Ontology highlight
ABSTRACT:
SUBMITTER: Foulquier F
PROVIDER: S-EPMC3397274 | biostudies-literature | 2012 Jul
REPOSITORIES: biostudies-literature
Foulquier François F Amyere Mustapha M Jaeken Jaak J Zeevaert Renate R Schollen Els E Race Valérie V Bammens Riet R Morelle Willy W Rosnoblet Claire C Legrand Dominique D Demaegd Didier D Buist Neil N Cheillan David D Guffon Nathalie N Morsomme Pierre P Annaert Willem W Freeze Hudson H HH Van Schaftingen Emile E Vikkula Miikka M Matthijs Gert G
American journal of human genetics 20120607 1
Protein glycosylation is a complex process that depends not only on the activities of several enzymes and transporters but also on a subtle balance between vesicular Golgi trafficking, compartmental pH, and ion homeostasis. Through a combination of autozygosity mapping and expression analysis in two siblings with an abnormal serum-transferrin isoelectric focusing test (type 2) and a peculiar skeletal phenotype with epiphyseal, metaphyseal, and diaphyseal dysplasia, we identified TMEM165 (also na ...[more]