[1]
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NUCLEOTIDE SEQUENCE [MRNA].
TISSUE=Skeletal muscle;
DOI=10.1016/S0014-5793(97)01108-3; PubMed=9350988 [NCBI, ExPASy, EBI, Israel, Japan]
Valle G.,
Faulkner G.,
de Antoni A.,
Pacchioni B.,
Pallavicini A.,
Pandolfo D.,
Tiso N.,
Toppo S.,
Trevisan S.,
Lanfranchi G.;
"Telethonin, a novel sarcomeric protein of heart and skeletal muscle.";
FEBS Lett. 415:163-168(1997).
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[2]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA].
Pallavicini A.,
Valle G.,
Lanfranchi G.;
"Human telethonin genomic sequence.";
Submitted (AUG-1998) to the EMBL/GenBank/DDBJ databases.
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[3]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA].
Mues A.,
Gautel M.;
"Structure of the human telethonin gene.";
Submitted (SEP-1998) to the EMBL/GenBank/DDBJ databases.
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[4]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT HIS-74.
TISSUE=Prostate;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
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[5]
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INTERACTION WITH TTN.
DOI=10.1016/S0014-5793(98)00501-8; PubMed=9645487 [NCBI, ExPASy, EBI, Israel, Japan]
Mues A.,
van der Ven P.F.M.,
Young P.,
Furst D.O.,
Gautel M.;
"Two immunoglobulin-like domains of the Z-disc portion of titin interact in a conformation-dependent way with telethonin.";
FEBS Lett. 428:111-114(1998).
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[6]
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INTERACTION WITH MYOZ1.
DOI=10.1074/jbc.M007493200; PubMed=10984498 [NCBI, ExPASy, EBI, Israel, Japan]
Faulkner G.,
Pallavicini A.,
Comelli A.,
Salamon M.,
Bortoletto G.,
Ievolella C.,
Trevisan S.,
Kojic' S.,
Dalla Vecchia F.,
Laveder P.,
Valle G.,
Lanfranchi G.;
"FATZ, a filamin-, actinin-, and telethonin-binding protein of the Z-disc of skeletal muscle.";
J. Biol. Chem. 275:41234-41242(2000).
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[7]
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INTERACTION WITH MYOZ3.
DOI=10.1074/jbc.M200712200; PubMed=11842093 [NCBI, ExPASy, EBI, Israel, Japan]
Frey N.,
Olson E.N.;
"Calsarcin-3, a novel skeletal muscle-specific member of the calsarcin family, interacts with multiple Z-disc proteins.";
J. Biol. Chem. 277:13998-14004(2002).
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[8]
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X-RAY CRYSTALLOGRAPHY (2.44 ANGSTROMS) OF 1-90 IN COMPLEX WITH TTN.
DOI=10.1038/nature04343; PubMed=16407954 [NCBI, ExPASy, EBI, Israel, Japan]
Zou P.,
Pinotsis N.,
Lange S.,
Song Y.-H.,
Popov A.,
Mavridis I.,
Mayans O.M.,
Gautel M.,
Wilmanns M.;
"Palindromic assembly of the giant muscle protein titin in the sarcomeric Z-disk.";
Nature 439:229-233(2006).
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[9]
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X-RAY CRYSTALLOGRAPHY (2.75 ANGSTROMS) IN COMPLEX WITH TTN, AND SUBCELLULAR LOCATION.
DOI=10.1016/j.jsb.2006.03.028; PubMed=16713295 [NCBI, ExPASy, EBI, Israel, Japan]
Pinotsis N.,
Petoukhov M.,
Lange S.,
Svergun D.,
Zou P.,
Gautel M.,
Wilmanns M.;
"Evidence for a dimeric assembly of two titin/telethonin complexes induced by the telethonin C-terminus.";
J. Struct. Biol. 155:239-250(2006).
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[10]
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INVOLVEMENT IN LGMD2G.
DOI=10.1038/72822; PubMed=10655062 [NCBI, ExPASy, EBI, Israel, Japan]
Moreira E.S.,
Wiltshire T.J.,
Faulkner G.,
Nilforoushan A.,
Vainzof M.,
Suzuki O.T.,
Valle G.,
Reeves R.,
Zatz M.,
Passos-Bueno M.R.,
Jenne D.E.;
"Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin.";
Nat. Genet. 24:163-166(2000).
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[11]
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VARIANT CMD1N GLN-87.
DOI=10.1016/S0092-8674(02)01226-6; PubMed=12507422 [NCBI, ExPASy, EBI, Israel, Japan]
Knoell R.,
Hoshijima M.,
Hoffman H.M.,
Person V.,
Lorenzen-Schmidt I.,
Bang M.-L.,
Hayashi T.,
Shiga N.,
Yasukawa H.,
Schaper W.,
McKenna W.,
Yokoyama M.,
Schork N.J.,
Omens J.H.,
McCulloch A.D.,
Kimura A.,
Gregorio C.C.,
Poller W.,
Schaper J., ![]()
Schultheiss H.P.,
Chien K.R.;
"The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy.";
Cell 111:943-955(2002).
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[12]
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VARIANTS CMD1N TRP-70 AND LEU-90, AND VARIANT GLU-13 DEL.
DOI=10.1016/j.ymgme.2005.10.008; PubMed=16352453 [NCBI, ExPASy, EBI, Israel, Japan]
Bos J.M.,
Poley R.N.,
Ny M.,
Tester D.J.,
Xu X.,
Vatta M.,
Towbin J.A.,
Gersh B.J.,
Ommen S.R.,
Ackerman M.J.;
"Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin.";
Mol. Genet. Metab. 88:78-85(2006).
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[13]
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VARIANT GLU-13 DEL.
DOI=10.1016/j.ymgme.2006.01.004; PubMed=16490376 [NCBI, ExPASy, EBI, Israel, Japan]
Perrot A.,
Posch M.G.,
Osterziel K.J.;
"Deletion of Glu at codon 13 in the TCAP gene encoding the Z-disc protein titin-cap/telethonin is a rare non-synonymous polymorphism.";
Mol. Genet. Metab. 88:199-200(2006).
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[14]
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VARIANT GLU-13 DEL.
DOI=10.1016/j.ymgme.2006.03.012; PubMed=16650785 [NCBI, ExPASy, EBI, Israel, Japan]
Marziliano N.,
Pilotto A.,
Grasso M.,
Pasotti M.,
Arbustini E.;
"Deletion of Glu at codon 13 of the TCAP gene encoding the titin-cap-telethonin is a rare polymorphism in a large Italian population.";
Mol. Genet. Metab. 89:286-287(2006).
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[15]
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VARIANTS CMH ILE-137 AND HIS-153, VARIANT CMD1N GLN-132, CHARACTERIZATION OF VARIANTS CMH ILE-137 AND HIS-153, AND CHARACTERIZATION OF VARIANT CMD1N GLN-132.
DOI=10.1016/j.jacc.2004.08.058; PubMed=15582318 [NCBI, ExPASy, EBI, Israel, Japan]
Hayashi T.,
Arimura T.,
Itoh-Satoh M.,
Ueda K.,
Hohda S.,
Inagaki N.,
Takahashi M.,
Hori H.,
Yasunami M.,
Nishi H.,
Koga Y.,
Nakamura H.,
Matsuzaki M.,
Choi B.Y.,
Bae S.W.,
You C.W.,
Han K.H.,
Park J.E.,
Knoell R., ![]()
Hoshijima M.,
Chien K.R.,
Kimura A.;
"Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy.";
J. Am. Coll. Cardiol. 44:2192-2201(2004).
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