 Congenital Disorders of Glycosylation
"Congenital Disorders of Glycosylation" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
A genetically heterogeneous group of heritable disorders resulting from defects in protein N-glycosylation.
| Descriptor ID |
D018981
|
| MeSH Number(s) |
C16.320.565.202.125 C18.452.648.202.125
|
| Concept/Terms |
Congenital Disorders of Glycosylation- Congenital Disorders of Glycosylation
- Glycoprotein Syndrome, Carbohydrate-Deficient
- Carbohydrate-Deficient Glycoprotein Syndrome
- Carbohydrate Deficient Glycoprotein Syndrome
- Carbohydrate-Deficient Glycoprotein Syndromes
- Syndrome, Carbohydrate-Deficient Glycoprotein
- Syndromes, Carbohydrate-Deficient Glycoprotein
|
Below are MeSH descriptors whose meaning is more general than "Congenital Disorders of Glycosylation".
Below are MeSH descriptors whose meaning is more specific than "Congenital Disorders of Glycosylation".
This graph shows the total number of publications written about "Congenital Disorders of Glycosylation" by people in UAMS Profiles by year, and whether "Congenital Disorders of Glycosylation" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2023 | 1 | 0 | 1 | | 2021 | 1 | 0 | 1 | | 2020 | 1 | 0 | 1 | | 2019 | 0 | 2 | 2 | | 2018 | 1 | 1 | 2 | | 2017 | 1 | 0 | 1 |
To return to the timeline, click here.
Below are the most recent publications written about "Congenital Disorders of Glycosylation" by people in Profiles over the past ten years.
-
Duan R, Marafi D, Xia ZJ, Ng BG, Maroofian R, Sumya FT, Saad AK, Du H, Fatih JM, Hunter JV, Elbendary HM, Baig SM, Abdullah U, Ali Z, Efthymiou S, Murphy D, Mitani T, Withers MA, Jhangiani SN, Coban-Akdemir Z, Calame DG, Pehlivan D, Gibbs RA, Posey JE, Houlden H, Lupashin VV, Zaki MS, Freeze HH, Lupski JR. Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking. J Inherit Metab Dis. 2023 11; 46(6):1195-1205.
-
D'Souza Z, Sumya FT, Khakurel A, Lupashin V. Getting Sugar Coating Right! The Role of the Golgi Trafficking Machinery in Glycosylation. Cells. 2021 11 23; 10(12).
-
D'Souza Z, Taher FS, Lupashin VV. Golgi inCOGnito: From vesicle tethering to human disease. Biochim Biophys Acta Gen Subj. 2020 11; 1864(11):129694.
-
Vicogne D, Houdou M, Garat A, Climer L, Lupashin V, Morelle W, Foulquier F. Fetal bovine serum impacts the observed N-glycosylation defects in TMEM165 KO HEK cells. J Inherit Metab Dis. 2020 03; 43(2):357-366.
-
Lebredonchel E, Houdou M, Potelle S, de Bettignies G, Schulz C, Krzewinski Recchi MA, Lupashin V, Legrand D, Klein A, Foulquier F. Dissection of TMEM165 function in Golgi glycosylation and its Mn2+ sensitivity. Biochimie. 2019 Oct; 165:123-130.
-
Mulkey SB, Ng BG, Vezina GL, Bulas DI, Wolfe LA, Freeze HH, Ferreira CR. Arrest of Fetal Brain Development in ALG11-Congenital Disorder of Glycosylation. Pediatr Neurol. 2019 05; 94:64-69.
-
Ishii M, Lupashin VV, Nakano A. Detailed Analysis of the Interaction of Yeast COG Complex. Cell Struct Funct. 2018 Jul 19; 43(2):119-127.
-
Morelle W, Potelle S, Witters P, Wong S, Climer L, Lupashin V, Matthijs G, Gadomski T, Jaeken J, Cassiman D, Morava E, Foulquier F. Galactose Supplementation in Patients With TMEM165-CDG Rescues the Glycosylation Defects. J Clin Endocrinol Metab. 2017 Apr 01; 102(4):1375-1386.
|
People  People who have written about this concept. _
Similar Concepts
People who have written about this concept.
_
Top Journals
Top journals in which articles about this concept have been published.
|