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Golgi function and dysfunction in the first COG4-deficient CDG type II patient.

Archive ouverte | Reynders, Ellen | CCSD

International audience. The conserved oligomeric Golgi (COG) complex is a hetero-octameric complex essential for normal glycosylation and intra-Golgi transport. An increasing number of congenital disorder of glycosy...

A new mutation in COG7 extends the spectrum of COG subunit deficiencies.

Archive ouverte | Zeevaert, Renate | CCSD

International audience. We describe a patient homozygous for a novel mutation in COG7, coding for one of the subunits of the Conserved Oligomeric Golgi complex, involved in retrograde vesicular trafficking. His brot...

Manganese-induced turnover of TMEM165

Archive ouverte | Potelle, Sven | CCSD

International audience. TMEM165 deficiencies lead to one of the congenital disorders of glycosylation (CDG), a group of inherited diseases where the glycosylation process is altered. We recently demonstrated that th...

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