Ellen Orthey
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View article: Generation of a NRAP-overexpressing mutant from a human iPSC line
Generation of a NRAP-overexpressing mutant from a human iPSC line Open
Cardiomyopathies are a major contributor to cardiovascular mortality and are frequently linked to abnormalities in intercalated discs, which coordinate mechanical and electrical signaling between cardiomyocytes. The Nebulin-Related Anchori…
View article: Generation of a biallelic NRAP-knockout mutant from a human iPSC line
Generation of a biallelic NRAP-knockout mutant from a human iPSC line Open
Cardiomyopathies, a leading cause of mortality, are associated with dysfunctional intercalated discs, which connect neighbouring cardiomyocytes and ensure proper contractility. In human cardiac diseases, loss-of-function mutations of the i…
View article: Ruxolitinib clears CRYAB p.Arg120Gly aggregates through the ubiquitin-proteasome system
Ruxolitinib clears CRYAB p.Arg120Gly aggregates through the ubiquitin-proteasome system Open
Rationale Protein accumulation is a hallmark of many neurodegenerative and muscular diseases. Desmin-related (cardio-) myopathy (DRM), a well-studied model for cardiac muscle protein accumulation, is an autosomal dominant-inherited disease…
View article: ACTN2 Mutant Causes Proteopathy in Human iPSC-Derived Cardiomyocytes
ACTN2 Mutant Causes Proteopathy in Human iPSC-Derived Cardiomyocytes Open
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 …
View article: <i>ACTN2</i>mutant causes proteopathy in human iPSC-derived cardiomyocytes
<i>ACTN2</i>mutant causes proteopathy in human iPSC-derived cardiomyocytes Open
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 …
View article: A high-throughput screening identifies ZNF418 as a novel regulator of the ubiquitin-proteasome system and autophagy-lysosomal pathway
A high-throughput screening identifies ZNF418 as a novel regulator of the ubiquitin-proteasome system and autophagy-lysosomal pathway Open
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 …
View article: A high-throughput screening identifies ZNF418 as a novel regulator of the ubiquitin-proteasome system and autophagy-lysosomal pathway
A high-throughput screening identifies ZNF418 as a novel regulator of the ubiquitin-proteasome system and autophagy-lysosomal pathway Open
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 …