Articles with "mevalonate kinase" as a keyword



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Directed evolution of mevalonate kinase in Escherichia coli by random mutagenesis for improved lycopene

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Published in 2018 at "RSC Advances"

DOI: 10.1039/c8ra01783b

Abstract: Lycopene is a terpenoid pigment that has diverse applications in the fields of food and medicine. Metabolic engineering in microbial hosts has shown that mevalonate kinase (MK, EC2.7.1.366) is one of the rate-limiting enzymes in… read more here.

Keywords: directed evolution; escherichia coli; mevalonate kinase; mevalonate ... See more keywords
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Lack of Prenylated Proteins, Autophagy Impairment and Apoptosis in SH-SY5Y Neuronal Cell Model of Mevalonate Kinase Deficiency

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Published in 2017 at "Cellular Physiology and Biochemistry"

DOI: 10.1159/000471235

Abstract: Background/Aims: Mevalonate Kinase Deficiency (MKD), is a hereditary disease due to mutations in mevalonate kinase gene (MVK). MKD has heterogeneous clinical phenotypes: the correlation between MVK mutations and MKD clinical phenotype is still to be… read more here.

Keywords: prenylated proteins; kinase deficiency; cell; mevalonate kinase ... See more keywords
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A case report of mevalonate kinase deficiency in a 14-month-old female with fevers and lower extremity weakness

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Published in 2019 at "BMC Pediatrics"

DOI: 10.1186/s12887-019-1617-1

Abstract: BackgroundThis case follows a 14-month-old female, who despite multiple presentations to several physicians, continued to have recurrent febrile episodes with gross motor delay. Her case revealed an often missed diagnosis of Mevalonate Kinase Deficiency, that… read more here.

Keywords: mevalonate kinase; old female; month old; case ... See more keywords
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Spectrum of clinical features and genetic variants in mevalonate kinase (MVK) gene of South Indian families suffering from Hyperimmunoglobulin D Syndrome

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Published in 2020 at "PLoS ONE"

DOI: 10.1371/journal.pone.0237999

Abstract: Hyper-IgD syndrome (HIDS, OMIM #260920) is a rare autosomal recessive autoinflammatory disorder caused by pathogenic variants in the mevalonate kinase (MVK) gene. HIDS has an incidence of 1:50,000 to 1:5,000, and is thought to be… read more here.

Keywords: mvk gene; mevalonate kinase; kinase mvk; variants mevalonate ... See more keywords
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PBA Preferentially Impairs Cell Survival of Glioblastomas Carrying mutp53 by Reducing Its Expression Level, Stabilizing wtp53, Downregulating the Mevalonate Kinase and Dysregulating UPR

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Published in 2020 at "Biomolecules"

DOI: 10.3390/biom10040586

Abstract: Phenylbutyrate (PBA) is a derivative of Butyric Acid (BA), which has the characteristics of being a histone deacetylase (HDAC) inhibitor and acting as a chemical chaperone. It has the potential to counteract a variety of… read more here.

Keywords: expression level; mevalonate kinase; pba; mutp53 ... See more keywords