Dynamics of Substrate Processing by PPIP5K2, a Versatile Catalytic Machine.
Sign Up to like & getrecommendations! Published in 2019 at "Structure"
DOI: 10.1016/j.str.2019.03.007
Abstract: Processing of substrates by enzymes can only be fully understood through their conformational dynamics; this is particularly true for the diphosphoinositol pentakisphosphate kinase PPIP5K2, an enzyme with critical roles in cell signaling and bioenergetic homeostasis.… read more here.
Keywords: ppip5k2; processing ppip5k2; versatile catalytic; dynamics substrate ... See more keywords
Mutations in Diphosphoinositol-Pentakisphosphate Kinase PPIP5K2 are associated with hearing loss in human and mouse
Sign Up to like & getrecommendations! Published in 2018 at "PLoS Genetics"
DOI: 10.1371/journal.pgen.1007297
Abstract: Autosomal recessive nonsyndromic hearing loss is a genetically heterogeneous disorder. Here, we report a severe-to-profound sensorineural hearing loss locus, DFNB100 on chromosome 5q13.2-q23.2. Exome enrichment followed by massive parallel sequencing revealed a c.2510G>A transition variant… read more here.
Keywords: ppip5k2; mutations diphosphoinositol; hearing loss; associated hearing ... See more keywords