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Article

TMEM165 deficiency causes a congenital disorder of glycosylation.

American journal of human genetics - 13 Jul 2012

Foulquier François, Amyere Mustapha, Jaeken Jaak, Zeevaert Renate, Schollen Els, Race Valérie, Bammens Riet, Morelle Willy, Rosnoblet Claire, Legrand Dominique, Demaegd Didier, Buist Neil, Cheillan David, Guffon Nathalie, Morsomme Pierre, Annaert Willem, Freeze Hudson H, Van Schaftingen Emile, Vikkula Miikka, Matthijs Gert

Abstract excerpt

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...

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Identifiers

PMID: 22683087
DOI: 10.1016/j.ajhg.2012.05.002
PMCID: PMC3397274

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22683087-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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TMEM165 deficiency causes a congenital disorder of glycosylation.PMID 22683087Read ↗

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Evidence for splice transcript variants of TMEM165, a gene involved in CDG.Semantic proximity Read ↗

Glycosylation abnormalities in Gdt1p/TMEM165 deficient cells result from a defect in Golgi manganese homeostasis.Semantic proximity Read ↗

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A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype.Semantic proximity Read ↗

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