Bard FA
Src activates retrograde membrane traffic through phosphorylation of GBF1
The Src tyrosine kinase controls cancer-critical protein glycosylation through Golgi to ER relocation of a subset of Golgi enzymes, GALNTs, from the Golgi to the ER. The authors show here that Src induces the formation of tubular transport carriers containing GALNTs by phosphorylating GBF1 and promoting its binding to Arf1. This study presents some of the first clues to the molecular events underlying Src-regulated relocalization of glycosyltransferases.
ReadLoss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy
Human C2orf69 is an evolutionarily conserved gene whose function is unknown. Here, we report eight unrelated families from which 20 children presented with a fatal syndrome consisting of severe autoinflammation and progredient leukoencephalopathy with recurrent seizures; 12 of these subjects, whose DNA was available, segregated homozygous loss-of-function C2orf69 variants.
ReadLoss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy
Human C2orf69 is an evolutionarily conserved gene whose function is unknown. Here, we report eight unrelated families from which 20 children presented with a fatal syndrome consisting of severe autoinflammation and progredient leukoencephalopathy with recurrent seizures; 12 of these subjects, whose DNA was available, segregated homozygous loss-of-function C2orf69 variants.
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