Quantitative proteomic analysis of skeletal muscles from wild-type and transgenic mice carrying recessive Ryr1 mutations linked to congenital myopathies
Eckhardt, Jan, Ruiz, Alexis, Koenig, Stéphane, Frieden, Maud, Meier, Hervé, Schmidt, Alexander, Treves, Susan, Zorzato, Francesco
Published in eLife (02.03.2023)
Published in eLife (02.03.2023)
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Journal Article
Extraocular muscle function is impaired in ryr3 -/- mice
Eckhardt, Jan, Bachmann, Christoph, Sekulic-Jablanovic, Marijana, Enzmann, Volker, Park, Ki Ho, Ma, Jianjie, Takeshima, Hiroshi, Zorzato, Francesco, Treves, Susan
Published in The Journal of general physiology (01.07.2019)
Published in The Journal of general physiology (01.07.2019)
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Journal Article
Postnatal Development of Right Ventricular Myofibrillar Biomechanics in Relation to the Sarcomeric Protein Phenotype in Pediatric Patients with Conotruncal Heart Defects
Elhamine, Fatiha, Iorga, Bogdan, Krüger, Martina, Hunger, Mona, Eckhardt, Jan, Sreeram, Narayanswami, Bennink, Gerardus, Brockmeier, Konrad, Pfitzer, Gabriele, Stehle, Robert
Published in Journal of the American Heart Association (01.06.2016)
Published in Journal of the American Heart Association (01.06.2016)
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Journal Article
Molecular basis of impaired muscle function in a mouse model of congenital myopathy due to compound heterozygous RYR1 mutations: Calcium Signaling and Excitation–Contraction in Cardiac, Skeletal and Smooth Muscle
Ruiz, Alexis, Eckhardt, Jan, Treves, Susan, Zorzato, Francesco
Published in The Journal of general physiology (01.09.2022)
Published in The Journal of general physiology (01.09.2022)
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Journal Article
Characterization of an Animal Model for Congenital Myopathies Linked to Recessive RyR1 Mutations
Elbaz, Moran, Ruiz, Alexis, Eckhardt, Jan, Treves, Susan, Zorzato, Francesco
Published in Biophysical journal (15.02.2019)
Published in Biophysical journal (15.02.2019)
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Journal Article
Molecular basis of impaired extraocular muscle function in a mouse model of congenital myopathy due to compound heterozygous Ryr1 mutations
Eckhardt, Jan, Bachmann, Christoph, Benucci, Sofia, Elbaz, Moran, Ruiz, Alexis, Zorzato, Francesco, Treves, Susan
Published in Human molecular genetics (28.05.2020)
Published in Human molecular genetics (28.05.2020)
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Journal Article
Quantitative reduction of RyR1 protein caused by a single-allele frameshift mutation in RYR1 ex36 impairs the strength of adult skeletal muscle fibres
Elbaz, Moran, Ruiz, Alexis, Eckhardt, Jan, Pelczar, Pawel, Muntoni, Francesco, Boncompagni, Simona, Treves, Susan, Zorzato, Francesco
Published in Human molecular genetics (01.06.2019)
Published in Human molecular genetics (01.06.2019)
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Journal Article
Bi-allelic expression of the RyR1 p.A4329D mutation decreases muscle strength in slow-twitch muscles in mice
Elbaz, Moran, Ruiz, Alexis, Nicolay, Sven, Tupini, Chiara, Bachmann, Christoph, Eckhardt, Jan, Benucci, Sofia, Pelczar, Pawel, Treves, Susan, Zorzato, Francesco
Published in The Journal of biological chemistry (24.07.2020)
Published in The Journal of biological chemistry (24.07.2020)
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Journal Article
Biochemical and Mechanical Properties of Murine Extraocular Muscles
Eckhardt, Jan, Sekulic-Jablanovic, Marijana, Treves, Susan, Zorzato, Francesco
Published in Biophysical journal (03.02.2017)
Published in Biophysical journal (03.02.2017)
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Journal Article
Quantitative RyR1 reduction and loss of calcium sensitivity of RyR1Q1970fsX16+A4329D cause cores and loss of muscle strength
Elbaz, Moran, Ruiz, Alexis, Bachmann, Christoph, Eckhardt, Jan, Pelczar, Pawel, Venturi, Elisa, Lindsay, Chris, Wilson, Abigail D, Alhussni, Ahmed, Humberstone, Thomas, Pietrangelo, Laura, Boncompagni, Simona, Sitsapesan, Rebecca, Treves, Susan, Zorzato, Francesco
Published in Human molecular genetics (15.09.2019)
Published in Human molecular genetics (15.09.2019)
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Journal Article
Altered Eye Muscle Function in RYR3KO Mice
Eckhardt, Jan, Takeshima, Hiroshi, Nishi, Miyuki, Ma, Jianjie, Zorzato, Francesco, Treves, Susan
Published in Biophysical journal (02.02.2018)
Published in Biophysical journal (02.02.2018)
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Journal Article
Role of the JP45-Calsequestrin Complex on Calcium Entry in Slow Twitch Skeletal Muscles
Mosca, Barbara, Eckhardt, Jan, Bergamelli, Leda, Treves, Susan, Bongianino, Rossana, De Negri, Marco, Priori, Silvia G., Protasi, Feliciano, Zorzato, Francesco
Published in The Journal of biological chemistry (08.07.2016)
Published in The Journal of biological chemistry (08.07.2016)
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Journal Article
Role of the JP45-Calsequestrin Complex on Calcium Entry in Slow Twitch Skeletal Muscles<inline-graphic xlink:href="sbox.jpg"/>
Mosca, Barbara, Eckhardt, Jan, Bergamelli, Leda, Treves, Susan, Bongianino, Rossana, De Negri, Marco, Priori, Silvia G, Protasi, Feliciano, Zorzato, Francesco
Published in The Journal of biological chemistry (04.05.2016)
Published in The Journal of biological chemistry (04.05.2016)
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Journal Article
Role of the JP45-calsequestrin complex on calcium entry in slow twitch skeletal muscles
Mosca, Barbara, Eckhardt, Jan, Bergamelli, Leda, Treves, Susan, Bongianino, Rossana, De Negri, Marco, Priori, Silvia G., Protasi, Feliciano, Zorzato, Francesco
Published in The Journal of biological chemistry (23.09.2016)
Published in The Journal of biological chemistry (23.09.2016)
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Journal Article