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Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review.
Conte F, Sam JE, Lefeber DJ, Passier R. Conte F, et al. Int J Mol Sci. 2023 May 11;24(10):8632. doi: 10.3390/ijms24108632. Int J Mol Sci. 2023. PMID: 37239976 Free PMC article. Review.
Heart failure (HF) is a progressive chronic disease that remains a primary cause of death worldwide, affecting over 64 million patients. HF can be caused by cardiomyopathies and congenital cardiac defects with monogenic etiology. The number of genes and monogenic disord
Heart failure (HF) is a progressive chronic disease that remains a primary cause of death worldwide, affecting over 64 million patients. HF …
COG1-congenital disorders of glycosylation: Milder presentation and review.
Salazar M, Miyake N, Silva S, Solar B, Papazoglu GM, Asteggiano CG, Matsumoto N. Salazar M, et al. Clin Genet. 2021 Sep;100(3):318-323. doi: 10.1111/cge.13980. Epub 2021 May 13. Clin Genet. 2021. PMID: 33960418 Review.
Congenital disorders of glycosylation (CDG) are a heterogeneous group of genetic defects in glycoprotein and glycolipid glycan synthesis and attachment. ...Exome sequencing identified a homozygous COG1 variant (NM_018714.3: c.2665dup: p.[Arg889P
Congenital disorders of glycosylation (CDG) are a heterogeneous group of genetic defects in glycoprotein and gly
Conserved Oligomeric Golgi and Neuronal Vesicular Trafficking.
Climer LK, Hendrix RD, Lupashin VV. Climer LK, et al. Handb Exp Pharmacol. 2018;245:227-247. doi: 10.1007/164_2017_65. Handb Exp Pharmacol. 2018. PMID: 29063274 Free PMC article. Review.
The conserved oligomeric Golgi (COG) complex is an evolutionary conserved multi-subunit vesicle tethering complex essential for the majority of Golgi apparatus functions: protein and lipid glycosylation and protein sorting. COG is present in neuronal cells, but the reperto …
The conserved oligomeric Golgi (COG) complex is an evolutionary conserved multi-subunit vesicle tethering complex essential for the majority …
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. ...Screening methods are limited to serum transferrin isoelectrofocusing (for N-glycosylation disorders with si
Congenital disorders of glycosylation (CDG) are genetic diseases due to defective glycosylation of protei
Golgi inCOGnito: From vesicle tethering to human disease.
D'Souza Z, Taher FS, Lupashin VV. D'Souza Z, et al. Biochim Biophys Acta Gen Subj. 2020 Nov;1864(11):129694. doi: 10.1016/j.bbagen.2020.129694. Epub 2020 Jul 27. Biochim Biophys Acta Gen Subj. 2020. PMID: 32730773 Free PMC article. Review.
In cells, COG deficiencies result in the accumulation of non-tethered COG-complex dependent (CCD) vesicles, dramatic morphological and functional abnormalities of the Golgi and endosomes, severe defects in N- and O- glycosylation, Golgi retrograde trafficking, sorting and …
In cells, COG deficiencies result in the accumulation of non-tethered COG-complex dependent (CCD) vesicles, dramatic morphological and funct …
COG defects, birth and rise!
Foulquier F. Foulquier F. Biochim Biophys Acta. 2009 Sep;1792(9):896-902. doi: 10.1016/j.bbadis.2008.10.020. Epub 2008 Nov 6. Biochim Biophys Acta. 2009. PMID: 19028570 Free article. Review.
The involvement of this complex in glycosylation and more specifically in Golgi glycosyltransferases localization has been highlighted with the discovery of COG subunit deficiencies leading to CDG (Congenital Disorders of Glycosylation), a group …
The involvement of this complex in glycosylation and more specifically in Golgi glycosyltransferases localization has been highlighte …
Role of the conserved oligomeric Golgi (COG) complex in protein glycosylation.
Smith RD, Lupashin VV. Smith RD, et al. Carbohydr Res. 2008 Aug 11;343(12):2024-31. doi: 10.1016/j.carres.2008.01.034. Epub 2008 Feb 2. Carbohydr Res. 2008. PMID: 18353293 Free PMC article. Review.
The COG protein complex consists of eight subunits, distributed in two lobes, Lobe A (Cog1-4) and Lobe B (Cog5-8). Malfunctions in the COG complex have a significant impact on processes such as protein sorting, glycosylation, and Golgi integrity. A deletion of Lobe …
The COG protein complex consists of eight subunits, distributed in two lobes, Lobe A (Cog1-4) and Lobe B (Cog5-8). Malfunctions in th …
Deficiencies in subunits of the Conserved Oligomeric Golgi (COG) complex define a novel group of Congenital Disorders of Glycosylation.
Zeevaert R, Foulquier F, Jaeken J, Matthijs G. Zeevaert R, et al. Mol Genet Metab. 2008 Jan;93(1):15-21. doi: 10.1016/j.ymgme.2007.08.118. Epub 2007 Sep 29. Mol Genet Metab. 2008. PMID: 17904886 Review.
This compartmentalization is achieved by a balance between anterograde and retrograde vesicular trafficking. If the balance is disturbed, the glycosylation machinery is mislocalized, which can cause Congenital Disorders of Glycosylation type II …
This compartmentalization is achieved by a balance between anterograde and retrograde vesicular trafficking. If the balance is disturbed, th …
Component of oligomeric Golgi complex 1 deficiency leads to hypoglycemia: a case report and literature review.
Huang Y, Dai H, Yang G, Zhang L, Xue S, Zhu M. Huang Y, et al. BMC Pediatr. 2021 Oct 8;21(1):442. doi: 10.1186/s12887-021-02922-7. BMC Pediatr. 2021. PMID: 34625039 Free PMC article. Review.
BACKGROUND: Congenital disorders of glycosylation (CDG) are a group of metabolic diseases with clinical and genetic heterogeneity, and CDG-IIg is one of the rare reported types of CDG. ...Arg831Gln) in exon 10 of the COG1 gene that was inherited …
BACKGROUND: Congenital disorders of glycosylation (CDG) are a group of metabolic diseases with clinical and gene …