EPG5 Antibody

1. Our findings expand the phenotypical spectrum of EPG5-related Vici syndrome and suggest that this severe condition may already present in utero PMID: 28748650
2. Our report further reinforces that EPG5-related Vici syndrome is both a neurodevelopmental disorder, which can be diagnosed as early as the second trimester of pregnancy, as well as a neurodegenerative disorder. PMID: 28168853
3. The Vici syndrome protein EPG5 is a Rab7 effector that determines the fusion specificity of autophagosomes with late endosomes/lysosomes. PMID: 27588602
4. Seven SNPs were significantly associated with the risk of Alzheimer disease, and eight SNPs were associated with the age at onset of AD. PMID: 27586004
5. We report two sisters with a nonsense mutation within exon 14 of the EPG5 gene and a phenotype consistent with Vici syndrome PMID: 26854214
6. This article confirms in silico predictions of aberrant splicing in the EPG5 gene due to the mutation NM_020964.2; c.1007A>G p.Gln336Arg PMID: 27343256
7. A mutation affecting the penultimate exon of EPG5 and presenting with typical clinical manifestations of Vici syndrome. PMID: 25331754
8. Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy. PMID: 23222957
9. We characterized the KIAA1632 gene by computational methods: detailed investigation of the genomic structure, protein prediction, identification of orthologs in other species and phylogenetic analysis. PMID: 17549423

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HGNC: 29331

OMIM: 242840

KEGG: hsa:57724

STRING: 9606.ENSP00000282041

UniGene: Hs.514843