Publications by authors named "Marvin ASSent"
Synaptopodin-2 (SYNPO2) is a protein associated with the Z-disc in striated muscle cells. It interacts with α-actinin and filamin C, playing a role in Z-disc maintenance under stress by chaperone-assisted selective autophagy (CASA). In smooth muscle cells, SYNPO2 is a component of dense bodies.
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- FILIP1 is a structural protein that plays a role in the function and integrity of neurons and muscles, and mutations in this protein lead to serious health issues, particularly neurological and muscular disorders.
- Researchers studied five patients from unrelated families who had harmful FILIP1 mutations and found they exhibited a range of symptoms, such as brain malformations and muscle weakness.
- The findings indicate that defective FILIP1 causes a recessive disorder with both neurological and muscular effects, highlighting issues like protein dysregulation and muscle damage typical of a new condition known as FILIP1opathy.
Introduction: Most of the approximately 60 genes that if mutated cause steroid-resistant nephrotic syndrome (SRNS) are highly expressed in the glomerular podocyte, rendering SRNS a "podocytopathy."
Methods: We performed whole-exome sequencing (WES) in 1200 nephrotic syndrome (NS) patients.
Results: We discovered homozygous truncating and homozygous missense mutation in (synaptopodin-2) (p.
Protein-based encapsulation systems have a wide spectrum of applications in targeted delivery of cargo molecules and for chemical transformations in confined spaces. By engineering affinity between cargo and container proteins it has been possible to enable the efficient and specific encapsulation of target molecules. Missing in current approaches is the ability to turn off the interaction after encapsulation to enable the cargo to freely diffuse in the lumen of the container.
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