Article

Reconfiguration of interdomain communication in hexokinase 1: A molecular basis for NEDVIBA childhood neurodevelopmental disorder

2026-06-03

Abstract excerpt

<title>Abstract</title> <p>NEDVIBA is a rare neurodevelopmental disorder caused by mutations in hexokinase 1 (HK1), the enzyme responsible for the first step of glucose metabolism in the brain. Fewer than 30 children have been diagnosed worldwide, and the molecular basis of the disease has remained unknown. Here, we use computer simulations to investigate how the T457M mutation, identified in a child with NEDVIBA...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: ba6b8edf-e7b6-5310-9b42-17d036dcd651
DOI: 10.21203/rs.3.rs-9441083/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Reconfiguration of interdomain communication in hexokinase 1: A molecular basis for NEDVIBA childhood neurodevelopmental disorderDOI 10.21203/rs.3.rs-9441083/v1Read

Expanding the neurodevelopmental phenotype associated with HK1 de novo heterozygous missense variants.Semantic proximity Read

Evolution of Protein Regulation in the Vertebrate Glucose SensorSemantic proximity Read

The catalytic inactivation of the N-half of human hexokinase 2 and structural and biochemical characterization of its mitochondrial conformation.Semantic proximity Read

Function of interdomain alpha-helix in human brain hexokinase: covalent linkage and catalytic regulation between N- and C-terminal halves.Semantic proximity Read

Identification of a phosphate regulatory site and a low affinity binding site for glucose 6-phosphate in the N-terminal half of human brain hexokinase.Semantic proximity Read

Dual allosteric activation mechanisms in monomeric human glucokinase.Semantic proximity Read

Structural model of human glucokinase in complex with glucose and ATP: implications for the mutants that cause hypo- and hyperglycemia.Semantic proximity Read

Simulations of Pathogenic E1α Variants: Allostery and Impact on Pyruvate Dehydrogenase Complex-E1 Structure and FunctionSemantic proximity Read

Novel mutation in hexokinase 2 confers resistance to 2-deoxyglucose by altering protein dynamics.Semantic proximity Read

State-dependent network connectivity determines gating in a K+ channel.Semantic proximity Read

Effect of the R126C mutation on the structure and function of the glucose transporter GLUT1: A molecular dynamics simulation study.Semantic proximity Read

Structural basis of complex formation between mitochondrial anion channel VDAC1 and Hexokinase-II.Semantic proximity Read