Disease: Intellectual disability

Deciphering the role of CAPZA2 in neurodevelopmental disorders: insights from mouse models

Scientists studied a gene called CAPZA2 that helps control how brain cells connect to each other. When this gene doesn’t work properly, mice had trouble learning, remembering things, and interacting socially, similar to intellectual disability in humans. The researchers found that the problem happens because the connections between brain cells become abnormal and don’t mature properly. This research helps explain why some people with mutations in this gene have developmental difficulties and could lead to new treatments.

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N-terminal oligomerization drives HDAC4 nuclear condensation and neurodevelopmental dysfunction in Drosophila

This study reveals how a protein called HDAC4 forms clumps inside cell nuclei, which damages brain development. Researchers found that the protein’s ability to stick to itself (oligomerize) drives this clumping process. By modifying the protein to prevent self-sticking, they reduced the damage to developing brain structures, suggesting new ways to treat brain disorders linked to HDAC4 accumulation.

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Presynaptic hyperexcitability reversed by positive allosteric modulation of a GABABR epilepsy variant

Researchers studied three genetic mutations in GABA_B receptors that cause severe epilepsy and developmental problems in children. They found that these mutations prevent the receptors from reaching the cell surface and cause excessive calcium buildup in nerve terminals, leading to overexcitability. Using a special drug compound that enhances GABA_B receptor activity, the team was able to reverse these harmful effects, offering a potential new treatment strategy for affected patients.

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Convergent evolution links molybdenum insertase domains with organism-specific sequences

Scientists discovered that fungi have uniquely evolved a special way to make molybdenum cofactor, a molecule essential for life. When researchers tried to swap the fungal version with versions from plants or animals, the fungi couldn’t survive properly. A specific 20-amino acid section turned out to be critical for the fungus to use nitrate as food. This finding shows that evolution has created highly specialized solutions for the same biological problem in different organisms.

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