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

Gene transfer of master autophagy regulator TFEB results in clearance of toxic protein and correction of hepatic disease in alpha-1-anti-trypsin deficiency.

EMBO molecular medicine - 1 Mar 2013

Pastore Nunzia, Blomenkamp Keith, Annunziata Fabio, Piccolo Pasquale, Mithbaokar Pratibha, Maria Sepe Rosa, Vetrini Francesco, Palmer Donna, Ng Philip, Polishchuk Elena, Iacobacci Simona, Polishchuk Roman, Teckman Jeffrey, Ballabio Andrea, Brunetti-Pierri Nicola

Abstract excerpt

Alpha-1-anti-trypsin deficiency is the most common genetic cause of liver disease in children and liver transplantation is currently the only available treatment. Enhancement of liver autophagy increases degradation of mutant, hepatotoxic alpha-1-anti-trypsin (ATZ). We investigated the therapeutic potential of liver-directed gene transfer of transcription factor EB (TFEB), a master gene that regulates lysosomal...

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 Autophagy

Share to Basic Helix-Loop-Helix Leucine Zipper Transcription Factors

Share to Gene Transfer Techniques

Share to Lysosomes

Share to Microtubule-Associated Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 23381957
DOI: 10.1002/emmm.201202046
PMCID: PMC3598080

Genes

TFEB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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

Gene transfer of master autophagy regulator TFEB results in clearance of toxic protein and correction of hepatic disease in alpha-1-anti-trypsin deficiency.PMID 23381957Read ↗

Mitochondrial autophagy and injury in the liver in alpha 1-antitrypsin deficiency.Semantic proximity Read ↗

The Role of Autophagy in Alpha-1-Antitrypsin Deficiency: A Specific Cellular Response in Genetic Diseases Associated with Aggregation-Prone ProteinsSemantic proximity Read ↗

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

Liver disease in alpha-1 antitrypsin deficiency: current understanding and future therapy.Semantic proximity Read ↗

Autophagic disposal of the aggregation-prone protein that causes liver inflammation and carcinogenesis in alpha-1-antitrypsin deficiency.Semantic proximity Read ↗

Critical Role of TFEB-Mediated Lysosomal Biogenesis in Alcohol-Induced Pancreatitis in Mice and HumansSemantic proximity Read ↗

FBG1 Is the Final Arbitrator of A1AT-Z Degradation.Semantic proximity Read ↗

Autophagy induced by exogenous bile acids is therapeutic in a model of α-1-AT deficiency liver disease.Semantic proximity Read ↗

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

Alpha-1 antitrypsin and liver disease: mechanisms of injury and novel interventions.Semantic proximity Read ↗

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

Impaired TFEB-mediated lysosomal biogenesis promotes the development of pancreatitis in mice and is associated with human pancreatitisSemantic proximity Read ↗

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