Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Sonia R, Singh"'
Autor:
Niels Pietsch, Jiancheng Cheng, Antonietta Fazio, Leonie Ewald, Erda Alizoti, Elisabeth Krämer, Ellen Orthey, Lucie Carrier, Sonia R Singh
Publikováno v:
Stem Cell Research, Vol 71, Iss , Pp 103188- (2023)
Variants in CRYAB can lead to desmin-related (cardio-)myopathy (DRM), a genetic muscle disorder with no curative treatment available. We introduced a homozygous CRYAB c.358G > A (p.Arg120Gly) mutation, which is established for the study of DRM in mic
Externí odkaz:
https://doaj.org/article/690b5a4cbefd4b42b1db8d1852a43c94
Autor:
Antonia T. L. Zech, Maksymilian Prondzynski, Sonia R. Singh, Niels Pietsch, Ellen Orthey, Erda Alizoti, Josefine Busch, Alexandra Madsen, Charlotta S. Behrens, Moritz Meyer-Jens, Giulia Mearini, Marc D. Lemoine, Elisabeth Krämer, Diogo Mosqueira, Sanamjeet Virdi, Daniela Indenbirken, Maren Depke, Manuela Gesell Salazar, Uwe Völker, Ingke Braren, William T. Pu, Thomas Eschenhagen, Elke Hammer, Saskia Schlossarek, Lucie Carrier
Publikováno v:
Cells, Vol 11, Iss 17, p 2745 (2022)
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
Externí odkaz:
https://doaj.org/article/109fa3ab16674cf981367758f4aa3eb1
Publikováno v:
Cells, Vol 9, Iss 2, p 491 (2020)
Desmin is the major protein component of the intermediate filaments (IFs) cytoskeleton in muscle cells, including cardiac. The accumulation of cleaved and misfolded desmin is a cellular hallmark of heart failure (HF). These desmin alterations are rev
Externí odkaz:
https://doaj.org/article/c677fda39fcc487485cf41c5dcad6cbc
Autor:
Antonia T. L. Zech, Maksymilian Prondzynski, Sonia R. Singh, Ellen Orthey, Erda Alizoti, Josefine Busch, Alexandra Madsen, Charlotta S. Behrens, Giulia Mearini, Marc D. Lemoine, Elisabeth Krämer, Diogo Mosqueira, Sanamjeet Virdi, Daniela Indenbirken, Maren Depke, Manuela Gesell Salazar, Uwe Völker, Ingke Braren, William T. Pu, Thomas Eschenhagen, Elke Hammer, Saskia Schlossarek, Lucie Carrier
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c4de4d821144b4a5d36d21f3d0d284ec
https://doi.org/10.1101/2021.10.28.466251
https://doi.org/10.1101/2021.10.28.466251
Autor:
Hanna Osinska, Ellen Orthey, Jeffery D. Molkentin, Saskia Schlossarek, Jeffrey Robbins, Erda Alizoti, Sonia R. Singh, James Gulick, W. Clark Bacon, Moritz Meyer-Jens, Lucie Carrier, Gregory Davis, Silke Reischmann-Düsener, Patrick M. McLendon
Publikováno v:
Autophagy
article-version (VoR) Version of Record
article-version (VoR) Version of Record
The ubiquitin-proteasome system (UPS) and autophagy-lysosomal pathway (ALP) are two major protein degradation pathways in eukaryotic cells. Initially considered as two independent pathways, there is emerging evidence that they can work in concert. As
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2616168058768ad85f2eec8958db534
https://pubmed.ncbi.nlm.nih.gov/33249983
https://pubmed.ncbi.nlm.nih.gov/33249983
Publikováno v:
Biochimica et Biophysica Acta (BBA) - Molecular Cell Research. 1867:118432
Autophagy (greek auto: self; phagein: eating) is a highly conserved process within eukaryotes that degrades long-lived proteins and organelles within lysosomes. Its accurate and constant operation in basal conditions ensures cellular homeostasis by d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5886b758702db9fa675830349f9bb52
https://doi.org/10.1016/j.bbamcr.2019.01.013
https://doi.org/10.1016/j.bbamcr.2019.01.013
Publikováno v:
Cells
Cells, Vol 9, Iss 2, p 491 (2020)
Cells, Vol 9, Iss 2, p 491 (2020)
Desmin is the major protein component of the intermediate filaments (IFs) cytoskeleton in muscle cells, including cardiac. The accumulation of cleaved and misfolded desmin is a cellular hallmark of heart failure (HF). These desmin alterations are rev
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2dc677bcb9a5db3b46596acc443289cf
https://doi.org/10.3390/cells9020491
https://doi.org/10.3390/cells9020491
Autor:
Silke Reischmann-Düsener, Jeffrey Robbins, Sonia R. Singh, Qinghang Meng, Hanna Osinska, Lucie Carrier, Birgit Geertz, Antonia T.L. Zech, Elisabeth Krämer, Jolanda van der Velden, Charles Redwood, Maksymilian Prondzynski, Saskia Schlossarek
Publikováno v:
Singh, S R, Zech, A T L, Geertz, B, Reischmann-Düsener, S, Osinska, H, Prondzynski, M, Krämer, E, Meng, Q, Redwood, C, van der Velden, J, Robbins, J, Schlossarek, S & Carrier, L 2017, ' Activation of Autophagy Ameliorates Cardiomyopathy in Mybpc3-Targeted Knockin Mice ', Circulation. Heart failure, vol. 10, no. 10, e004140 . https://doi.org/10.1161/CIRCHEARTFAILURE.117.004140
Circulation. Heart failure, 10(10):e004140. Lippincott Williams and Wilkins
Circulation. Heart failure, 10(10):e004140. Lippincott Williams and Wilkins
Background: Alterations in autophagy have been reported in hypertrophic cardiomyopathy (HCM) caused by Danon disease, Vici syndrome, or LEOPARD syndrome, but not in HCM caused by mutations in genes encoding sarcomeric proteins, which account for most
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7579aecefad22e9120495e8a43a2f015
https://doi.org/10.1161/circheartfailure.117.004140
https://doi.org/10.1161/circheartfailure.117.004140
Autor:
Sonia R. Singh, Jeffrey Robbins
Publikováno v:
Circulation research. 122(10)
Desmin, the intermediate filament protein in striated muscle, is an essential component of the striated muscle cell cytoskeleton. In muscle, the cytoskeleton is a multifunctional, dynamic, and complex structure that serves as a scaffold to maintain t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b3c3ae725c22243593927756696a510
https://pubmed.ncbi.nlm.nih.gov/29483093
https://pubmed.ncbi.nlm.nih.gov/29483093
Autor:
Patrick M. McLendon, Jeffery D. Molkentin, Jeffrey Robbins, Na Xu, Sonia R. Singh, Gregory Davis, Nathan Salomonis, James Gulick
Publikováno v:
Circulation research. 121(6)
Rationale: Postmitotic cells, such as cardiomyocytes, seem to be particularly susceptible to proteotoxic stimuli, and large, proteinaceous deposits are characteristic of the desmin-related cardiomyopathies and crystallin cardiomyopathic diseases. Inc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54d7fbb4ea8cb6f46f6a2f2ed2d71716
https://pubmed.ncbi.nlm.nih.gov/28860312
https://pubmed.ncbi.nlm.nih.gov/28860312