The Skeletal Muscle Calcium-Release Channel Visualised By Electron Cryomicroscopy and Angular Reconstitution

1998 ◽  
pp. 23-46 ◽  
Author(s):  
Elena V. Orlova ◽  
Irina I. Serysheva ◽  
Susan L. Hamilton ◽  
Wah Chiu ◽  
Marin van Heel
Keyword(s):  
Skeletal Muscle ◽  
Calcium Release ◽  
Electron Cryomicroscopy ◽  
Calcium Release Channel ◽  
Release Channel ◽  
Muscle Calcium

Electron cryomicroscopy and angular reconstitution used to visualize the skeletal muscle calcium release channel

1995 ◽  
Vol 2 (1) ◽  
pp. 18-24 ◽  
Author(s):  
Irina I. Serysheva ◽  
Elena V. Orlova ◽  
Wah Chiu ◽  
Michael B. Sherman ◽  
Susan L. Hamilton ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Calcium Release ◽  
Electron Cryomicroscopy ◽  
Calcium Release Channel ◽  
Release Channel ◽  
Muscle Calcium

scholarly journals The Skeletal Muscle Calcium Release Channel

Cell ◽  
2000 ◽  
Vol 102 (4) ◽  
pp. 499-509 ◽  
Author(s):  
Jerry P Eu ◽  
Junhui Sun ◽  
Le Xu ◽  
Jonathan S Stamler ◽  
Gerhard Meissner
Keyword(s):  
Skeletal Muscle ◽  
Calcium Release ◽  
Calcium Release Channel ◽  
Release Channel ◽  
Muscle Calcium

Two structural configurations of the skeletal muscle calcium release channel

1996 ◽  
Vol 3 (6) ◽  
pp. 547-552 ◽  
Author(s):  
Elena V. Orlova ◽  
Irina I. Serysheva ◽  
Marin van Heel ◽  
Susan L. Hamilton ◽  
Wah Chiu
Keyword(s):  
Skeletal Muscle ◽  
Calcium Release ◽  
Calcium Release Channel ◽  
Release Channel ◽  
Structural Configurations ◽  
Muscle Calcium

scholarly journals Structure of the Skeletal Muscle Calcium Release Channel Activated with Ca2+ and AMP-PCP

1999 ◽  
Vol 77 (4) ◽  
pp. 1936-1944 ◽  
Author(s):  
I.I. Serysheva ◽  
M. Schatz ◽  
M. van Heel ◽  
W. Chiu ◽  
S.L. Hamilton
Keyword(s):  
Skeletal Muscle ◽  
Calcium Release ◽  
Calcium Release Channel ◽  
Release Channel ◽  
Muscle Calcium

scholarly journals Classes of Thiols That Influence the Activity of the Skeletal Muscle Calcium Release Channel

2001 ◽  
Vol 276 (19) ◽  
pp. 15625-15630 ◽  
Author(s):  
Junhui Sun ◽  
Le Xu ◽  
Jerry P. Eu ◽  
Jonathan S. Stamler ◽  
Gerhard Meissner
Keyword(s):  
Skeletal Muscle ◽  
Calcium Release ◽  
Calcium Release Channel ◽  
Release Channel ◽  
Muscle Calcium

Autosomal Dominant Canine Malignant Hyperthermia Is Caused by a Mutation in the Gene Encoding the Skeletal Muscle Calcium Release Channel (RYR1 )

2001 ◽  
Vol 95 (3) ◽  
pp. 716-725 ◽  
Author(s):  
Monica C. Roberts ◽  
James R. Mickelson ◽  
Edward E. Patterson ◽  
Thomas E. Nelson ◽  
P. Jane Armstrong ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Calcium Release ◽  
Autosomal Dominant ◽  
Calcium Release Channel ◽  
Gene Encoding ◽  
Release Channel ◽  
In Vitro Contracture Test ◽  
Mixed Breed ◽  
Muscle Calcium

Background Malignant hyperthermia (MH) is an inherited disorder of skeletal muscle characterized by hypercarbia, rhabdomyolysis, generalized skeletal muscle contracture, cardiac dysrhythmia, and renal failure, that develops on exposure to succinylcholine or volatile anesthetic agents. All swine and up to 50% of human MH events are thought to be associated with mutations in the calcium release channel of the sarcoplasmic reticulum, also known as the ryanodine receptor (RYR1). Events resembling MH have been reported in other species, but none have undergone genetic investigation to date. Methods To determine the molecular basis of canine MH, a breeding colony was established with a male, mixed-breed, MH-susceptible (MHS) dog that survived an in vivo halothane-succinylcholine challenge. He was mated to three unaffected females to produce four litters and back-crossed to an affected daughter to produce one litter. One of his MHS sons was mated to an unaffected female to produce an additional litter. Forty-seven dogs were phenotyped with an in vitro contracture test and diagnosed as MHS or MH normal based on the North American in vitro contracture test protocol. Nine microsatellite markers in the vicinity of RYR1 on canine chromosome 1 (CFA01) were tested for linkage to the MHS phenotype. Mutational analysis in two MHS and two MH-normal dogs was performed with direct sequencing of polymerase chain reaction products and of cloned fragments that represent frequently mutated human RYR1 regions. A restriction fragment length polymorphism was chosen to detect the candidate mutation in the pedigree at large. Results Pedigree inspection revealed that MHS in this colony is transmitted as an autosomal dominant trait. FH2294, the marker closest to RYR1, is linked to MHS at a theta = 0.03 with a LOD score of 9.24. A T1640C mutation gives rise to an alanine for valine substitution of amino acid 547 in the RYR1 protein, generating a maximum LOD score of 12.29 at theta = 0.00. All dogs diagnosed as MHS by in vitro contracture test were heterozygous for the mutation, and all MH-normal dogs were homozygous for the T1640 allele. Conclusions These results indicate that autosomal dominant canine MH is caused by a mutation in the gene encoding the skeletal muscle calcium release channel and that the MHS trait in this pedigree of mixed-breed dogs is in perfect cosegregation with the RYR1 V547A mutation.

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