Dirksen RT - Search Results

1

Reduced threshold for store overload-induced Ca²⁺ release is a common defect of RyR1 mutations associated with malignant hyperthermia and central core disease.

Chen W, Koop A, Liu Y, Guo W, Wei J, Wang R, MacLennan DH, Dirksen RT, Chen SRW. Chen W, et al. Among authors: dirksen rt. Biochem J. 2017 Aug 7;474(16):2749-2761. doi: 10.1042/BCJ20170282. Biochem J. 2017. PMID: 28687594 Free PMC article.

2

Excitation--contraction uncoupling by a human central core disease mutation in the ryanodine receptor.

Avila G, O'Brien JJ, Dirksen RT. Avila G, et al. Among authors: dirksen rt. Proc Natl Acad Sci U S A. 2001 Mar 27;98(7):4215-20. doi: 10.1073/pnas.071048198. Proc Natl Acad Sci U S A. 2001. PMID: 11274444 Free PMC article.

3

Functional effects of central core disease mutations in the cytoplasmic region of the skeletal muscle ryanodine receptor.

Avila G, Dirksen RT. Avila G, et al. Among authors: dirksen rt. J Gen Physiol. 2001 Sep;118(3):277-90. doi: 10.1085/jgp.118.3.277. J Gen Physiol. 2001. PMID: 11524458 Free PMC article.

4

Altered ryanodine receptor function in central core disease: leaky or uncoupled Ca(2+) release channels?

Dirksen RT, Avila G. Dirksen RT, et al. Trends Cardiovasc Med. 2002 Jul;12(5):189-97. doi: 10.1016/s1050-1738(02)00163-9. Trends Cardiovasc Med. 2002. PMID: 12161072 Review.

5

Role of the sequence surrounding predicted transmembrane helix M4 in membrane association and function of the Ca(2+) release channel of skeletal muscle sarcoplasmic reticulum (ryanodine receptor isoform 1).

Du GG, Avila G, Sharma P, Khanna VK, Dirksen RT, MacLennan DH. Du GG, et al. Among authors: dirksen rt. J Biol Chem. 2004 Sep 3;279(36):37566-74. doi: 10.1074/jbc.M406637200. Epub 2004 Jun 28. J Biol Chem. 2004. PMID: 15226293 Free article.

6

Dynamic alterations in myoplasmic Ca2+ in malignant hyperthermia and central core disease.

Lyfenko AD, Goonasekera SA, Dirksen RT. Lyfenko AD, et al. Among authors: dirksen rt. Biochem Biophys Res Commun. 2004 Oct 1;322(4):1256-66. doi: 10.1016/j.bbrc.2004.08.031. Biochem Biophys Res Commun. 2004. PMID: 15336973 Review.

7

Distinct effects on Ca2+ handling caused by malignant hyperthermia and central core disease mutations in RyR1.

Dirksen RT, Avila G. Dirksen RT, et al. Biophys J. 2004 Nov;87(5):3193-204. doi: 10.1529/biophysj.104.048447. Epub 2004 Sep 3. Biophys J. 2004. PMID: 15347586 Free PMC article.

8

Two central core disease (CCD) deletions in the C-terminal region of RYR1 alter muscle excitation-contraction (EC) coupling by distinct mechanisms.

Lyfenko AD, Ducreux S, Wang Y, Xu L, Zorzato F, Ferreiro A, Meissner G, Treves S, Dirksen RT. Lyfenko AD, et al. Among authors: dirksen rt. Hum Mutat. 2007 Jan;28(1):61-8. doi: 10.1002/humu.20409. Hum Mutat. 2007. PMID: 16958053

9

A variably spliced region in the type 1 ryanodine receptor may participate in an inter-domain interaction.

Kimura T, Pace SM, Wei L, Beard NA, Dirksen RT, Dulhunty AF. Kimura T, et al. Among authors: dirksen rt. Biochem J. 2007 Jan 1;401(1):317-24. doi: 10.1042/BJ20060686. Biochem J. 2007. PMID: 16989644 Free PMC article.

10

An Ryr1I4895T mutation abolishes Ca2+ release channel function and delays development in homozygous offspring of a mutant mouse line.

Zvaritch E, Depreux F, Kraeva N, Loy RE, Goonasekera SA, Boncompagni S, Kraev A, Gramolini AO, Dirksen RT, Franzini-Armstrong C, Seidman CE, Seidman JG, Maclennan DH. Zvaritch E, et al. Among authors: dirksen rt. Proc Natl Acad Sci U S A. 2007 Nov 20;104(47):18537-42. doi: 10.1073/pnas.0709312104. Epub 2007 Nov 14. Proc Natl Acad Sci U S A. 2007. PMID: 18003898 Free PMC article.

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