In vivo glycerol metabolism in patients with glycerol kinase deficiency [PDF]
JIMD ReportsGlycerol kinase deficiency (GKD) is an X‐linked recessive disorder due to glycerol kinase (GK) gene mutations resulting in hyperglycerolermia, hyperglyceroluria, and “pseudohypertriglyceridemia.” In vivo glycerol metabolism has not been assessed in GKD ...
Ankit Shah +3 more
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A real-time 31P-NMR-based approach for the assessment of glycerol kinase catalyzed monophosphorylations [PDF]
MethodsX, 2021 Phosphorous-NMR is scarcely employed to evaluate enzyme kinetics of kinase driven monophosphorylations, despite of being a powerful and reliable tool to undoubtedly detect the actual phosphoryl transfer to the targeted substrate.
Wendy Escobedo-Hinojosa +2 more
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A rare co-occurrence of duchenne muscular dystrophy, congenital adrenal hypoplasia and glycerol kinase deficiency due to Xp21 contiguous gene deletion syndrome: case report [PDF]
BMC Endocrine Disorders, 2021 Background Contiguous gene deletion syndromes are rare genomic disorders caused by deletion of large segments of DNA resulting in co-occurrence of apparently unrelated multiple clinical phenotypes.
Asanka Rathnasiri +7 more
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A Novel Glycerol Kinase Gene OsNHO1 Regulates Resistance to Bacterial Blight and Blast Diseases in Rice [PDF]
Frontiers in Plant Science, 2022 Glycerol-induced resistance to various pathogens has been reported in different plants. Glycerol kinase (GK), a vital rate-limiting enzyme that catalyzes glycerol conversion to glycerol-3-phosphate (G3P), participates in responses to both abiotic and ...
Xiaorong Xiao +13 more
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Adenylosuccinate Synthase 1 Deficiency Improves Energy Metabolism by Promoting Adipose Tissue Re‐esterification via Glycerol Kinase Upregulation [PDF]
Advanced SciencePurine metabolism enzymes have a well‐established role in maintaining the nucleotide pool, thereby sustaining cellular energy homeostasis. Although reduced purine nucleotide concentrations have been reported can influence uncoupling protein 1 (UCP1 ...
Jingjing Sun +16 more
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Pseudohypertriglyceridemia in a Patient with Pancreatitis Without Evidence for Glycerol Kinase Deficiency: A Rare Case Report and Review of the Literature [PDF]
DiseasesBackground: Pseudohypertriglyceridemia (pseudo-HTG) is a condition in patients with glycerol kinase deficiency or other disorders of glycerol metabolism, as well as in individuals with alcoholism, severe liver disease, or metabolic disturbances, and ...
Jianping Zhu, Chunjuan Zhang, Rui Zhao
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Exploring a Novel Role of Glycerol Kinase 1 in Prostate Cancer PC-3 Cells [PDF]
BiomoleculesClinically, prostate cancer is infamous for its histological and molecular heterogeneity, which causes great challenges to pinpoint therapy and pharmaceutical development.
Bobae Park +5 more
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GNAT family Pat2 is required for long-term survival on glycerol and catalyzes lysine acetylation of glycerol kinase in hypersaline-adapted archaea [PDF]
mBioLysine acetylation is a widespread post-translational modification that regulates key biological processes including metabolism and chromatin dynamics, yet its roles in archaea remain poorly understood.
Heather N. Judd +8 more
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Biochemical properties of glycerol kinase from the hypersaline-adapted archaeon Haloferax volcanii [PDF]
Applied and Environmental MicrobiologyExtremophilic microorganisms are promising candidates for industrial and analytical biocatalysis. Haloferax volcanii, a halophilic archaeon that prefers glycerol over glucose, channels this substrate into central metabolism through glycerol kinase (GK ...
Karol M. Sanchez, Julie A. Maupin-Furlow
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A novel GK Ala469Val variant resulting in glycerol kinase deficiency with concurrent hepatoblastoma: A case report [PDF]
Molecular Genetics and Metabolism ReportsGlycerol kinase deficiency (GKD) is a rare X-linked condition where glycerol cannot be phosphorylated to glycerol-3-phosphate, a key component of gluconeogenesis. Clinical presentation varies widely.
Domenic Filingeri +6 more
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