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

Exploring Deleterious Nonsynonymous SNPs in the ACADM Gene: Insights Into Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) via In Silico Analysis.

Genetics research - 1 Jan 2026

Iqbal Muhammad Waleed, Shahab Muhammad, Dabiellil Fakhreldeen, Bin Jardan Yousef A, Bourhia Mohammed, Sun Xinxiao, Yuan Qipeng

Abstract excerpt

Medium-chain acyl-CoA dehydrogenase deficiency (MCADD), a potentially lethal metabolic disorder, is often associated with single-nucleotide polymorphisms (SNPs) in the acyl-CoA dehydrogenase, medium-chain (ACADM) gene. The current research investigates the structural and functional implications of these genetic variants through diverse bioinformatics techniques. A range of in silico techniques were utilized to...

Read the complete abstract on PubMed

Topics

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

Share to Acyl-CoA Dehydrogenase
Share to Computer Simulation

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Lipid Metabolism, Inborn Errors

Share to Molecular Docking Simulation

Share to Molecular Dynamics Simulation

Share to Mutation

Share to Polymorphism, Single Nucleotide

Source

Open in PubMed Open full text

Identifiers

PMID: 41767627
DOI: 10.1155/genr/6682668
PMCID: PMC12948724

Genes

ACADM

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 25 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Exploring Deleterious Nonsynonymous SNPs in the ACADM Gene: Insights Into Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) via In Silico Analysis.PMID 41767627Read ↗

Medium-chain acyl-CoA deficiency: outlines from newborn screening, in silico predictions, and molecular studies.Semantic proximity Read ↗

Analysis of gene mutations of medium-chain acyl-coenzyme a dehydrogenase deficiency (MCADD) by next-generation sequencing in Henan, China.Semantic proximity Read ↗

Novel ACADVL variants resulting in mitochondrial defects in long-chain acyl-CoA dehydrogenase deficiency.Semantic proximity Read ↗

Mutations in the medium chain acyl-CoA dehydrogenase (MCAD) gene.Semantic proximity Read ↗

Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency.Semantic proximity Read ↗

Three novel variants identified in genes causing Isobutyryl-CoA dehydrogenase deficiency in seven unrelated Chinese familiesSemantic proximity Read ↗

Functional and structural impact of 10 ACADM missense mutations on human medium chain acyl-Coa dehydrogenase.Semantic proximity Read ↗

Four novel variants identified in genes causing very-long-chain acyl-coenzyme A dehydrogenase deficiency in four unrelated Chinese familiesSemantic proximity Read ↗

Protein misfolding is the molecular mechanism underlying MCADD identified in newborn screeningSemantic proximity Read ↗

The molecular basis of medium chain acyl-CoA dehydrogenase deficiency: survey and evolution of 985A----G transition, and identification of five rare types of mutation within the medium chain acyl-CoA dehydrogenase gene.Semantic proximity Read ↗

The epidemiology of medium chain acyl-CoA dehydrogenase deficiency: an update.Semantic proximity Read ↗

Diverse and unselected adults with clinically relevant ACADS variants lack evidence of metabolic disease.Semantic proximity Read ↗

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