guglielmi V, Russignan A, Poli C, van Kuppevelt TH, Ferlini A, Tomelleri G.
    J Neuropathol Exp Neurol; 2010 Mar 10; 69(3):246-52. PubMed ID: 20142766
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