(Q41106554)

English

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

scientific article published on 4 February 2013

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

26 September 2017

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

1 reference

Europe PubMed Central

PMC publication ID

26 September 2017

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Fabio Annunziata

object named as

Fabio Annunziata

3

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Pasquale Piccolo

object named as

Pasquale Piccolo

4

0 references

Jeffrey Teckman

object named as

Jeffrey Teckman

13

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Nicola Brunetti-Pierri

object named as

Nicola Brunetti-Pierri

15

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Andrea Ballabio

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Andrea Ballabio

14

0 references

Pratibha Mithbaokar

5

object named as

Pratibha Mithbaokar

1 reference

Europe PubMed Central

PMC publication ID

26 September 2017

Francesco Vetrini

7

object named as

Francesco Vetrini

1 reference

Europe PubMed Central

PMC publication ID

26 September 2017

author name string

Nunzia Pastore

1

1 reference

Europe PubMed Central

PMC publication ID

26 September 2017

Keith Blomenkamp

2

1 reference

Europe PubMed Central

PMC publication ID

26 September 2017

Rosa Maria Sepe

6

1 reference

Europe PubMed Central

PMC publication ID

26 September 2017

Donna Palmer

8

1 reference

Europe PubMed Central

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26 September 2017

Philip Ng

9

1 reference

Europe PubMed Central

PMC publication ID

26 September 2017

Elena Polishchuk

10

1 reference

Europe PubMed Central

PMC publication ID

26 September 2017

Simona Iacobacci

11

1 reference

Europe PubMed Central

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26 September 2017

Roman Polishchuk

12

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Europe PubMed Central

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26 September 2017

publication date

4 February 2013

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Europe PubMed Central

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26 September 2017

EMBO Molecular Medicine

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Europe PubMed Central

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26 September 2017

5

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Europe PubMed Central

PMC publication ID

26 September 2017

3

1 reference

Europe PubMed Central

PMC publication ID

26 September 2017

397-412

1 reference

Europe PubMed Central

PMC publication ID

26 September 2017

Guidelines for the use and interpretation of assays for monitoring autophagy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598080

26 September 2017

Balloon catheter delivery of helper-dependent adenoviral vector results in sustained, therapeutic hFIX expression in rhesus macaques

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598080

26 September 2017

A lysosome-to-nucleus signalling mechanism senses and regulates the lysosome via mTOR and TFEB

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598080

26 September 2017

Adenovirus-associated virus vector-mediated gene transfer in hemophilia B

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598080

26 September 2017

Transcriptional activation of lysosomal exocytosis promotes cellular clearance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598080

26 September 2017

TFEB links autophagy to lysosomal biogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598080

26 September 2017

Helper-dependent adenoviral vectors for liver-directed gene therapy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598080

26 September 2017

Reduction of protein translation and activation of autophagy protect against PINK1 pathogenesis in Drosophila melanogaster

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598080

26 September 2017

DJ-1 acts in parallel to the PINK1/parkin pathway to control mitochondrial function and autophagy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598080

26 September 2017

An autophagy-enhancing drug promotes degradation of mutant alpha1-antitrypsin Z and reduces hepatic fibrosis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598080

26 September 2017

Rapamycin reduces intrahepatic alpha-1-antitrypsin mutant Z protein polymers and liver injury in a mouse model

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598080

26 September 2017

Progress towards liver and lung-directed gene therapy with helper-dependent adenoviral vectors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598080

26 September 2017

Sustained transgene expression despite T lymphocyte responses in a clinical trial of rAAV1-AAT gene therapy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598080

26 September 2017

Lysosome biogenesis and lysosomal membrane proteins: trafficking meets function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598080

26 September 2017

A gene network regulating lysosomal biogenesis and function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598080

26 September 2017

Bioengineered factor IX molecules with increased catalytic activity improve the therapeutic index of gene therapy vectors for hemophilia B

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598080

26 September 2017

Efficient, long-term hepatic gene transfer using clinically relevant HDAd doses by balloon occlusion catheter delivery in nonhuman primates

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598080

26 September 2017

Autophagic disposal of the aggregation-prone protein that causes liver inflammation and carcinogenesis in alpha-1-antitrypsin deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598080

26 September 2017

Alpha-1-antitrypsin mutant Z protein content in individual hepatocytes correlates with cell death in a mouse model.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598080

26 September 2017

In vivo post-transcriptional gene silencing of alpha-1 antitrypsin by adeno-associated virus vectors expressing siRNA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598080

26 September 2017

p62/SQSTM1 binds directly to Atg8/LC3 to facilitate degradation of ubiquitinated protein aggregates by autophagy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598080

26 September 2017

Fatality in mice due to oversaturation of cellular microRNA/short hairpin RNA pathways

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598080

26 September 2017

Accumulation of mutant alpha1-antitrypsin Z in the endoplasmic reticulum activates caspases-4 and -12, NFkappaB, and BAP31 but not the unfolded protein response.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598080

26 September 2017

Alpha-1-antitrypsin deficiency: a new paradigm for hepatocellular carcinoma in genetic liver disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598080

26 September 2017

Impairment of starvation-induced and constitutive autophagy in Atg7-deficient mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598080

26 September 2017

Lifelong elimination of hyperbilirubinemia in the Gunn rat with a single injection of helper-dependent adenoviral vector

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598080

26 September 2017

Quantitative isolation of alphalAT mutant Z protein polymers from human and mouse livers and the effect of heat

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598080

26 September 2017

Gene therapy for human alpha1-antitrypsin deficiency in an animal model using SV40-derived vectors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598080

26 September 2017

Activation of endoplasmic reticulum-specific stress responses associated with the conformational disease Z alpha 1-antitrypsin deficiency.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598080

26 September 2017

Improved system for helper-dependent adenoviral vector production

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598080

26 September 2017

Translational control in the endoplasmic reticulum stress response

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598080

26 September 2017

Small cargo proteins and large aggregates can traverse the Golgi by a common mechanism without leaving the lumen of cisternae

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598080

26 September 2017

Lifetime correction of genetic deficiency in mice with a single injection of helper-dependent adenoviral vector

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598080

26 September 2017

Mitochondria recycle Ca(2+) to the endoplasmic reticulum and prevent the depletion of neighboring endoplasmic reticulum regions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598080

26 September 2017

Administration of helper-dependent adenoviral vectors and sequential delivery of different vector serotype for long-term liver-directed gene transfer in baboons

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598080

26 September 2017

Mutation in an alpha1-antitrypsin enhancer results in an interleukin-6 deficient acute-phase response due to loss of cooperativity between transcription factors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598080

26 September 2017

I kappa B epsilon, a novel member of the I kappa B family, controls RelA and cRel NF-kappa B activity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598080

26 September 2017

Coupling of a signal response domain in I kappa B alpha to multiple pathways for NF-kappa B activation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598080

26 September 2017

Replacement therapy for alpha 1-antitrypsin deficiency associated with emphysema

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598080

26 September 2017

Multiple tissues express alpha 1-antitrypsin in transgenic mice and man.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598080

26 September 2017

Accumulation of PiZ alpha 1-antitrypsin causes liver damage in transgenic mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598080

26 September 2017

Parkin mediates beclin-dependent autophagic clearance of defective mitochondria and ubiquitinated Abeta in AD models

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598080

14 June 2018

Chromosomal integration of adenoviral vector DNA in vivo.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598080

14 June 2018

Gene targeted therapeutics for liver disease in alpha-1 antitrypsin deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598080

14 June 2018

Host cell detection of noncoding stuffer DNA contained in helper-dependent adenovirus vectors leads to epigenetic repression of transgene expression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598080

14 June 2018

Electron tomography of large, multicomponent biological structures

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598080

14 June 2018

Rare deficiency types of alpha 1-antitrypsin: electrophoretic variation and DNA haplotypes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598080

14 June 2018

Sustained miRNA-mediated knockdown of mutant AAT with simultaneous augmentation of wild-type AAT has minimal effect on global liver miRNA profiles.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598080

19 August 2018

Alpha-1 antitrypsin Z protein (PiZ) increases hepatic fibrosis in a murine model of cholestasis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598080

19 August 2018

Pseudo-hydrodynamic delivery of helper-dependent adenoviral vectors into non-human primates for liver-directed gene therapy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598080

19 August 2018

Improved hepatic transduction, reduced systemic vector dissemination, and long-term transgene expression by delivering helper-dependent adenoviral vectors into the surgically isolated liver of nonhuman primates.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598080

19 August 2018

Alpha1-antitrypsin deficiency in 26-year-old subjects: lung, liver, and protease/protease inhibitor studies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598080

19 August 2018

Sustained phenotypic correction of canine hemophilia B after systemic administration of helper-dependent adenoviral vector

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598080

19 August 2018

Increased hepatic transduction with reduced systemic dissemination and proinflammatory cytokines following hydrodynamic injection of helper-dependent adenoviral vectors.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598080

19 August 2018

Phase I trial of intramuscular injection of a recombinant adeno-associated virus alpha 1-antitrypsin (rAAV2-CB-hAAT) gene vector to AAT-deficient adults

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598080

19 August 2018

Acute toxicity after high-dose systemic injection of helper-dependent adenoviral vectors into nonhuman primates.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598080

19 August 2018

Mitochondrial autophagy and injury in the liver in alpha 1-antitrypsin deficiency.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598080

19 August 2018

American Thoracic Society/European Respiratory Society statement: standards for the diagnosis and management of individuals with alpha-1 antitrypsin deficiency.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598080

19 August 2018

Fasting in alpha1-antitrypsin deficient liver: constitutive [correction of consultative] activation of autophagy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598080

19 August 2018

Risk of cirrhosis and primary liver cancer in alpha 1-antitrypsin deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/23381957

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Intracellular inclusions containing mutant alpha1-antitrypsin Z are propagated in the absence of autophagic activity

1 reference

https://pubmed.ncbi.nlm.nih.gov/23381957

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Retention of mutant alpha(1)-antitrypsin Z in endoplasmic reticulum is associated with an autophagic response

1 reference

https://pubmed.ncbi.nlm.nih.gov/23381957

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Liver Disease in Alpha1-Antitrypsin Deficiency Detected by Screening of 200,000 Infants

1 reference

https://pubmed.ncbi.nlm.nih.gov/23381957

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The natural history of liver disease in alpha 1-antitrypsin deficient children

1 reference

https://pubmed.ncbi.nlm.nih.gov/23381957

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

High prevalence of alpha-1-antitrypsin heterozygosity in children with chronic liver disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/23381957

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Increased risk of chronic liver failure in adults with heterozygous alpha1-antitrypsin deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/23381957

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A simplified method for the analysis of hydroxyproline in biological tissues

1 reference

https://pubmed.ncbi.nlm.nih.gov/23381957

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Preventing and reversing the cellular consequences of Z alpha-1 antitrypsin accumulation by targeting s4A

1 reference

https://pubmed.ncbi.nlm.nih.gov/23381957

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1002/EMMM.201202046

1 reference

Europe PubMed Central

PMC publication ID

26 September 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

26 September 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

26 September 2017

ResearchGate publication ID

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