Global ETD Search
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Showing 1 to 1 of 1 for “"UBR-1"”.
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The JBS-associated E3 Ligase UBR-1 Maintains Synaptic Glutamate Homeostasis and Regulates Neurotransmitter Balance
… JBS results from mutations in the gene UBR1, an E3 ubiquitin ligase that specifically targets proteins for proteasomal degradation. There are multiple UBR1 homologs in humans; however, mutations in UBR1 alone lead to JBS. Although it is known that loss-of-function mutations in UBR1 cause …