Alpha 1-Antitrypsin Deficiency: A Disorder of Proteostasis-Mediated Protein Folding and Trafficking Pathways

The proteostasis network and its decline in ageing

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Tezacaftor and ivacaftor for the treatment of cystic fibrosis

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ER‐to‐lysosome‐associated degradation of proteasome‐resistant ATZ polymers occurs via receptor‐mediated vesicular transport

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ER-phagy at a glance

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Clinical and histologic features of adults with alpha-1 antitrypsin deficiency in a non-cirrhotic cohort

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Liver disease related to alpha1-antitrypsin deficiency in French children: the DEFI-ALPHA cohort

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Pathways of cellular proteostasis in aging and disease

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ERAD defects and the HFE-H63D variant are associated with increased risk of liver damages in Alpha 1-Antitrypsin Deficiency

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Molecular Mechanism of Z α1-Antitrypsin Deficiency

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Update on alpha-1 antitrypsin deficiency: New therapies

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Is severe progressive liver disease caused by alpha-1-antitrypsin deficiency more common in children or adults?

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α1-Antitrypsin deficiency

(2016) Catherine M. Greene et al.   Nature Reviews Disease Primers

A single-chain variable fragment intrabody prevents intracellular polymerization of Z α1-antitrypsin while allowing its antiproteinase activity

(2015) Adriana Ordóñez et al.   FASEB JOURNAL

Association of the SEL1L protein transmembrane domain with HRD1 ubiquitin ligase regulates ERAD-L

(2015) Nobuko Hosokawa et al.   FEBS Journal

Proteostasis control by the unfolded protein response

(2015) Claudio Hetz et al.   NATURE CELL BIOLOGY

Le déficit en alpha-1 antitrypsine : modèle d’altération de l’homéostasie protéique ou protéostasie

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Mysteries of  1-antitrypsin deficiency: emerging therapeutic strategies for a challenging disease

(2014) R. Ghouse et al.   Disease Models & Mechanisms

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

(2014) Linda P. O'Reilly et al.   HUMAN MOLECULAR GENETICS

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

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Cystic fibrosis genetics: from molecular understanding to clinical application

(2014) Garry R. Cutting   NATURE REVIEWS GENETICS

Observation of an ExcitedBc±Meson State with the ATLAS Detector

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Fluphenazine Reduces Proteotoxicity in C. elegans and Mammalian Models of Alpha-1-Antitrypsin Deficiency

(2014) Jie Li et al.   PLoS One

PiZ Mouse Liver Accumulates Polyubiquitin Conjugates That Associate with Catalytically Active 26S Proteasomes

(2014) Christopher J. Haddock et al.   PLoS One

Potentiator ivacaftor abrogates pharmacological correction of  F508 CFTR in cystic fibrosis

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Regulation of Endoplasmic Reticulum-Associated Protein Degradation (ERAD) by Ubiquitin

(2014) Leticia Lemus et al.   Cells

Autophagy master regulator TFEB induces clearance of toxic SERPINA1/α-1-antitrypsin polymers

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Protein quality control and elimination of protein waste: The role of the ubiquitin–proteasome system

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Regulation of proteasome activity in health and disease

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The molecular and cellular pathology of α1-antitrypsin deficiency

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Proteostasis, an Emerging Therapeutic Paradigm for Managing Inflammatory Airway Stress Disease

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Endoplasmic reticulum polymers impair luminal protein mobility and sensitize to cellular stress in alpha1-antitrypsin deficiency

(2012) Adriana Ordóñez et al.   HEPATOLOGY

Histone Deacetylase Inhibitor (HDACi) Suberoylanilide Hydroxamic Acid (SAHA)-mediated Correction of α1-Antitrypsin Deficiency

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How the Serpin α1-Proteinase Inhibitor Folds

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Molecular basis of α1-antitrypsin deficiency revealed by the structure of a domain-swapped trimer

(2011) Masayuki Yamasaki et al.   EMBO REPORTS

Derlin-1 is a rhomboid pseudoprotease required for the dislocation of mutant α-1 antitrypsin from the endoplasmic reticulum

(2011) Ethan J Greenblatt et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

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

(2010) Shalesh Kaushal et al.   EXPERIMENTAL BIOLOGY AND MEDICINE

The ubiquitin ligase Hrd1 promotes degradation of the Z variant alpha 1-antitrypsin and increases its solubility

(2010) Haiping Wang et al.   MOLECULAR AND CELLULAR BIOCHEMISTRY

Neutrophil Elastase, Proteinase 3, and Cathepsin G as Therapeutic Targets in Human Diseases

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Defining the mechanism of polymerization in the serpinopathies

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An Autophagy-Enhancing Drug Promotes Degradation of Mutant  1-Antitrypsin Z and Reduces Hepatic Fibrosis

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Emergent Properties of Proteostasis in Managing Cystic Fibrosis

(2010) W. E. Balch et al.   Cold Spring Harbor Perspectives in Biology

Single nucleotide polymorphism-mediated translational suppression of endoplasmic reticulum mannosidase I modifies the onset of end-stage liver disease in alpha1-antitrypsin deficiency

(2009) Shujuan Pan et al.   HEPATOLOGY

Autophagy in aging, disease and death: the true identity of a cell death impostor

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Identification of ERGIC-53 as an intracellular transport receptor of α1-antitrypsin

(2008) Beat Nyfeler et al.   JOURNAL OF CELL BIOLOGY

OS-9 and GRP94 deliver mutant α1-antitrypsin to the Hrd1–SEL1L ubiquitin ligase complex for ERAD

(2008) John C. Christianson et al.   NATURE CELL BIOLOGY

Adapting Proteostasis for Disease Intervention

(2008) William E. Balch et al.   SCIENCE