Publications by authors named "H Pointu"
Rationale: Mutations in the MYBPC3 gene encoding cardiac myosin-binding protein (cMyBP)-C are frequent causes of hypertrophic cardiomyopathy, but the mechanisms leading from mutations to disease remain elusive.
Objective: The goal of the present study was therefore to gain insights into the mechanisms controlling the expression of MYBPC3 mutations.
Methods And Results: We developed a cMyBP-C knock-in mouse carrying a point mutation.
Article Synopsis
- The text discusses advancements in chemical hazard management and the need for efficient in vitro toxicity assays to reduce animal testing, particularly in the context of the REACH policy and drug ADMETOX prediction.* -
- A new in vitro method was developed using a specialized cell line that responds to stress, allowing for the testing of various toxins, and successfully identifying chemical-specific responses and calculating IC50 values that align with existing data.* -
- The findings emphasize the importance of monitoring cell stress over traditional mortality measures, showcasing a new generation of high-throughput assays that can effectively evaluate chemical hazards while adhering to regulatory frameworks.*
A vital role of tubulin-tyrosine-ligase for neuronal organization.
Proc Natl Acad Sci U S A
May 2005
Tubulin is subject to a special cycle of detyrosination/tyrosination in which the C-terminal tyrosine of alpha-tubulin is cyclically removed by a carboxypeptidase and readded by a tubulin-tyrosine-ligase (TTL). This tyrosination cycle is conserved in evolution, yet its physiological importance is unknown. Here, we find that TTL suppression in mice causes perinatal death.
View Article and Find Full Text PDFProtocadherin 12 protein (PCDH12, VE-cadherin 2) is a cell adhesion molecule that has been isolated from endothelial cells. Here, we have used Northern and Western blots, immunohistology, and flow cytometry to examine the distribution of PCDH12 in mouse tissues. It is an N-glycosylated protein of 150-kDa mass.
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