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 …
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 …
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 …
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
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 …
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 …
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
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 …
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) …
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 …
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 …
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 …
recessive disorder, identified in the Gypsy population. Our previous studies mapped the …