Title : DEGS1-associated aberrant sphingolipid metabolism impairs nervous system function in humans.

Pub. Date : 2019 Mar 1

PMID : 30620338






4 Functional Relationships(s)
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1 The blood sphingolipid profile in the patient showed a significant increase in dihydro sphingolipid species that was further recapitulated in patient-derived fibroblasts, in CRISPR/Cas9-derived DEGS1-knockout cells, and by pharmacological inhibition of DEGS1. Sphingolipids delta 4-desaturase, sphingolipid 1 Homo sapiens
2 The blood sphingolipid profile in the patient showed a significant increase in dihydro sphingolipid species that was further recapitulated in patient-derived fibroblasts, in CRISPR/Cas9-derived DEGS1-knockout cells, and by pharmacological inhibition of DEGS1. Sphingolipids delta 4-desaturase, sphingolipid 1 Homo sapiens
3 The blood sphingolipid profile in the patient showed a significant increase in dihydro sphingolipid species that was further recapitulated in patient-derived fibroblasts, in CRISPR/Cas9-derived DEGS1-knockout cells, and by pharmacological inhibition of DEGS1. Sphingolipids delta 4-desaturase, sphingolipid 1 Homo sapiens
4 The blood sphingolipid profile in the patient showed a significant increase in dihydro sphingolipid species that was further recapitulated in patient-derived fibroblasts, in CRISPR/Cas9-derived DEGS1-knockout cells, and by pharmacological inhibition of DEGS1. Sphingolipids delta 4-desaturase, sphingolipid 1 Homo sapiens