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

Combination of genetic screening and molecular dynamics as a useful tool for identification of disease-related mutations: ZASP PDZ domain G54S mutation case.

Journal of chemical information and modeling - 27 May 2014

Fratev Filip, Mihaylova Elina, Pajeva Ilza

Abstract excerpt

Cypher/ZASP (LDB3 gene) is known to interact with a network of proteins. It binds to α-actinin and the calcium voltage channels (LTCC) via its PDZ domain. Here we report the identification of a highly conserved ZASP G54S mutation classified as a variant of unknown significance in a sample of an a...

Read the complete abstract on PubMed

Topics

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

Share to Adaptor Proteins, Signal Transducing
Share to Cardiomyopathy, Hypertrophic
Share to Computational Biology

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Computer Simulation

Share to Genetic Testing

Share to LIM Domain Proteins

Share to Molecular Dynamics Simulation

Share to PDZ Domains

Source

Identifiers

PMID: 24730657
DOI: 10.1021/ci5001136

Genes

LDB3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24730657-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Combination of genetic screening and molecular dynamics as a useful tool for identification of disease-related mutations: ZASP PDZ domain G54S mutation case.PMID 24730657Read ↗

Influence of V54M mutation in giant muscle protein titin: a computational screening and molecular dynamics approach.Semantic proximity Read ↗

Redistribution of sidechain-sidechain interactions govern ligand-specific binding affinity changes in missense Shank1 PDZ variantsSemantic proximity Read ↗

LIM Domain-Wide Comprehensive Virtual Mutagenesis Provides Structural Rationale for Cardiomyopathy Mutations in CSRP3Semantic proximity Read ↗

Thermodynamic destabilization informs pathogenicity assessment of a variant of uncertain significance in cardiac myosin binding protein CSemantic proximity Read ↗

Conserved intramolecular networks in GDAP1 are closely connected to CMT-linked mutations and protein stabilitySemantic proximity Read ↗

Molecular modeling in the age of clinical genomics, the enterprise of the next generation.Semantic proximity Read ↗

Protein molecular modeling techniques investigating novel TAB 2 variant R347X causing cardiomyopathy and congenital heart defects in multigenerational familySemantic proximity Read ↗

Impact of disease-causing mutations on inter-domain interactions in cMyBP-C: a steered molecular dynamics study.Semantic proximity Read ↗

[Comparison on molecular characteristics of human gamma D-crystallin protein and its five mutations].Semantic proximity Read ↗

A computational study of the fold and stability of cytochrome c with implications for diseaseSemantic proximity Read ↗

A Comparative Molecular Dynamics Study of Selected Point Mutations in the Shwachman-Bodian-Diamond Syndrome Protein SBDS.Semantic proximity Read ↗

Protein Thermodynamic Destabilization in the Assessment of Pathogenicity of a Variant of Uncertain Significance in Cardiac Myosin Binding Protein C.Semantic proximity Read ↗

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