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In a study published in the online edition of Proceedings of the National Academy of Sciences on Jan. 23, 2023, a team of scientists from Frederick National Laboratory for Cancer Research and the University of California, San Francisco (UCSF) described how neurofibromin 1 (NF1) missense mutations act in a dominant negative manner through dimerization with wild-type neurofibromin.
An analysis of more than 1,000 small molecules has identified dozens of compounds that could be effective to treat Marfan syndrome (MFS), an inherited disorder affecting connective tissue, primarily in the heart and blood vessels, the skeleton, and the eyes. In particular, the researchers from Cambridge University found that glycogen synthase kinase-3β (GSK-3β) could be a target to develop new therapies based on its inhibition.
A new epigenetic editing technique has restored the functionality of neurons in Rett syndrome (RTT), a rare neurodevelopmental disease associated with a mutation of the MECP2 gene on the X chromosome. The origin of this disorder is a heterozygous mutation of the MECP2 (methyl CpG-binding protein 2) gene. Homozygosity is lethal and as it is associated with the X chromosome; Rett mostly affects girls, inhibiting the development of their motor skills and communication.
Nacuity Pharmaceuticals Inc. and Arctic Therapeutics LLC have entered into an exclusive licensing agreement and strategic partnership for the development and commercialization of NPI-001 (N-acetylcysteine amide, NACA) in Iceland for the treatment of hereditary cystatin C amyloid angiopathy (HCCAA).
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