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Disease on EC 2.7.1.108 - dolichol kinase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Carcinoma, Hepatocellular
Cytidine 5'-triphosphate-dependent dolichol kinase and dolichol phosphatase activities and levels of dolichyl phosphate in microsomal fractions from highly differentiated human hepatomas.
Cardiomyopathy, Dilated
From discrete dilated cardiomyopathy to successful cardiac transplantation in congenital disorders of glycosylation due to dolichol kinase deficiency (DK1-CDG).
Congenital Disorders of Glycosylation
From discrete dilated cardiomyopathy to successful cardiac transplantation in congenital disorders of glycosylation due to dolichol kinase deficiency (DK1-CDG).
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
From discrete dilated cardiomyopathy to successful cardiac transplantation in congenital disorders of glycosylation due to dolichol kinase deficiency (DK1-CDG).
Cysts
Dolichol phosphorylation occurs via a CTP-dependent reaction in Artemia larvae.
dolichol kinase deficiency
Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation.
Dolichol kinase deficiency (DOLK-CDG) with a purely neurological presentation caused by a novel mutation.
Dolichol kinase deficiency (DOLK-CDG): Two new cases and expansion of phenotype.
Fatal hyperkeratosis syndrome in four siblings due to dolichol kinase deficiency.
From discrete dilated cardiomyopathy to successful cardiac transplantation in congenital disorders of glycosylation due to dolichol kinase deficiency (DK1-CDG).
Intestinal Volvulus
Dolichol kinase in Ascaris suum and Onchocerca volvulus.
Neoplasms
Cytidine 5'-triphosphate-dependent dolichol kinase and dolichol phosphatase activities and levels of dolichyl phosphate in microsomal fractions from highly differentiated human hepatomas.
Nervous System Diseases
A forward genetic screen identifies Dolk as a regulator of startle magnitude through the potassium channel subunit Kv1.1.