DNM1L, dynamin 1 like, 10059

N. diseases: 273; N. variants: 15
Disease: Hyperactive behavior ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		0.020 GeneticVariation phenotype BEFREE Further, in dopaminergic neurons derived from LRRK2 G2019S PD patient-induced pluripotent stem cells, we demonstrated that either P110 treatment or expression of Drp1(T595A) reduced mitochondrial impairment, lysosomal hyperactivity and neurite shortening. 23813973 2013
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		0.020 Biomarker phenotype BEFREE We recently reported in Alzheimer's disease (AD) that S-nitrosylation of Drp1 (forming S-nitroso [SNO]-Drp1) results in GTPase hyperactivity and mitochondrial fragmentation, thus impairing bioenergetics and inducing synaptic damage and neuronal loss. 23641925 2013