SMPD3, sphingomyelin phosphodiesterase 3, 55512

N. diseases: 50; N. variants: 8
Disease: Impaired cognition ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.020 Biomarker disease BEFREE Here, we report a pathogenetic nexus between absence of SMPD3 in the Golgi compartment (GC) of neurons of the smpd3-/- mouse brain, inhibition of Golgi vesicular protein transport and progressive cognitive impairment. 29725009 2018
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.020 Biomarker disease BEFREE We present for the first time evidence, using Alzheimer's disease (AD) model mice deficient in neural exosome secretion due to lack of neutral sphingomyelinase-2 function, that ceramide-enriched exosomes exacerbate AD-related pathologies and cognitive deficits. 27535912 2016