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Volumn 111, Issue 1, 2010, Pages 185-190

Functional properties of RYR1 mutations identified in Swedish patients with malignant hyperthermia and central core disease

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; GENOMIC DNA; RYANODINE RECEPTOR 1; THAPSIGARGIN; 4 CHLORO 2 CRESOL; 4-CHLORO-2-CRESOL; CALCIUM; CRESOL; DIAGNOSTIC AGENT; DNA; MESSENGER RNA; RYANODINE RECEPTOR;

EID: 77954684290     PISSN: 00032999     EISSN: None     Source Type: Journal    
DOI: 10.1213/ANE.0b013e3181cbd815     Document Type: Article
Times cited : (32)

References (30)
  • 1
    • 0034044116 scopus 로고    scopus 로고
    • Malignant hyperthermia. Advances in clinical management and diagnosis
    • Hopkins PM. Malignant hyperthermia. Advances in clinical management and diagnosis. Br J Anaesth 2000;85:118-28
    • (2000) Br. J. Anaesth. , vol.85 , pp. 118-128
    • Hopkins, P.M.1
  • 4
    • 44649184084 scopus 로고    scopus 로고
    • Congenital muscle disorders with cores: The ryanodine receptor calcium channel paradigm
    • Treves S, Jungbluth H, Muntoni F, Zorzato F. Congenital muscle disorders with cores: the ryanodine receptor calcium channel paradigm. Curr Opin Pharmacol 2008;8:319-26
    • (2008) Curr. Opin. Pharmacol. , vol.8 , pp. 319-326
    • Treves, S.1    Jungbluth, H.2    Muntoni, F.3    Zorzato, F.4
  • 7
    • 0023069451 scopus 로고
    • Intracellular calcium homeostasis
    • Carafoli E. Intracellular calcium homeostasis. Ann Rev Biochem 1987;56:395-433
    • (1987) Ann. Rev. Biochem. , vol.56 , pp. 395-433
    • Carafoli, E.1
  • 10
    • 33744955800 scopus 로고    scopus 로고
    • Sarcoplasmic reticulum: The dynamic calcium governor of muscle
    • Rossi AE, Dirksen RT. Sarcoplasmic reticulum: the dynamic calcium governor of muscle. Muscle Nerve 2006;33:715-31
    • (2006) Muscle Nerve , vol.33 , pp. 715-731
    • Rossi, A.E.1    Dirksen, R.T.2
  • 12
    • 0032559585 scopus 로고    scopus 로고
    • Role of ryanodine receptors in the assembly of calcium release units in skeletal muscle
    • Protasi F, Franzini-Armstrong C, Allen PD. Role of ryanodine receptors in the assembly of calcium release units in skeletal muscle. J Cell Biol 1998;140:831-42
    • (1998) J. Cell. Biol. , vol.140 , pp. 831-842
    • Protasi, F.1    Franzini-Armstrong, C.2    Allen, P.D.3
  • 14
    • 0033605332 scopus 로고    scopus 로고
    • Skeletal muscle type ryanodine receptor is involved in calcium signaling in human B lymphocytes
    • Sei Y, Gallagher KL, Basile AS. Skeletal muscle type ryanodine receptor is involved in calcium signaling in human B lymphocytes. J Biol Chem 1999;274:5995-6002
    • (1999) J. Biol. Chem. , vol.274 , pp. 5995-6002
    • Sei, Y.1    Gallagher, K.L.2    Basile, A.S.3
  • 15
    • 0035930557 scopus 로고    scopus 로고
    • B-lymphocytes from malignant hyperthermia-susceptible patients have an increased sensitivity to skeletal muscle ryanodine receptor activators
    • Girard T, Cavagna D, Padovan E, Spagnoli G, Urwuyler A, Zorzato F, Treves S. B-lymphocytes from malignant hyperthermia-susceptible patients have an increased sensitivity to skeletal muscle ryanodine receptor activators. J Biol Chem 2001;276:48077-82
    • (2001) J. Biol. Chem. , vol.276 , pp. 48077-48082
    • Girard, T.1    Cavagna, D.2    Padovan, E.3    Spagnoli, G.4    Urwuyler, A.5    Zorzato, F.6    Treves, S.7
  • 16
    • 66149137664 scopus 로고    scopus 로고
    • Mutation screening of the RYR1-cDNA from peripheral B lymphocytes in 15 Swedish malignant hyperthermia index cases
    • Broman M, Gehrig A, Bodelsson M, Ranklev-Twetman E, Ruffert H, Müller C. Mutation screening of the RYR1-cDNA from peripheral B lymphocytes in 15 Swedish malignant hyperthermia index cases. Br J Anaesth 2009;102:642-9
    • (2009) Br. J. Anaesth. , vol.102 , pp. 642-649
    • Broman, M.1    Gehrig, A.2    Bodelsson, M.3    Ranklev-Twetman, E.4    Ruffert, H.5    Müller, C.6
  • 19
    • 33744956995 scopus 로고    scopus 로고
    • Characterization of ryanodine receptor-mediated calcium release in human B cells: Relevance to diagnostic testing for malignant hyperthermia
    • McKinney LC, Butler T, Mullen SP, Klein MG. Characterization of ryanodine receptor-mediated calcium release in human B cells: relevance to diagnostic testing for malignant hyperthermia. Anesthesiology 2006;104:1191-1201
    • (2006) Anesthesiology , vol.104 , pp. 1191-1201
    • McKinney, L.C.1    Butler, T.2    Mullen, S.P.3    Klein, M.G.4
  • 23
    • 43149117654 scopus 로고    scopus 로고
    • Neuromuscular and mitochondrial disorders: What is relevant to the anaesthesiologist?
    • Driessen J. Neuromuscular and mitochondrial disorders: what is relevant to the anaesthesiologist? Curr Opin Anaesthesiol 2008;21:350-5
    • (2008) Curr. Opin. Anaesthesiol , vol.21 , pp. 350-355
    • Driessen, J.1
  • 24
    • 6344278673 scopus 로고    scopus 로고
    • Effect of ryanodine receptor mutations on IL-6 release and intracellular calcium homeostasis in human myotubes from malignant hyperthermia susceptible individuals and patients affected by central core disease
    • Ducreaux S, Zorzato F, Müller CR, Sewry C, Muntoni F, Quinlivan R, Restagno G, Girard T, Treves S. Effect of ryanodine receptor mutations on IL-6 release and intracellular calcium homeostasis in human myotubes from malignant hyperthermia susceptible individuals and patients affected by central core disease. J Biol Chem 2004;279:43838-46
    • (2004) J. Biol. Chem. , vol.279 , pp. 43838-43846
    • Ducreaux, S.1    Zorzato, F.2    Müller, C.R.3    Sewry, C.4    Muntoni, F.5    Quinlivan, R.6    Restagno, G.7    Girard, T.8    Treves, S.9
  • 25
    • 33645796192 scopus 로고    scopus 로고
    • Functional properties of ryanodine receptors carrying 3 amino acid substitutions identified in patients affected by multi-minicore disease and central core disease, expressed in immortalised lymphocytes
    • Ducreux S, Zorzato F, Ferreiro A, Jungbluth H, Muntoni F, Monnier N, Müller CR, Treves S. Functional properties of ryanodine receptors carrying 3 amino acid substitutions identified in patients affected by multi-minicore disease and central core disease, expressed in immortalised lymphocytes. Biochem J 2006;395:259-66
    • (2006) Biochem. J. , vol.395 , pp. 259-266
    • Ducreux, S.1    Zorzato, F.2    Ferreiro, A.3    Jungbluth, H.4    Muntoni, F.5    Monnier, N.6    Müller, C.R.7    Treves, S.8
  • 26
    • 38549167375 scopus 로고    scopus 로고
    • Identification and biochemical characterization of a novel ryanodine receptor gene mutation associated with malignant hyperthermia
    • Anderson AA, Brown RL, Polster B, Pollock N, Stowell KM. Identification and biochemical characterization of a novel ryanodine receptor gene mutation associated with malignant hyperthermia. Anesthesiology 2008;108:208-15
    • (2008) Anesthesiology , vol.108 , pp. 208-215
    • Anderson, A.A.1    Brown, R.L.2    Polster, B.3    Pollock, N.4    Stowell, K.M.5
  • 29
    • 4544330774 scopus 로고    scopus 로고
    • Functional analysis of the R1068H malignant hyperthermia mutation in the DHPR reveals an unexpected influence of the III-IV loop on skeletal muscle EC coupling
    • Weiss R, O'Connell K, Flucher B, Allen P, Grabner M, Dirksen R. Functional analysis of the R1068H malignant hyperthermia mutation in the DHPR reveals an unexpected influence of the III-IV loop on skeletal muscle EC coupling. Am J Physiol Cell Physiol 2004;287:1094-102
    • (2004) Am. J. Physiol. Cell. Physiol. , vol.287 , pp. 1094-1102
    • Weiss, R.1    O'Connell, K.2    Flucher, B.3    Allen, P.4    Grabner, M.5    Dirksen, R.6
  • 30
    • 0035145133 scopus 로고    scopus 로고
    • Guidelines for molecular genetic detection of susceptibility to malignant hyperthermia
    • Urwyler A, Deufel T, McCarthy T, West S. Guidelines for molecular genetic detection of susceptibility to malignant hyperthermia. Br J Anaesth 2001;86:283-7
    • (2001) Br. J. Anaesth. , vol.86 , pp. 283-287
    • Urwyler, A.1    Deufel, T.2    McCarthy, T.3    West, S.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.