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Astrocytic polyamine clearance via ATP13A4 tunes extracellular spermidine to shape synapse formation during development, showing how brain extracellular levels are controlled has remained unclear.
The results expand the genetic and clinical spectrum of CLCN3-related disease, provide a solid basis for genetic counseling, and uncover an unexpected link between gating-associated conformational changes and inhibition by TMEM9.
These findings define and validate a distinct DNAm episignature for WSKA, providing a valuable diagnostic biomarker to sup - port variant classification and offering insight into the epigenomic consequences of ZNF462 haploinsufficiency.
Findings further support AP5B1 as a cause of macular dystrophy, identify p.(Leu785Pro) as a relatively frequent pathogenic allele in individuals of European and Ashkenazi Jewish ancestry, and expand the associated phenotypic spectrum to include both isolated macular dystrophy and possible syndromic presentations.
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