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Cytoskeletal protein kinases: titin and its relations in mechanosensing
Cytoskeletal protein kinases: titin and its relations in mechanosensing
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Cytoskeletal protein kinases: titin and its relations in mechanosensing

Gautel, Mathias

Pflügers Archiv, 2011-07, Vol.462 (1), p.119-134 [Periódico revisado por pares]

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2
Functional analysis of a gene-edited mouse model to gain insights into the disease mechanisms of a titin missense variant
Functional analysis of a gene-edited mouse model to gain insights into the disease mechanisms of a titin missense variant
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Functional analysis of a gene-edited mouse model to gain insights into the disease mechanisms of a titin missense variant

Jiang, He ; Hooper, Charlotte ; Kelly, Matthew ; Steeples, Violetta ; Simon, Jillian N. ; Beglov, Julia ; Azad, Amar J. ; Leinhos, Lisa ; Bennett, Pauline ; Ehler, Elisabeth ; Kalisch-Smith, Jacinta I. ; Sparrow, Duncan B. ; Fischer, Roman ; Heilig, Raphael ; Isackson, Henrik ; Ehsan, Mehroz ; Patone, Giannino ; Huebner, Norbert ; Davies, Benjamin ; Watkins, Hugh ; Gehmlich, Katja

Basic research in cardiology, 2021-12, Vol.116 (1), p.14, Article 14 [Periódico revisado por pares]

Berlin/Heidelberg: Springer Berlin Heidelberg

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3
Telethonin-deficiency initially presenting as a congenital muscular dystrophy
Telethonin-deficiency initially presenting as a congenital muscular dystrophy
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Telethonin-deficiency initially presenting as a congenital muscular dystrophy

Ferreiro, Ana ; Mezmezian, Monica ; Olivé, Montse ; Herlicoviez, Danielle ; Fardeau, Michel ; Richard, Pascale ; Romero, Norma Beatriz

Neuromuscular disorders : NMD, 2011-06, Vol.21 (6), p.433-438 [Periódico revisado por pares]

England: Elsevier B.V

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4
Genotype–phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin
Genotype–phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin
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Genotype–phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin

Bos, J. Martijn ; Poley, Rainer N. ; Ny, Melissa ; Tester, David J. ; Xu, Xiaolei ; Vatta, Matteo ; Towbin, Jeffrey A. ; Gersh, Bernard J. ; Ommen, Steve R. ; Ackerman, Michael J.

Molecular genetics and metabolism, 2006-05, Vol.88 (1), p.78-85 [Periódico revisado por pares]

United States: Elsevier Inc

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5
Titin Mutations as the Molecular Basis for Dilated Cardiomyopathy
Titin Mutations as the Molecular Basis for Dilated Cardiomyopathy
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Titin Mutations as the Molecular Basis for Dilated Cardiomyopathy

Itoh-Satoh, Manatsu ; Hayashi, Takeharu ; Nishi, Hirofumi ; Koga, Yoshinori ; Arimura, Takuro ; Koyanagi, Takeshi ; Takahashi, Megumi ; Hohda, Shigeru ; Ueda, Kazuo ; Nouchi, Tatsuhito ; Hiroe, Michiaki ; Marumo, Fumiaki ; Imaizumi, Tsutomu ; Yasunami, Michio ; Kimura, Akinori

Biochemical and biophysical research communications, 2002-02, Vol.291 (2), p.385-393 [Periódico revisado por pares]

United States: Elsevier Inc

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6
Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin
Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin
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Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin

Reeves, Roger ; Faulkner, Georgine ; Wiltshire, Tim J ; Vainzof, Mariz ; Valle, Giorgio ; Moreira, Eloisa S ; Nilforoushan, Antje ; Passos-Bueno, M. R ; Suzuki, Oscar T ; Jenne, Dieter E ; Zatz, Mayana

Nature genetics, 2000-02, Vol.24 (2), p.163-166 [Periódico revisado por pares]

London: Nature Publishing Group

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7
Transcription-terminating mutation in telethonin causing autosomal recessive muscular dystrophy type 2G in a European patient
Transcription-terminating mutation in telethonin causing autosomal recessive muscular dystrophy type 2G in a European patient
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Transcription-terminating mutation in telethonin causing autosomal recessive muscular dystrophy type 2G in a European patient

Olivé, Montse ; Shatunov, Alexey ; Gonzalez, Laura ; Carmona, Olga ; Moreno, Dolores ; Quereda, Lidia Gonzalez ; Martinez-Matos, J.A ; Goldfarb, Lev G ; Ferrer, Isidro

Neuromuscular disorders : NMD, 2008-12, Vol.18 (12), p.929-933 [Periódico revisado por pares]

England: Elsevier B.V

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8
Specific interaction of the potassium channel β-subunit minK with the sarcomeric protein T-cap suggests a T-tubule-myofibril linking system
Specific interaction of the potassium channel β-subunit minK with the sarcomeric protein T-cap suggests a T-tubule-myofibril linking system
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Specific interaction of the potassium channel β-subunit minK with the sarcomeric protein T-cap suggests a T-tubule-myofibril linking system

Furukawa, Tetsushi ; Ono, Yasuko ; Tsuchiya, Hiroyuki ; Katayama, Yoshifumi ; Bang, Marie-Louise ; Labeit, Dietmar ; Labeit, Siegfried ; Inagaki, Nobuya ; Gregorio, Carol C

Journal of molecular biology, 2001-11, Vol.313 (4), p.775-784 [Periódico revisado por pares]

England: Elsevier Ltd

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9
Two immunoglobulin-like domains of the Z-disc portion of titin interact in a conformation-dependent way with telethonin
Two immunoglobulin-like domains of the Z-disc portion of titin interact in a conformation-dependent way with telethonin
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Two immunoglobulin-like domains of the Z-disc portion of titin interact in a conformation-dependent way with telethonin

Mues, Alexander ; van der Ven, Peter F.M ; Young, Paul ; Fürst, Dieter O ; Gautel, Mathias

FEBS letters, 1998-05, Vol.428 (1), p.111-114 [Periódico revisado por pares]

England: Elsevier B.V

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10
Limb-girdle muscular dystrophy in a Portuguese patient caused by a mutation in the telethonin gene
Limb-girdle muscular dystrophy in a Portuguese patient caused by a mutation in the telethonin gene
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Limb-girdle muscular dystrophy in a Portuguese patient caused by a mutation in the telethonin gene

Negrão, L ; Matos, A ; Geraldo, A ; Rebelo, O

Acta myologica, 2010-07, Vol.29 (1), p.21-24 [Periódico revisado por pares]

Italy: Pacini Editore SpA

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