Article

<i>SMPD4</i> mediated sphingolipid metabolism regulates brain and primary cilia development

2023-12-16

Abstract excerpt

<h4>Summary</h4> Genetic variants in multiple sphingolipid biosynthesis genes cause human brain disorders. A recent study collected patients from twelve unrelated families with variants in the gene SMPD4 , a neutral sphingomyelinase which metabolizes sphingomyelin into ceramide at an early stage of the biosynthesis pathway. These patients have severe developmental brain malformations including microcephaly and c...

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Literature Corpus work: d785d612-604f-5ee6-bab9-023a6a678c06
DOI: 10.1101/2023.12.15.571873

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