Article

Impact of pathogenic mutations of the GLUT1 glucose transporter on solute carrier dynamics using ComDYN enhanced sampling

2022-06-13

Abstract excerpt

<h4>Background: </h4> The solute carrier (SLC) family of membrane proteins is a large class of transporters for many small molecules that are vital for cellular function. Several pathogenic mutations are reported in the glucose transporter subfamily SLC2, causing Glut1-deficiency syndrome (GLUT1DS1, GLUT1DS2), epilepsy (EIG2) and cryohydrocytosis with neurological defects (Dystonia-9). Understanding the link betwe...

Topics

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

Identifiers and source

Literature Corpus work: 6e1901d5-a4fa-5564-a611-49b377e30c73
DOI: 10.12688/f1000research.18553.2

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Impact of pathogenic mutations of the GLUT1 glucose transporter on solute carrier dynamics using ComDYN enhanced samplingDOI 10.12688/f1000research.18553.2Read

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

Recent Studies of Mitochondrial SLC25: Integration of Experimental and Computational Approaches.Semantic proximity Read

Mechanistic Insights into the Substrate Egress Pathways of Human Glucose Transporters GLUT1 and GLUT9Semantic proximity Read

The in-silico evaluation of important GLUT9 residue for uric acid transport based on renal hypouricemia type 2.Semantic proximity Read

The transport pathway in the ABCG2 protein and its regulation revealed by molecular dynamics simulations.Semantic proximity Read

An Integrated Computational Framework to Assess the Mutational Landscape of α-L-Iduronidase IDUA Gene.Semantic proximity Read

In-silico screening and microsecond molecular dynamics simulations to identify single point mutations that destabilize β-hexosaminidase A causing Tay-Sachs disease.Semantic proximity Read

Molecular and functional characterization of a SUR1 mutation underlying dual glucose dysregulation.Semantic proximity Read

Quantifying the Structural and Energetic Consequences of EXOSC3 S1 Domain Variants from a Comparative Assessment of λ-Dynamics with Two Charge-Changing Perturbation StrategiesSemantic proximity Read

Molecular dynamics of the pathogenic KCNQ2 variant G256W reveal mechanisms of channel dysfunction in epileptic encephalopathySemantic proximity Read

Molecular dynamics simulations reveal molecular mechanisms for the gain and loss of function effects of four <i>SCN2A</i> variantsSemantic proximity Read

Computational identification of pathogenic associated nsSNPs and its structural impact in UROD gene: a molecular dynamics approach.Semantic proximity Read