(Q24315482)

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Structure/function analysis of the Ca2+ binding and translocation domain of SERCA1 and the role in Brody disease of the ATP2A1 gene encoding SERCA1

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scholarly article

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Structure/function analysis of the Ca2+ binding and translocation domain of SERCA1 and the role in Brody disease of the ATP2A1 gene encoding SERCA1 (English)

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ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1

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GOA release 2020-03-11

author name string

D H MacLennan

1

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W J Rice

2

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A Odermatt

3

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language of work or name

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publication date

3 November 1997

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Annals of the New York Academy of Sciences

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834

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175-85

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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

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Mutations in the gene-encoding SERCA1, the fast-twitch skeletal muscle sarcoplasmic reticulum Ca2+ ATPase, are associated with Brody disease

1 reference

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Two Ca2+ ATPase genes: homologies and mechanistic implications of deduced amino acid sequences

1 reference

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Location of high affinity Ca2+-binding sites within the predicted transmembrane domain of the sarcoplasmic reticulum Ca2+-ATPase

1 reference

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The phosphorylated ribosomal protein S7 in Tetrahymena is homologous with mammalian S4 and the phosphorylated residues are located in the C-terminal region. Structural characterization of proteins separated by two-dimensional polyacrylamide gel elec

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Short and long range functions of amino acids in the transmembrane region of the sarcoplasmic reticulum ATPase. A mutational study

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Energy Interconversion by the Ca2+-Dependent ATPase of the Sarcoplasmic Reticulum

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Amino-acid sequence of a Ca2+ + Mg2+-dependent ATPase from rabbit muscle sarcoplasmic reticulum, deduced from its complementary DNA sequence.

1 reference

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Three-dimensional cryo-electron microscopy of the calcium ion pump in the sarcoplasmic reticulum membrane

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Ischaemic forearm testing in a patient with Ca(2+)-ATPase deficiency

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Integration of transcript and genetic maps of chromosome 16 at near-1-Mb resolution: demonstration of a "hot spot" for recombination at 16p12.

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The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

1 reference

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Capacitative calcium entry

1 reference

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Myopathy caused by a deficiency of Ca2+-adenosine triphosphatase in sarcoplasmic reticulum (Brody's disease)

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Molecular tools to elucidate problems in excitation-contraction coupling

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Control of muscle contraction

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Muscle contracture induced by exercise. A syndrome attributable to decreased relaxing factor

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Mutation of aspartic acid-351, lysine-352, and lysine-515 alters the Ca2+ transport activity of the Ca2+-ATPase expressed in COS-1 cells

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Scanning mutagenesis reveals a similar pattern of mutation sensitivity in transmembrane sequences M4, M5, and M6, but not in M8, of the Ca2+-ATPase of sarcoplasmic reticulum (SERCA1a)

1 reference

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Metabolic rates of minke whales (Balaenoptera acutorostrata) in cold water

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Ca2+-ATPase deficiency in a patient with an exertional muscle pain syndrome

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Exertional rhabdomyolysis in a patient with calcium adenosine triphosphatase deficiency.

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Localization and quantification of endoplasmic reticulum Ca(2+)-ATPase isoform transcripts

1 reference

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Ca2+ homeostasis in Brody's disease. A study in skeletal muscle and cultured muscle cells and the effects of dantrolene an verapamil

1 reference

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Sarcoplasmic reticulum adenosine triphosphatase deficiency with probable autosomal dominant inheritance

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Identifiers

10.1111/J.1749-6632.1997.TB52249.X

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