Sonia R Singh
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Explore the profile of Sonia R Singh including associated specialties, affiliations and a list of published articles.
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10
Citations
163
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Recent Articles
1.
Pietsch N, Cheng J, Fazio A, Ewald L, Alizoti E, Kramer E, et al.
Stem Cell Res
. 2023 Aug;
71:103188.
PMID: 37633027
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...
2.
Zech A, Prondzynski M, Singh S, Pietsch N, Orthey E, Alizoti E, et al.
Cells
. 2022 Sep;
11(17).
PMID: 36078153
Genetic variants in α-actinin-2 (ACTN2) are associated with several forms of (cardio)myopathy. We previously reported a heterozygous missense (c.740C>T) gene variant, associated with hypertrophic cardiomyopathy, and characterized by an electro-mechanical...
3.
Singh S, Meyer-Jens M, Alizoti E, Bacon W, Davis G, Osinska H, et al.
Autophagy
. 2020 Nov;
17(10):3124-3139.
PMID: 33249983
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...
4.
Singh S, Kadioglu H, Patel K, Carrier L, Agnetti G
Cells
. 2020 Feb;
9(2).
PMID: 32093415
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...
5.
Zech A, Singh S, Schlossarek S, Carrier L
Biochim Biophys Acta Mol Cell Res
. 2019 Mar;
1867(3):118432.
PMID: 30831130
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...
6.
7.
Singh S, Zech A, Geertz B, Reischmann-Dusener S, Osinska H, Prondzynski M, et al.
Circ Heart Fail
. 2017 Oct;
10(10).
PMID: 29021349
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...
8.
McLendon P, Davis G, Gulick J, Singh S, Xu N, Salomonis N, et al.
Circ Res
. 2017 Jun;
121(6):604-616.
PMID: 28655832
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. Increased activity...
9.
Muhammad E, Levitas A, Singh S, Braiman A, Ofir R, Etzion S, et al.
Hum Mol Genet
. 2015 Oct;
24(25):7227-40.
PMID: 26464484
Gene mutations, mostly segregating with a dominant mode of inheritance, are important causes of dilated cardiomyopathy (DCM), a disease characterized by enlarged ventricular dimensions, impaired cardiac function, heart failure and...
10.
Schlossarek S, Singh S, Geertz B, Schulz H, Reischmann S, Hubner N, et al.
Front Physiol
. 2015 Jan;
5:484.
PMID: 25566086
A growing line of evidence indicates a dysfunctional ubiquitin-proteasome system (UPS) in cardiac diseases. Anti-hypertrophic effects and improved cardiac function have been reported after treatment with proteasome inhibitors in experimental...