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

A C. elegans model of human α1-antitrypsin deficiency links components of the RNAi pathway to misfolded protein turnover.

Human molecular genetics - 1 Oct 2014

Long Olivia S, Benson Joshua A, Kwak Joon Hyeok, Luke Cliff J, Gosai Sager J, O'Reilly Linda P, Wang Yan, Li Jie, Vetica Anne C, Miedel Mark T, Stolz Donna B, Watkins Simon C, Züchner Stephan, Perlmutter David H, Silverman Gary A, Pak Stephen C

Abstract excerpt

The accumulation of serpin oligomers and polymers within the endoplasmic reticulum (ER) causes cellular injury in patients with the classical form α1-antitrypsin deficiency (ATD). To better understand the cellular and molecular genetic aspects of this disorder, we generated transgenic C. elegans...

Read the complete abstract on PubMed

Topics

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

Share to alpha 1-Antitrypsin
Share to alpha 1-Antitrypsin Deficiency

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Endoplasmic Reticulum

Share to Endoplasmic Reticulum-Associated Degradation

Share to Proteolysis

Share to Proteostasis Deficiencies

Share to Serpins

Share to Sodium-Hydrogen Exchangers

Source

Open in PubMed Open full text

Identifiers

PMID: 24838286
DOI: 10.1093/hmg/ddu235
PMCID: PMC4159155

Genes

ATM

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24838286-2026-09-04.2. 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

A C. elegans model of human α1-antitrypsin deficiency links components of the RNAi pathway to misfolded protein turnover.PMID 24838286Read ↗

Deficient and Null Variants of SERPINA1 Are Proteotoxic in a Caenorhabditis elegans Model of α1-Antitrypsin Deficiency.Semantic proximity Read ↗

Expression of the Z Variant of α1-Antitrypsin Suppresses Hepatic Cholesterol Biosynthesis in Transgenic ZebrafishSemantic proximity Read ↗

Hyperactive 20S Proteasome Enhances Proteostasis and ERAD in <i>C. elegans</i> via degradation of Intrinsically Disordered ProteinsSemantic proximity Read ↗

Multiple Genes Core to ERAD, Macroautophagy and Lysosomal Degradation Pathways Participate in the Proteostasis Response in α1-Antitrypsin DeficiencySemantic proximity Read ↗

A genome-wide RNAi screen identifies potential drug targets in a C. elegans model of α1-antitrypsin deficiency.Semantic proximity Read ↗

Novel Transgenic Humanized Alpha-1 Antitrypsin Deficiency Mouse Model on Murine <i>SERPINA1</i> Null BackgroundSemantic proximity Read ↗

Natural variants in <i>C. elegans atg-5</i> 3’UTR uncover divergent effects of autophagy on polyglutamine aggregation in different tissuesSemantic proximity Read ↗

C. elegans Model Identifies Genetic Modifiers of α-Synuclein Inclusion Formation During AgingSemantic proximity Read ↗

New Concepts in Alpha-1 Antitrypsin Deficiency Disease Mechanisms.Semantic proximity Read ↗

A secreted microRNA disrupts autophagy in distinct tissues of Caenorhabditis elegans upon ageingSemantic proximity Read ↗

Protective role of DNJ-27/ERdj5 in Caenorhabditis elegans models of human neurodegenerative diseases.Semantic proximity Read ↗

Intracellular inclusions containing mutant alpha1-antitrypsin Z are propagated in the absence of autophagic activity.Semantic proximity Read ↗

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