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

New variants of alpha-1-antitrypsin: structural simulations and clinical expression.

Respiratory research - 10 Dec 2022

Gonzalez Angel, Belmonte Irene, Nuñez Alexa, Farago Georgina, Barrecheguren Miriam, Pons Mònica, Orriols Gerard, Gabriel-Medina Pablo, Rodríguez-Frías Francisco, Miravitlles Marc, Esquinas Cristina

Abstract excerpt

BACKGROUND: Alpha-1 antitrypsin deficiency (AATD) is characterized by reduced serum levels of the AAT protein and predisposes to liver and lung disease. The characterization at structural level of novel pathogenic SERPINA1 mutants coding for circulating AAT could provide novel insights into the mechanisms of AAT misfolding. The present study aimed to provide a practical framework for the identification and...

Read the complete abstract on PubMed

Topics

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

Share to Alleles
Share to alpha 1-Antitrypsin

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to alpha 1-Antitrypsin Deficiency

Share to Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 36496391
DOI: 10.1186/s12931-022-02271-8
PMCID: PMC9741788

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

New variants of alpha-1-antitrypsin: structural simulations and clinical expression.PMID 36496391Read ↗

Functional and structural impact of novel SERPINA1 variants on Alpha-1 Antitrypsin DeficiencySemantic proximity Read ↗

Functional and clinical significance of novel SERPINA1 variants on alpha-1 antitrypsin deficiency.Semantic proximity Read ↗

Computational Tools to Assist in Analyzing Effects of the SERPINA1 Gene Variation on Alpha-1 Antitrypsin (AAT).Semantic proximity Read ↗

Analysis of AlphaFold and molecular dynamics structure predictions of mutations in serpins.Semantic proximity Read ↗

Comprehensive Clinical Diagnostic Pipelines Reveal New Variants in Alpha-1 Antitrypsin Deficiency.Semantic proximity Read ↗

Analysis of AlphaFold and molecular dynamics structure predictions of mutations in serpinsSemantic proximity Read ↗

Molecular simulation unravels the amyloidogenic misfolding of nascent ApoA1 protein, driven by deleterious point mutations occurring in between 170-178 hotspot region.Semantic proximity Read ↗

Alpha-1-antitrypsin (SERPINA1) mutation spectrum: Three novel variants and haplotype characterization of rare deficiency alleles identified in Portugal.Semantic proximity Read ↗

Topography of a 2.0 A structure of alpha1-antitrypsin reveals targets for rational drug design to prevent conformational disease.Semantic proximity Read ↗

Characterisation of a type II functionally-deficient variant of alpha-1-antitrypsin discovered in the general populationSemantic proximity Read ↗

Characterization of Novel Missense Variants of SERPINA1 Gene Causing Alpha-1 Antitrypsin DeficiencySemantic proximity Read ↗

Characterisation of a type II functionally-deficient variant of alpha-1-antitrypsin discovered in the general populationSemantic proximity Read ↗

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