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Page 1
Proteomic-based approaches to cardiac development and disease.
Dorr KM, Conlon FL. Dorr KM, et al. Curr Opin Chem Biol. 2019 Feb;48:150-157. doi: 10.1016/j.cbpa.2019.01.001. Epub 2019 Jan 31. Curr Opin Chem Biol. 2019. PMID: 30711722 Free PMC article. Review.
Congenital malformations, or structural birth defects, are now the leading cause of infant mortality in the United States and Europe (Dolk et al., 2010; Heron et al., 2009). Of the congenital malformations, congenital heart disease (CHD) is the most common (Dolk et …
Congenital malformations, or structural birth defects, are now the leading cause of infant mortality in the United States and Europe (Dol …
Dolichol kinase deficiency (DOLK-CDG): Two new cases and expansion of phenotype.
Rush ET, Baker CV, Rizzo WB. Rush ET, et al. Am J Med Genet A. 2017 Sep;173(9):2428-2434. doi: 10.1002/ajmg.a.38287. Am J Med Genet A. 2017. PMID: 28816422
An early step in this process requires dolichol kinase (DK) to catalyze the formation of dolichyl phosphate, which acts as a membrane anchor for initial attachment of sugar residues that are subsequently built up to oligosaccharides and transferred to acceptor prote …
An early step in this process requires dolichol kinase (DK) to catalyze the formation of dolichyl phosphate, which acts as a m …
Severe, fatal multisystem manifestations in a patient with dolichol kinase-congenital disorder of glycosylation.
Lieu MT, Ng BG, Rush JS, Wood T, Basehore MJ, Hegde M, Chang RC, Abdenur JE, Freeze HH, Wang RY. Lieu MT, et al. Mol Genet Metab. 2013 Dec;110(4):484-9. doi: 10.1016/j.ymgme.2013.09.016. Epub 2013 Oct 4. Mol Genet Metab. 2013. PMID: 24144945 Free PMC article.
Congenital disorders of glycosylation are a group of metabolic disorders with an expansive and highly variable clinical presentation caused by abnormal glycosylation of proteins and lipids. Dolichol kinase (DOLK) catalyzes the final step in biosynthesis of do …
Congenital disorders of glycosylation are a group of metabolic disorders with an expansive and highly variable clinical presentation caused …
Human dolichol kinase, a polytopic endoplasmic reticulum membrane protein with a cytoplasmically oriented CTP-binding site.
Shridas P, Waechter CJ. Shridas P, et al. J Biol Chem. 2006 Oct 20;281(42):31696-704. doi: 10.1074/jbc.M604087200. Epub 2006 Aug 21. J Biol Chem. 2006. PMID: 16923818 Free article.
Dolichol kinase (DK) catalyzes the CTP-dependent phosphorylation of dolichol in the biosynthesis de novo and possibly the recycling of dolichyl monophosphate in yeast and mammals. ...
Dolichol kinase (DK) catalyzes the CTP-dependent phosphorylation of dolichol in the biosynthesis de novo and possibly the recy …
Dolichol kinase deficiency (DOLK-CDG) with a purely neurological presentation caused by a novel mutation.
Helander A, Stödberg T, Jaeken J, Matthijs G, Eriksson M, Eggertsen G. Helander A, et al. Mol Genet Metab. 2013 Nov;110(3):342-4. doi: 10.1016/j.ymgme.2013.07.002. Epub 2013 Jul 10. Mol Genet Metab. 2013. PMID: 23890587
Fibroblast lipid-linked oligosaccharide analysis was also normal, suggesting an early defect in glycan assembly. Sequence analysis of the dolichol kinase gene revealed a homozygous new missense mutation (p.M1?; c.2 T > C) in both siblings. In conclusion, two sibl …
Fibroblast lipid-linked oligosaccharide analysis was also normal, suggesting an early defect in glycan assembly. Sequence analysis of the …
A Novel Compound Heterozygous Gene Mutation of Dolichol Kinase Deficiency (DOLK-CDG).
Yu S, Zhang Y, Chen Z, Song J, Wang C. Yu S, et al. Endocr Metab Immune Disord Drug Targets. 2023;23(2):235-241. doi: 10.2174/1871530322666220607123739. Endocr Metab Immune Disord Drug Targets. 2023. PMID: 35674301 Review.
BACKGROUND: Congenital disorder of glycosylation caused by mutation of the DOLK(DOLK-CDG) is a group of rare autosomal recessive diseases with an early-onset age and poor prognosis. ...The discovery of the novel mutation broadened the mutation spectrum of DOLK …
BACKGROUND: Congenital disorder of glycosylation caused by mutation of the DOLK(DOLK-CDG) is a group of rare autosomal recessi …
Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation.
Lefeber DJ, de Brouwer AP, Morava E, Riemersma M, Schuurs-Hoeijmakers JH, Absmanner B, Verrijp K, van den Akker WM, Huijben K, Steenbergen G, van Reeuwijk J, Jozwiak A, Zucker N, Lorber A, Lammens M, Knopf C, van Bokhoven H, Grünewald S, Lehle L, Kapusta L, Mandel H, Wevers RA. Lefeber DJ, et al. PLoS Genet. 2011 Dec;7(12):e1002427. doi: 10.1371/journal.pgen.1002427. Epub 2011 Dec 29. PLoS Genet. 2011. PMID: 22242004 Free PMC article.
In all individuals, pathogenic mutations were identified in DOLK, encoding the dolichol kinase responsible for formation of dolichol-phosphate. Enzyme analysis in patients' fibroblasts confirmed a dolichol kinase deficiency in all families. ...W …
In all individuals, pathogenic mutations were identified in DOLK, encoding the dolichol kinase responsible for formatio …
Dolichol: a curriculum cognitionis.
Hemming FW. Hemming FW. Biochem Cell Biol. 1992 Jun;70(6):377-81. doi: 10.1139/o92-058. Biochem Cell Biol. 1992. PMID: 1449703 Review.
This can be achieved by modification of the relative activities of dolichol kinase and dolichol phosphate phosphatase. Modulation of the biosynthetic pathway, still not fully understood, of dolichyl phosphate may also be an important factor. ...
This can be achieved by modification of the relative activities of dolichol kinase and dolichol phosphate phosphatase. Modulat …
Fatal hyperkeratosis syndrome in four siblings due to dolichol kinase deficiency.
Hall BD, Stevenson RE, Jones JR. Hall BD, et al. Am J Med Genet A. 2020 Jun;182(6):1421-1425. doi: 10.1002/ajmg.a.61574. Epub 2020 Apr 6. Am J Med Genet A. 2020. PMID: 32250540
However, in 2017, Rush et al. reported two siblings with similar phenotype in whom they found dolichol kinase deficiency (DOLK). Ultimately, our family was relocated and DNA isolated from the pathology slides of the third affected infant showed compound heter …
However, in 2017, Rush et al. reported two siblings with similar phenotype in whom they found dolichol kinase deficiency (D …
Glycosylation Pathways Targeted by Deregulated miRNAs in Autism Spectrum Disorder.
Mirabella F, Randazzo M, Rinaldi A, Pettinato F, Rizzo R, Sturiale L, Barone R. Mirabella F, et al. Int J Mol Sci. 2025 Jan 17;26(2):783. doi: 10.3390/ijms26020783. Int J Mol Sci. 2025. PMID: 39859496 Free PMC article.
A number of CDG genes and/or ASD-risk genes, including DOLK, GALNT2, and EXT1, were identified as targets, along with validated interactions involving four key miRNAs (hsa-miR-423-5p, hsa-miR-30c-5p, hsa-miR-195-5p, and hsa-miR-132-5p). ...
A number of CDG genes and/or ASD-risk genes, including DOLK, GALNT2, and EXT1, were identified as targets, along with validated inter …
18 results