Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Edit custom filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1995 1
1999 1
2001 1
2005 1
2007 1
2008 1
2009 1
2010 1
2012 2
2014 2
2017 2
2018 1
2020 5
2021 1
2024 2
2025 1
2026 1

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

23 results

Results by year

Filters applied: . Clear all
Page 1
COG5-CDG: expanding the clinical spectrum.
Rymen D, Keldermans L, Race V, Régal L, Deconinck N, Dionisi-Vici C, Fung CW, Sturiale L, Rosnoblet C, Foulquier F, Matthijs G, Jaeken J. Rymen D, et al. Orphanet J Rare Dis. 2012 Dec 10;7:94. doi: 10.1186/1750-1172-7-94. Orphanet J Rare Dis. 2012. PMID: 23228021 Free PMC article.
Deficiency of a COG-subunit leads to defective protein glycosylation, and thus Congenital Disorders of Glycosylation (CDG). Mutations in subunits 1, 4, 5, 6, 7 and 8 have been associated with CDG-II. The first patient with COG5-CDG …
Deficiency of a COG-subunit leads to defective protein glycosylation, and thus Congenital Disorders of Glycos …
MALDI-MS profiling of serum O-glycosylation and N-glycosylation in COG5-CDG.
Palmigiano A, Bua RO, Barone R, Rymen D, Régal L, Deconinck N, Dionisi-Vici C, Fung CW, Garozzo D, Jaeken J, Sturiale L. Palmigiano A, et al. J Mass Spectrom. 2017 Jun;52(6):372-377. doi: 10.1002/jms.3936. J Mass Spectrom. 2017. PMID: 28444691
Congenital disorders of glycosylation (CDG) are due to defective glycosylation of glycoconjugates. ...In COG-CDG, isoelectric focusing separation of undersialylated glycoforms of serum transferrin and apolipoprotein C-III (apoC-III) allows to de …
Congenital disorders of glycosylation (CDG) are due to defective glycosylation of glycoconjugates. ...In …
Congenital disorders of glycosylation with emphasis on cerebellar involvement.
Barone R, Fiumara A, Jaeken J. Barone R, et al. Semin Neurol. 2014 Jul;34(3):357-66. doi: 10.1055/s-0034-1387197. Epub 2014 Sep 5. Semin Neurol. 2014. PMID: 25192513 Review.
Congenital disorders of glycosylation (CDG) are genetic diseases due to defective glycosylation of proteins and lipids. ...Cerebellar involvement is an important feature of PMM2-CDG, the congenital muscular dystrophies due to dystroglycan …
Congenital disorders of glycosylation (CDG) are genetic diseases due to defective glycosylation of protei …
COG5 variants lead to complex early onset retinal degeneration, upregulation of PERK and DNA damage.
Tabbarah S, Tavares E, Charish J, Vincent A, Paterson A, Di Scipio M, Yin Y, Mendoza-Londono R, Maynes J, Heon E, Monnier PP. Tabbarah S, et al. Sci Rep. 2020 Dec 4;10(1):21269. doi: 10.1038/s41598-020-77394-3. Sci Rep. 2020. PMID: 33277529 Free PMC article.
Leber congenital amaurosis (LCA), a form of autosomal recessive severe early-onset retinal degeneration, is an important cause of childhood blindness. ...To date, variants in COG5 have been associated with a distinct congenital disorder of gl …
Leber congenital amaurosis (LCA), a form of autosomal recessive severe early-onset retinal degeneration, is an important cause of chi …
Fetal glycosylation defect due to ALG3 and COG5 variants detected via amniocentesis: Complex glycosylation defect with embryonic lethal phenotype.
Ferrer A, Starosta RT, Ranatunga W, Ungar D, Kozicz T, Klee E, Rust LM, Wick M, Morava E. Ferrer A, et al. Mol Genet Metab. 2020 Dec;131(4):424-429. doi: 10.1016/j.ymgme.2020.11.003. Epub 2020 Nov 7. Mol Genet Metab. 2020. PMID: 33187827
INTRODUCTION: Congenital disorders of glycosylation (CDG) are inborn errors of glycan metabolism with high clinical variability. ...Fetal whole exome sequencing showed a novel homozygous likely pathogenic variant in ALG3 and a variant of uncertain sign …
INTRODUCTION: Congenital disorders of glycosylation (CDG) are inborn errors of glycan metabolism with high clini …
Clinical and genetic characterization of congenital disorders of glycosylation in 20 Chinese patients.
Zhao P, Tan L, Meng Q, Zhang L, Huang Y, Zhang X, Hu Y, Zhou S, He X. Zhao P, et al. Orphanet J Rare Dis. 2025 Dec 23;20(1):625. doi: 10.1186/s13023-025-04075-7. Orphanet J Rare Dis. 2025. PMID: 41437099 Free PMC article.
BACKGROUND: Congenital disorders of glycosylation (CDG) are a complex and heterogeneous family of rare metabolic diseases that affect protein and lipid glycosylation and glycosylphosphatidylinositol synthesis. These disorders can affect m …
BACKGROUND: Congenital disorders of glycosylation (CDG) are a complex and heterogeneous family of rare metabolic …
Exploring domain architectures of human glycosyltransferases: Highlighting the functional diversity of non-catalytic add-on domains.
Yagi H, Takagi K, Kato K. Yagi H, et al. Biochim Biophys Acta Gen Subj. 2024 Oct;1868(10):130687. doi: 10.1016/j.bbagen.2024.130687. Epub 2024 Aug 2. Biochim Biophys Acta Gen Subj. 2024. PMID: 39097174 Free article. Review.
These domains include lectin folds, fibronectin type III, and thioredoxin-like domains and contribute to substrate specificity, oligomerization, and consequent enzymatic activity. ...The analysis highlights the importance of add-on domains in enzyme functionality an …
These domains include lectin folds, fibronectin type III, and thioredoxin-like domains and contribute to substrate specificity …
Characterization of a missense variant in COG5 in a Tunisian patient with COG5-CDG syndrome and insights into the effect of non-synonymous variants on COG5 protein.
Khabou B, Sahari UBM, Ben Issa A, Bouchaala W, Szenker-Ravi E, Yu Jin Ng A, Bonnard C, Mbarek H, Zeyaul I, Fakhfakh F, Kammoun F, Reversade B, Charfi Triki C. Khabou B, et al. J Hum Genet. 2024 Nov;69(11):591-597. doi: 10.1038/s10038-024-01273-2. Epub 2024 Jul 11. J Hum Genet. 2024. PMID: 38987656
Hence, we established the COG5-CDG diagnosis. Clinically, the patient shared common features with the already described cases with the report of the ichtyosis as a new manifestation. ...In conclusion, our study expands the genetic and phenotypic spectrum of COG5 …
Hence, we established the COG5-CDG diagnosis. Clinically, the patient shared common features with the already described cases …
Hypothesis: lobe A (COG1-4)-CDG causes a more severe phenotype than lobe B (COG5-8)-CDG.
Haijes HA, Jaeken J, Foulquier F, van Hasselt PM. Haijes HA, et al. J Med Genet. 2018 Feb;55(2):137-142. doi: 10.1136/jmedgenet-2017-104586. Epub 2017 Aug 28. J Med Genet. 2018. PMID: 28848061
The conserved oligomeric Golgi (COG) complex consists of eight subunits organized in two lobes: lobe A (COG1-4) and lobe B (COG5-8). The different functional roles of COG lobe A and lobe B might result in distinct clinical phenotypes in patients with COG-CDG (congenital …
The conserved oligomeric Golgi (COG) complex consists of eight subunits organized in two lobes: lobe A (COG1-4) and lobe B (COG5-8). …
Deficiency in COG5 causes a moderate form of congenital disorders of glycosylation.
Paesold-Burda P, Maag C, Troxler H, Foulquier F, Kleinert P, Schnabel S, Baumgartner M, Hennet T. Paesold-Burda P, et al. Hum Mol Genet. 2009 Nov 15;18(22):4350-6. doi: 10.1093/hmg/ddp389. Epub 2009 Aug 18. Hum Mol Genet. 2009. PMID: 19690088 Free article.
Since the COG complex affects the localization of several Golgi glycosyltransferase enzymes, COG deficiency also leads to defective protein glycosylation, thereby explaining the classification of COG deficiencies as forms of congenital disorders of …
Since the COG complex affects the localization of several Golgi glycosyltransferase enzymes, COG deficiency also leads to defective protein …
23 results