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Distúrbios CASK
Artigos selecionados, análises e notícias sobre distúrbios relacionados com a CASK. Sempre que possível, a nossa equipa elabora resumos de fácil compreensão para que os pais e familiares possam manter-se informados.
Detailed information on this rare disorder for parents and pediatric neurologists, with appropriate treatments.
March 2022. Review of CASK mechanisms and the role of mouse models.
July 2020.
Summary and categorisation of clinical phenotypes by mutation type.
Ongoing research from Hans-Jürgen Kreienkamp and team.
February 2019. Genetic manipulation techniques used to study how protein function can lead to neurodevelopmental delays.
An up-to-date description of CASK-related disorder; a step toward understanding the spectrum of neurodevelopmental difficulties linked to CASK gene differences. Co-authored by the director of CASK Research and recruited for by all members of the CASK Coalition.
"Neurons lacking CASK (CASK-negative) were less likely to survive during development."
"The researchers gave JNK-IN-8 directly into the brains of young female mice… The treated mice showed fewer signs of brain cell loss, gained weight, and movement abilities improved…"
CASK may affect brain energy homeostasis and synaptic connections. Alterations in brain volume associated with CASK-linked disorders is the result of degenerative cell death rather than developmental failure.