A genome-wide meta-analysis yields 46 new loci associating with biomarkers of iron homeostasis

S Bell, AS Rigas, MK Magnusson… - Communications …, 2021 - nature.com
Iron is essential for many biological functions and iron deficiency and overload have major
health implications. We performed a meta-analysis of three genome-wide association …

The energy-less red blood cell is lost: erythrocyte enzyme abnormalities of glycolysis

R Van Wijk, WW Van Solinge - Blood, 2005 - ashpublications.org
The red blood cell depends solely on the anaerobic conversion of glucose by the Embden-
Meyerhof pathway for the generation and storage of high-energy phosphates, which is …

Non-coding variants disrupting a tissue-specific regulatory element in HK1 cause congenital hyperinsulinism

MN Wakeling, NDL Owens, JR Hopkinson… - Nature …, 2022 - nature.com
Gene expression is tightly regulated, with many genes exhibiting cell-specific silencing
when their protein product would disrupt normal cellular function. This silencing is largely …

Common Variants at 10 Genomic Loci Influence Hemoglobin A1C Levels via Glycemic and Nonglycemic Pathways

N Soranzo, S Sanna, E Wheeler, C Gieger, D Radke… - Diabetes, 2010 - Am Diabetes Assoc
OBJECTIVE Glycated hemoglobin (HbA1c), used to monitor and diagnose diabetes, is
influenced by average glycemia over a 2-to 3-month period. Genetic factors affecting …

Inborn defects in the antioxidant systems of human red blood cells

R Van Zwieten, AJ Verhoeven, D Roos - Free Radical Biology and …, 2014 - Elsevier
Red blood cells (RBCs) contain large amounts of iron and operate in highly oxygenated
tissues. As a result, these cells encounter a continuous oxidative stress. Protective …

Multiple nonglycemic genomic loci are newly associated with blood level of glycated hemoglobin in East Asians

P Chen, F Takeuchi, JY Lee, H Li, JY Wu, J Liang… - Diabetes, 2014 - Am Diabetes Assoc
Glycated hemoglobin A1c (HbA1c) is used as a measure of glycemic control and also as a
diagnostic criterion for diabetes. To discover novel loci harboring common variants …

Molecular basis of erythroenzymopathies associated with hereditary hemolytic anemia: tabulation of mutant enzymes

S Miwa, H Fujii - American journal of hematology, 1996 - Wiley Online Library
Molecular abnormalities of erythroenzymopathies associated with hereditary hemolytic
anemia have been determined by means of molecular biology. Pyruvate kinase (PK) …

Redox regulation of hexokinases

P Heneberg - Antioxidants & redox signaling, 2019 - liebertpub.com
Significance: Hexokinases are key enzymes that are responsible for the first reaction of
glycolysis, but they also moonlight other cellular processes, including mitochondrial redox …

[HTML][HTML] A dominant mutation in hexokinase 1 (HK1) causes retinitis pigmentosa

LS Sullivan, DC Koboldt, SJ Bowne… - … & visual science, 2014 - tvst.arvojournals.org
Purpose.: To identify the cause of retinitis pigmentosa (RP) in UTAD003, a large, six-
generation Louisiana family with autosomal dominant retinitis pigmentosa (adRP). Methods …

A mutation in an alternative untranslated exon of hexokinase 1 associated with hereditary motor and sensory neuropathy–Russe (HMSNR)

J Hantke, D Chandler, R King, RJA Wanders… - European journal of …, 2009 - nature.com
Abstract Hereditary Motor and Sensory Neuropathy–Russe (HMSNR) is a severe autosomal
recessive disorder, identified in the Gypsy population. Our previous studies mapped the …