Aug 2026· Nature Reviews Neurology· 0 citations· 348 references
Medicine
TL;DR
A comprehensive overview of white matter disorders arising from defects in protein biosynthesis pathways is provided, which summarizes known disease-causing genes and their molecular consequences and associated clinical and radiological phenotypes, and highlights emerging mechanistic themes and therapeutic strategies across this expanding class of disorders.
The study provides an integrated framework linking genetic variation to molecular dysfunction and clinical outcomes, offering valuable insights for future research and therapeutic development in pediatric neurology.
Overall, continued progress will depend on the integration of disease biology, rational RNA therapeutic design, and effective CNS-targeted delivery, supporting the broader implementation of precision RNA medicine for genetic neurodevelopmental disorders.
I. Focșa, C. Iliescu, C. Pomeran et al.· International Journal of Mol...· 0 citations
Current knowledge on the genetic basis, clinicopathological features, and molecular mechanisms of AARS1- and AARS2-related leukodystrophies are summarized, and emerging therapeutic perspectives are discussed, with the aim of facilitating precision diagnosis and future targeted interventions.
Spongiform degeneration, or status spongiosis, is characterized by vacuoles within the central nervous system. It appears in numerous neurological diseases, including transmissible spongiform encephalopathies, mitochondrial disorders, and lysosomal storage diseases. Traditionally considered secondary to neurodegenerati...
Snehajit Misra, Teresa M. Gunn· International Journal of Mol...· 0 citations
AGO2 is established as a pivotal regulator of neurodevelopment whose structural integrity is essential for precise miRNA-mediated gene regulation and isomiR generation, and occurrence of gonadal mosaicism is reported and revealed.
Debora Tibbe, Christina Kiel, Olena Ielesicheva et al.· Genome Medicine· 0 citations
A holistic perspective is provided by synthesizing recent developments in the molecular and genetic architecture of tauopathies, particularly newly discovered genetic risk loci and cellular proteostasis mechanisms to analytically evaluate the diagnostic value of fluid biomarkers and current data on next-generation clin...
E. Ünal, S. Çomoğlu· Journal of Parkinson's Disea...· 0 citations
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