Skip to main content
Fig. 7 | Hereditas

Fig. 7

From: SMPD1 expression profile and mutation landscape help decipher genotype–phenotype association and precision diagnosis for acid sphingomyelinase deficiency

Fig. 7

Pathways involved in NPA fibroblasts cells in response to sphingomyelin treatment. A DEGs illustrated with a volcano plot. B CASP7, PRKCD and SMPD1 expression following the SM treatment. *, p < 0.05. C Enrichment analysis of Gene Ontology (GO) terms withtop 50 DEGS. Oxidoreductase activity 1, oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen. Oxidoreductase activity 2, oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water. BP, biological process. CC, cellular component. MF, molecular function

Back to article page

Hereditas

ISSN: 1601-5223

Contact us