What are the specific pathophysiological mechanisms linking Mfsd2a deficiency to microcephaly development?

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Priority

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Market price

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Description

While Mfsd2a deficiency causes severe microcephaly in mice and humans, the cellular and molecular pathways connecting lipid transport defects to impaired brain development remain undefined. This knowledge gap limits therapeutic target identification for microcephaly disorders.

Gap type: unexplained_observation Source paper: Mfsd2a: A Physiologically Important Lysolipid Transporter in the Brain and Eye. (2020, Advances in experimental medicine and biology, PMID:32705603)

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