IACTN2/I Mutant Causes Proteopathy in Human iPSC-Derived Cardiomyocytes
IACTN2/I Mutant Causes Proteopathy in Human iPSC-Derived Cardiomyocytes
About this item
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Author / Creator
Zech, Antonia T. L , Prondzynski, Maksymilian , Singh, Sonia R , Pietsch, Niels , Orthey, Ellen , Alizoti, Erda , Busch, Josefine , Madsen, Alexandra , Behrens, Charlotta S , Meyer-Jens, Moritz , Mearini, Giulia , Lemoine, Marc D , Krämer, Elisabeth , Mosqueira, Diogo , Virdi, Sanamjeet , Indenbirken, Daniela , Depke, Maren , Salazar, Manuela Gesell , Völker, Uwe , Braren, Ingke , Pu, William T , Eschenhagen, Thomas , Hammer, Elke , Schlossarek, Saskia and Carrier, Lucie
Publisher
MDPI AG
Journal title
Language
English
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Publication information
Publisher
MDPI AG
Subjects
More information
Scope and Contents
Contents
Genetic variants in α-actinin-2 (ACTN2) are associated with several forms of (cardio)myopathy. We previously reported a heterozygous missense (c.740C>T) ACTN2 gene variant, associated with hypertrophic cardiomyopathy, and characterized by an electro-mechanical phenotype in human induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CMs). Here...
Alternative Titles
Full title
IACTN2/I Mutant Causes Proteopathy in Human iPSC-Derived Cardiomyocytes
Authors, Artists and Contributors
Author / Creator
Prondzynski, Maksymilian
Singh, Sonia R
Pietsch, Niels
Orthey, Ellen
Alizoti, Erda
Busch, Josefine
Madsen, Alexandra
Behrens, Charlotta S
Meyer-Jens, Moritz
Mearini, Giulia
Lemoine, Marc D
Krämer, Elisabeth
Mosqueira, Diogo
Virdi, Sanamjeet
Indenbirken, Daniela
Depke, Maren
Salazar, Manuela Gesell
Völker, Uwe
Braren, Ingke
Pu, William T
Eschenhagen, Thomas
Hammer, Elke
Schlossarek, Saskia
Carrier, Lucie
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_gale_infotracmisc_A745409844
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_gale_infotracmisc_A745409844
Other Identifiers
ISSN
2073-4409
E-ISSN
2073-4409
DOI
10.3390/cells11172745
