Publications by authors named "V H Boer"

Label-free imaging is routinely used during cell culture because of its minimal interference with intracellular biology and capability of observing cells over time. However, label-free image analysis is challenging due to the low contrast between foreground signals and background. So far various deep learning tools have been developed for label-free image analysis and their performance depends on the quality of training data.

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Classic infantile Pompe disease is caused by abnormal lysosomal glycogen accumulation in multiple tissues, including the brain due to a deficit in acid α-glucosidase. Although treatment with recombinant human acid α-glucosidase has dramatically improved survival, recombinant human acid α-glucosidase does not reach the brain, and surviving classic infantile Pompe patients develop progressive cognitive deficits and white matter lesions. We investigated the feasibility of measuring non-invasively glycogen build-up and other metabolic alterations in the brain of classic infantile Pompe patients.

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Article Synopsis
  • * Research identified two genetic variants (P114T and L128V) in patients suspected of mitochondrial disease, which result in less stable SIRT5 protein and lower activity without creating new harmful effects.
  • * A mouse model mimicking the P114T mutation demonstrates reduced SIRT5 levels, but does not show significant metabolic or neurological issues, suggesting that these genetic variants alone are unlikely to be the main cause of the neurological problems in patients.
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Article Synopsis
  • SIRT5 is a deacylase involved in removing negatively-charged lysine modifications, mostly active in the mitochondrial matrix.
  • Two specific variants in SIRT5 (P114T and L128V) found in human patients with severe mitochondrial disease lead to decreased protein stability and activity, but do not show signs of dominant negative effects.
  • A mouse model created to mimic the P114T variant shows reduced SIRT5 levels and activity without significant health issues, suggesting the variants might not be the main cause of the patients' neurological symptoms.
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The small intestine requires energy to exert its important role in nutrient uptake and barrier function. Pigs are an important source of food and a model for humans. Young piglets and infants can suffer from periods of insufficient food intake.

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