CDG due to Defective Membrane Transporters: Update

2026/01/01 by D. Quelhas, C. R. Ferreira, J. Jaeken · 1 voice
Biochemistry, Genetics and Molecular Biology · #Glycosylation and Glycoproteins Research #Cellular transport and secretion #Genetic and Kidney Cyst Diseases

paper · pdf · doi:10.1002/jimd.70133

openalex publication_date 2026/01/01 · openalex created_date 2026/01/21 · openalex updated_date 2026/08/01

Abstract

Congenital disorders of glycosylation are genetic defects in the glycoprotein and glycolipid glycan assembly and attachment. Some 200 CDG have been reported since the first clinical description in 1980. Most CDG are enzymatic deficiencies, but 13 (6.5%) are defects in the ER, Golgi apparatus (GA), and plasma membrane transporters. This review provides an update on the clinical, biochemical, genetic, and therapeutic aspects of these disorders and on animal models. Defects in other cellular trafficking mechanisms have been excluded from this update.

Citations

• The ABCs of membrane transporters in health and disease (SLC series): Introduction
• The SLC26 gene family of anion transporters and channels

Discussions

• CDG due to Defective Membrane Transporters: Update Great review on a fast-growing corner of CDG: disorders caused not by missing enzymes, but by faulty transport of sugars & ions into the ER/Golgi. [bsky, 0 points, 0 comments]