Congenital Disorders of N-Glycosylation Including Diseases Associated With O- as Well as N-Glycosylation Defects

Leroy, Jules

doi:10.1203/01.pdr.0000246802.57692.ea

Cited by 69 publications

(50 citation statements)

References 97 publications

(122 reference statements)

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“…In plants and animals, some genes involved in the dolicholrelated N-linked glycosylation pathway have been identified, and defects in the human genes lead to serious diseases called congenital disorders of glycosylation (Koiwa et al, 2003;Kranz et al, 2004Kranz et al, , 2007Leroy, 2006). In this study, we found that the lew1 mutation reduced protein glycosylation levels and identified two specific proteins with altered glycosylation.…”

Section: Discussionmentioning

confidence: 65%

Dolichol Biosynthesis and Its Effects on the Unfolded Protein Response and Abiotic Stress Resistance in Arabidopsis

Ohyama²,

et al. 2008

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Dolichols are long-chain unsaturated polyisoprenoids with multiple cellular functions, such as serving as lipid carriers of sugars used for protein glycosylation, which affects protein trafficking in the endoplasmic reticulum. The biological functions of dolichols in plants are largely unknown. We isolated an Arabidopsis thaliana mutant, lew1 (for leaf wilting1), that showed a leaf-wilting phenotype under normal growth conditions. LEW1 encoded a cis-prenyltransferase, which when expressed in Escherichia coli catalyzed the formation of dolichol with a chain length around C 80 in an in vitro assay. The lew1 mutation reduced the total plant content of main dolichols by ;85% and caused protein glycosylation defects. The mutation also impaired plasma membrane integrity, causing electrolyte leakage, lower turgor, reduced stomatal conductance, and increased drought resistance. Interestingly, drought stress in the lew1 mutant induced higher expression of the unfolded protein response pathway genes BINDING PROTEIN and BASIC DOMAIN/LEUCINE ZIPPER60 as well as earlier expression of the stress-responsive genes RD29A and COR47. The lew1 mutant was more sensitive to dark treatment, but this dark sensitivity was suppressed by drought treatment. Our data suggest that LEW1 catalyzes dolichol biosynthesis and that dolichol is important for plant responses to endoplasmic reticulum stress, drought, and dark-induced senescence in Arabidopsis.

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Section: Discussionmentioning

confidence: 65%

Dolichol Biosynthesis and Its Effects on the Unfolded Protein Response and Abiotic Stress Resistance in Arabidopsis

Ohyama²,

et al. 2008

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“…CDGs are autosomal dominant disorders in which afflicted individuals present with severe developmental delay (53)(54)(55)(56)(57). CDGs are caused by mutant or missing glycogenes, primarily glycosyltransferases, resulting in glycoproteins with relatively modest reductions in the levels and types of attached sugars.…”

Section: Sialylated O-glycans Modulate K V 21 K V 42 and K V 43 mentioning

confidence: 99%

Sialic Acids Attached to O-Glycans Modulate Voltage-gated Potassium Channel Gating

Schwetz

Norring

Ednie

et al. 2011

Journal of Biological Chemistry

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“…To date, 30 CDG hypoglycosylation defects have been identified, including 17 N-glycosylation defects (13 CDG-I or N-glycan assembly defects and 4 CDG-II or N-glycan processing defects), 6 O-glycosylation defects, 5 combined N-and Oglycosylation defects, and 2 lipid glycosylation defects (2)(3)(4)(5)(6)(7)(8)(9).…”

confidence: 99%

Screening Using Serum Percentage of Carbohydrate-Deficient Transferrin for Congenital Disorders of Glycosylation in Children with Suspected Metabolic Disease

et al. 2008

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BACKGROUND:Diagnoses of congenital disorders of glycosylation (CDG) are based on clinical suspicion and analysis of transferrin (Tf) isoforms. Here we present our experience of CDG screening in children with a suspected metabolic disease by determination of serum percentage of carbohydrate-deficient transferrin (%CDT) in tandem with isoelectric focusing (IEF) analysis of Tf and ␣ 1 -antitrypsin (␣ 1 -AT).

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Congenital Disorders of N-Glycosylation Including Diseases Associated With O- as Well as N-Glycosylation Defects

Cited by 69 publications

References 97 publications

Dolichol Biosynthesis and Its Effects on the Unfolded Protein Response and Abiotic Stress Resistance in Arabidopsis

Dolichol Biosynthesis and Its Effects on the Unfolded Protein Response and Abiotic Stress Resistance in Arabidopsis

Sialic Acids Attached to O-Glycans Modulate Voltage-gated Potassium Channel Gating

Screening Using Serum Percentage of Carbohydrate-Deficient Transferrin for Congenital Disorders of Glycosylation in Children with Suspected Metabolic Disease

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