Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Elucidating the functional impact of G137V and G144R variants in Maroteaux Lamy's Syndrome by Molecular Dynamics Simulation.

Molecular diversity - 1 Aug 2024

Madhana Priya N, Archana Pai P, Thirumal Kumar D, Gnanasambandan R, Magesh R

Abstract excerpt

Mucopolysaccharidoses VI (Maroteaux Lamy syndrome) is a metabolic disorder due to the loss of enzyme activity of N-acetyl galactosamine-4-sulphatase arising from mutations in the ARSB gene. The mutated ARSB is the origin for the accumulation of GAGs within the lysosome leading to severe growth deformities, causing lysosomal storage disease. The main focus of this study is to identify the deleterious variants by...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Amino Acid Substitution
Share to Molecular Docking Simulation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Molecular Dynamics Simulation

Share to Mutation

Share to Mutation, Missense

Share to Protein Binding

Share to Protein Conformation

Source

Identifiers

PMID: 37458922
DOI: 10.1007/s11030-023-10694-8

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Elucidating the functional impact of G137V and G144R variants in Maroteaux Lamy's Syndrome by Molecular Dynamics Simulation.PMID 37458922Read ↗

Molecular Modeling of N-Acetylglucosamine Binding to the I154R Mutant of NAGLU: Pathogenic Insights into Sanfilippo Syndrome Type B.Semantic proximity Read ↗

Bioinformatics classification of mutations in patients with Mucopolysaccharidosis IIIASemantic proximity Read ↗

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

Structural Analysis of G1691S Variant in the Human Filamin B Gene Responsible for Larsen Syndrome: A Comparative Computational Approach.Semantic proximity Read ↗

Computational Insights into the Deleterious Impacts of Missense Variants on N-Acetyl-d-glucosamine Kinase Structure and Function.Semantic proximity Read ↗

A computational approach to analyse the amino acid variants of GLB1 protein causing GM1 Gangliosidosis.Semantic proximity Read ↗

Identification of a Novel ARSA Gene Mutation Through High-Throughput Molecular Diagnosis Method in Two Girls with Late Infantile Metachromatic Leukodystrophy.Semantic proximity Read ↗

Structural and functional consequences of non-synonymous SNPs within the LAMA2 protein: a molecular dynamics perspective.Semantic proximity Read ↗

Computational analysis of human N-acetylgalactosamine-6-sulfate sulfatase enzyme: an update in genotype-phenotype correlation for Morquio A.Semantic proximity Read ↗

An extensive computational approach to analyze and characterize the functional mutations in the galactose-1-phosphate uridyl transferase (GALT) protein responsible for classical galactosemia.Semantic proximity Read ↗

In silico analysis of mutations occurring in the protein N-acetylgalactosamine-6-sulfatase (GALNS) and causing mucopolysaccharidosis IVA.Semantic proximity Read ↗

Computational insights of K1444N substitution in GAP-related domain of NF1 gene associated with neurofibromatosis type 1 disease: a molecular modeling and dynamics approach.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.