Daisy Rymen

TL;DR: In this paper, the authors evaluated patients who had a novel recessive disorder of glycosylation, with a range of clinical manifestations that included hepatopathy, bifid uvula, malignant hyperthermia, hypogonadotropic hypogono-morphosis, growth retardation, hypoglycemia, myopathy, dilated cardiomyopathy, and cardiac arrest.

TL;DR: CCDC115 deficiency is revealed as a disorder of Golgi homeostasis that can be readily identified via screening for abnormal glycosylation in plasma and a more general role for CCDC115 in Golgi trafficking is suggested.

TL;DR: It is confirmed that MAN1B1 is indeed localized to the Golgi complex instead of the ER, and an altered Golgi morphology in all patients' cells is observed, and it is hypothesize that part of the phenotype is associated to this Golgi disruption.

TL;DR: The data suggest that the missense mutations in ATP6AP2 lead to impaired V-ATPase assembly and subsequent defects in glycosylation and autophagy, which is related to liver disease, immunodeficiency, cutis laxa, and psychomotor impairment.

TL;DR: A comparison with other COG deficiencies suggests ectodermal changes to be a hallmark of COG6-related disorders and imply subtle functional differences between the COG complex subunits.