Article

Pathological variants in <i>HPDL</i> cause collapse of the neuro-glial unit during human cortical maturation

2026-06-10

Abstract excerpt

Biallelic variants in HPDL cause a severe neurological disorder in childhood, but the mechanisms linking early developmental abnormalities to later cortical degeneration remain unclear. Here, using long-term iPSC-derived human cortical cultures derived from four patients, we investigated the late consequences of HPDL deficiency through quantitative immunofluorescence and bulk RNA-seq. We found that HPDL-deficien...

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Literature Corpus work: 78ec842e-3535-5085-831e-b2d4fa947761
DOI: 10.64898/2026.06.09.731096

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