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Lysosomal Ion Channels and Human Diseases
Published in Tian-Le Xu, Long-Jun Wu, Nonclassical Ion Channels in the Nervous System, 2021
Peng Huang, Mengnan Xu, Yi Wu, Xian-Ping Dong
In a forward mosaic screen in Drosophila designed to identify genes essential for neuronal function and maintenance, a Drosophila VGCC cacophony (cac) was identified in lysosomes where it regulates the fusion of autophagosomes with lysosomes. The role of VGCC in autophagosome-lysosome fusion is evolutionarily conserved, as the loss of either cac or the mouse homologues, CACNA1A and CACNA2D2 leads to autophagic defects in mice (Tian et al., 2015).
Strict network analysis of evolutionary conserved and brain-expressed genes reveals new putative candidates implicated in Intellectual Disability and in Global Development Delay
Published in The World Journal of Biological Psychiatry, 2021
Rafael Mina Piergiorge, Ana Tereza Ribeiro de Vasconcelos, Márcia Mattos Gonçalves Pimentel, Cíntia Barros Santos-Rebouças
Despite the identification of 1625 proteins with high-reliability interactions and 172 coding genes involved in conserved interactions with evidence of expression in the cortex and cerebellum, our data are computational predictions. Thus, the findings should be supported by future experimental approaches involving whole exome/genome sequencing and transcriptome data. It is worth mentioning that during this study other versions of the HPO were published. Comparison of our ID/GDD candidate genes list with the most recent HPO version (June 2020 release) recovered 31 new genes, from which eight are specific to ID (ADCY3, CDK8, CSNK2B, DLG4, KIF5A, MC2R, REEP6, and WASF1), 15 are specific to GDD (ABL1, ALB, ATN1, CACNA2D2, CNOT1, GP1BA, ITGA2B, ITGB3, KMT2E, MED13, NPM1, PPP2CA, SALL4, TOP3A, and TRHR) and eight are shared by both conditions (DYNC1I2, LAMA1, MYSM1, PCGF2, RAD51, SIK1, STAG2, and SUZ12). Altogether, these findings reinforce the power of our methodology in identifying new ID, GDD, and ID/GDD candidate genes.