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

Disease-causing mutations in proteins: structural analysis of the CYP1B1 mutations causing primary congenital glaucoma in humans.

Biophysical journal - 15 Dec 2006

Achary Malkaram S, Reddy Aramati B M, Chakrabarti Subhabrata, Panicker Shirly G, Mandal Anil K, Ahmed Niyaz, Balasubramanian Dorairajan, Hasnain Seyed E, Nagarajaram Hampapathalu A

Abstract excerpt

In this communication, we report an in-depth structure-based analysis of the human CYP1b1 protein carrying disease-causing mutations that are discovered in patients suffering from primary congenital glaucoma (PCG). The "wild-type" and the PCG mutant structures of the human CYP1b1 protein obtained from comparative modeling were subjected to long molecular dynamics simulations with an intention of studying the...

Read the complete abstract on PubMed

Topics

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

Share to Aryl Hydrocarbon Hydroxylases
Share to Binding Sites

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Computer Simulation

Share to Cytochrome P-450 CYP1B1

Share to Cytochrome P-450 Enzyme System

Share to Glaucoma

Share to Models, Molecular

Share to Protein Conformation

Source

Open in PubMed Open full text

Identifiers

PMID: 16963504
DOI: 10.1529/biophysj.106.085498
PMCID: PMC1779944

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Disease-causing mutations in proteins: structural analysis of the CYP1B1 mutations causing primary congenital glaucoma in humans.PMID 16963504Read ↗

Bioinformatics analysis of CYP1B1 mutation hotspots in Chinese primary congenital glaucoma patients.Semantic proximity Read ↗

Screening of high-risk deleterious missense variations in the CYP1B1 gene implicated in the pathogenesis of primary congenital glaucoma: A comprehensive in silico approach.Semantic proximity Read ↗

Functional and Structural Analyses of CYP1B1 Variants Linked to Congenital and Adult-Onset Glaucoma to Investigate the Molecular Basis of These Diseases.Semantic proximity Read ↗

Characterization of the biochemical and structural phenotypes of four CYP1B1 mutations observed in individuals with primary congenital glaucoma.Semantic proximity Read ↗

Effects of disease causing mutations on the essential motions in proteins.Semantic proximity Read ↗

Compound heterozygous mutations in CYP1B1 gene leads to severe primary congenital glaucoma phenotypeSemantic proximity Read ↗

Molecular genetics of primary congenital glaucoma.Semantic proximity Read ↗

Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme.Semantic proximity Read ↗

Mutational analysis of CYP1B1 gene in Iranian pedigrees with glaucoma reveals known and novel mutations.Semantic proximity Read ↗

Meta-analysis of CYP1B1 gene mutations in primary congenital glaucoma patients.Semantic proximity Read ↗

Identification of four novel cytochrome P4501B1 mutations (p.I94X, p.H279D, p.Q340H, and p.K433K) in primary congenital glaucoma patients.Semantic proximity Read ↗

Mutations in the CYP1B1 gene may contribute to juvenile-onset open-angle glaucoma.Semantic proximity Read ↗

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