Defective neuronal differentiation in Lowe syndrome is associated with mitochondrial dysfunction and impaired cilia-related Sonic Hedgehog signaling

Likely Human

elifesciences.orgSeptember 18, 2026Submitted September 21, 2026

OCRL deficiency is associated with mitochondrial dysfunction, altered ciliary signaling, and disrupted neural cell-state regulation across multiple experimental models of Lowe syndrome.

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ClassificationLikely Human

ConfidenceMedium confidence

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