Free Access
Issue |
Med Sci (Paris)
Volume 30, Number 10, Octobre 2014
|
|
---|---|---|
Page(s) | 889 - 895 | |
Section | M/S Revues | |
DOI | https://doi.org/10.1051/medsci/20143010016 | |
Published online | 14 October 2014 |
- Hunt LT, Dayhoff MO. A surprising new protein superfamily containing ovalbumin, antithrombin-III, and alpha 1-proteinase inhibitor. Biochem Biophys Res Commun 1980 ; 95 : 864–871. [CrossRef] [PubMed] [Google Scholar]
- Silverman GA, Bird PI, Carrell RW, et al. The serpins are an expanding superfamily of structurally similar but functionally diverse proteins Evolution, mechanism of inhibition, novel functions, and a revised nomenclature. J Biol Chem 2001 ; 276 : 33293–33296. [CrossRef] [PubMed] [Google Scholar]
- Cichy J, Potempa J, Travis J. Biosynthesis of alpha1-proteinase inhibitor by human lung-derived epithelial cells. J Biol Chem 1997 ; 272 : 8250–8255. [CrossRef] [PubMed] [Google Scholar]
- Venembre P, Boutten A, Seta N, et al. Secretion of alpha 1-antitrypsin by alveolar epithelial cells. FEBS Lett 1994 ; 346 : 171–174. [CrossRef] [PubMed] [Google Scholar]
- Paakko P, Kirby M, du Bois RM, et al. Activated neutrophils secrete stored alpha 1-antitrypsin. Am J Respir Crit Care Med 1996 ; 154 : 1829–1833. [CrossRef] [PubMed] [Google Scholar]
- Mornex JF, Chytil-Weir A, Martinet Y, et al. Expression of the alpha-1-antitrypsin gene in mononuclear phagocytes of normal and alpha-1-antitrypsin-deficient individuals. J Clin Invest 1986 ; 77 : 1952–1961. [CrossRef] [PubMed] [Google Scholar]
- Bouchecareilh M, Balch WE. Proteostasis, an emerging therapeutic paradigm for managing inflammatory airway stress disease. Curr Mol Med 2012 ; 12 : 815–826. [CrossRef] [PubMed] [Google Scholar]
- Baugh RJ, Travis J. Human leukocyte granule elastase: rapid isolation and characterization. Biochemistry 1976 ; 15 : 836–841. [CrossRef] [PubMed] [Google Scholar]
- Gooptu B, Ekeowa UI, Lomas DA. Mechanisms of emphysema in alpha1-antitrypsin deficiency: molecular and cellular insights. Eur Respir J 2009 ; 34 : 475–488. [CrossRef] [PubMed] [Google Scholar]
- Bouchecareilh M, Balch WE. Proteostasis: a new therapeutic paradigm for pulmonary disease. Proc Am Thorac Soc 2011 ; 8 : 189–195. [CrossRef] [PubMed] [Google Scholar]
- Stoller JK, Aboussouan LS. A review of alpha1-antitrypsin deficiency. Am J Respir Crit Care Med 2012 ; 185 : 246–259. [CrossRef] [PubMed] [Google Scholar]
- Gooptu B, Dickens JA, Lomas DA. The molecular and cellular pathology of alpha1-antitrypsin deficiency. Trends Mol Med 2014 ; 20 : 116–127. [PubMed] [Google Scholar]
- Ghouse R, Chu A, Wang Y, Perlmutter DH. Mysteries of alpha1-antitrypsin deficiency: emerging therapeutic strategies for a challenging disease. Dis Model Mech 2014 ; 7 : 411–419. [CrossRef] [PubMed] [Google Scholar]
- Laurell CB, Eriksson S. The electrophoretic alpha-1-globulin pattern of serum in alpha-1-antitrypsin deficiency. Scand J Clin Lab Invest 1963 ; 15 : 132–140. [CrossRef] [Google Scholar]
- Sharp HL, Bridges RA, Krivit W, Freier EF. Cirrhosis associated with alpha-1-antitrypsin deficiency: a previously unrecognized inherited disorder. J Lab Clin Med 1969 ; 73 : 934–939. [PubMed] [Google Scholar]
- Perlmutter DH. Liver injury in alpha1-antitrypsin deficiency: an aggregated protein induces mitochondrial injury. J Clin Invest 2002 ; 110 : 1579–1583. [CrossRef] [PubMed] [Google Scholar]
- Perlmutter DH. Alpha-1-antitrypsin deficiency: importance of proteasomal and autophagic degradative pathways in disposal of liver disease-associated protein aggregates. Annu Rev Med 2011 ; 62 : 333–345. [CrossRef] [PubMed] [Google Scholar]
- Ogushi F, Fells GA, Hubbard RC, et al. Z-type alpha 1-antitrypsin is less competent than M1-type alpha 1-antitrypsin as an inhibitor of neutrophil elastase. J Clin Invest 1987 ; 80 : 1366–1374. [CrossRef] [PubMed] [Google Scholar]
- Bouchecareilh M, Hutt DM, Szajner P, et al. Histone deacetylase inhibitor (HDACi) suberoylanilide hydroxamic acid (SAHA)-mediated correction of alpha1-antitrypsin deficiency. J Biol Chem 2012 ; 287 : 38265–38278. [CrossRef] [PubMed] [Google Scholar]
- Cameron PH, Chevet E, Pluquet O, et al. Calnexin phosphorylation attenuates the release of partially misfolded alpha1-antitrypsin to the secretory pathway. J Biol Chem 2009 ; 284 : 34570–34579. [CrossRef] [PubMed] [Google Scholar]
- Granell S, Baldini G, Mohammad S, et al. Sequestration of mutated alpha1-antitrypsin into inclusion bodies is a cell-protective mechanism to maintain endoplasmic reticulum function. Mol Biol Cell 2008 ; 19 : 572–586. [CrossRef] [PubMed] [Google Scholar]
- Qu D, Teckman JH, Omura S, Perlmutter DH. Degradation of a mutant secretory protein, alpha1-antitrypsin Z, in the endoplasmic reticulum requires proteasome activity. J Biol Chem 1996 ; 271 : 22791–22795. [CrossRef] [PubMed] [Google Scholar]
- Marcus NY, Perlmutter DH. Glucosidase and mannosidase inhibitors mediate increased secretion of mutant alpha1 antitrypsin Z. J Biol Chem 2000 ; 275 : 1987–1992. [CrossRef] [PubMed] [Google Scholar]
- Schmidt BZ, Perlmutter DH. Grp78, Grp94, and Grp170 interact with alpha1-antitrypsin mutants that are retained in the endoplasmic reticulum. Am J Physiol Gastrointest Liver Physiol 2005 ; 289 : G444–G455. [CrossRef] [PubMed] [Google Scholar]
- Papp E, Szaraz P, Korcsmaros T, Csermely P. Changes of endoplasmic reticulum chaperone complexes, redox state, and impaired protein disulfide reductase activity in misfolding alpha1-antitrypsin transgenic mice. FASEB J 2006 ; 20 : 1018–1020. [CrossRef] [PubMed] [Google Scholar]
- Nyfeler B, Reiterer V, Wendeler MW, et al. Identification of ERGIC-53 as an intracellular transport receptor of alpha1-antitrypsin. J Cell Biol 2008 ; 180 : 705–712. [CrossRef] [PubMed] [Google Scholar]
- Zhang B, Zheng C, Zhu M, et al. Mice deficient in LMAN1 exhibit FV and FVIII deficiencies and liver accumulation of alpha1-antitrypsin. Blood 2011 ; 118 : 3384–3391. [CrossRef] [PubMed] [Google Scholar]
- Crowther DC, Belorgey D, Miranda E, et al. Practical genetics: alpha-1-antitrypsin deficiency and the serpinopathies. Eur J Hum Genet 2004 ; 12 : 167–172. [CrossRef] [PubMed] [Google Scholar]
- Marciniak SJ, Lomas DA. Alpha1-antitrypsin deficiency and autophagy. N Engl J Med 2010 ; 363 : 1863–1864. [CrossRef] [PubMed] [Google Scholar]
- Piitulainen E, Carlson J, Ohlsson K, Sveger T. Alpha1-antitrypsin deficiency in 26-year-old subjects: lung, liver, and protease/protease inhibitor studies. Chest 2005 ; 128 : 2076–2081. [CrossRef] [PubMed] [Google Scholar]
- Pan S, Huang L, McPherson J, et al. Single nucleotide polymorphism-mediated translational suppression of endoplasmic reticulum mannosidase I modifies the onset of end-stage liver disease in alpha1-antitrypsin deficiency. Hepatology 2009 ; 50 : 275–281. [CrossRef] [PubMed] [Google Scholar]
- Hidvegi T, Ewing M, Hale P, et al. An autophagy-enhancing drug promotes degradation of mutant alpha1-antitrypsin Z and reduces hepatic fibrosis. Science 2010 ; 329 : 229–232. [CrossRef] [PubMed] [Google Scholar]
- Gelling CL, Dawes IW, Perlmutter DH, et al. The endosomal protein-sorting receptor sortilin has a role in trafficking alpha-1 antitrypsin. Genetics 2012 ; 192 : 889–903. [CrossRef] [PubMed] [Google Scholar]
- Hidvegi T, Schmidt BZ, Hale P, Perlmutter DH. Accumulation of mutant alpha1-antitrypsin Z in the endoplasmic reticulum activates caspases-4 and -12, NFkappaB, and BAP31 but not the unfolded protein response. J Biol Chem 2005 ; 280 : 39002–39015. [CrossRef] [PubMed] [Google Scholar]
- Bouchecareilh M, Chevet E. Stress du réticulum endoplasmique : une réponse pour éviter le pIRE. Med Sci (Paris) 2009 ; 25 : 281–287. [CrossRef] [EDP Sciences] [PubMed] [Google Scholar]
- Smith SE, Granell S, Salcedo-Sicilia L, et al. Activating transcription factor 6 limits intracellular accumulation of mutant alpha1-antitrypsin Z and mitochondrial damage in hepatoma cells. J Biol Chem 2011 ; 286 : 41563–41577. [CrossRef] [PubMed] [Google Scholar]
- Carroll TP, Greene CM, O’Connor CA, et al. Evidence for unfolded protein response activation in monocytes from individuals with alpha-1 antitrypsin deficiency. J Immunol 2010 ; 184 : 4538–4546. [CrossRef] [PubMed] [Google Scholar]
- Lawless MW, Greene CM, Mulgrew A, et al. Activation of endoplasmic reticulum-specific stress responses associated with the conformational disease Z alpha 1-antitrypsin deficiency. J Immunol 2004 ; 172 : 5722–5726. [CrossRef] [PubMed] [Google Scholar]
- Miranda E, Perez J, Ekeowa UI, et al. A novel monoclonal antibody to characterize pathogenic polymers in liver disease associated with alpha1-antitrypsin deficiency. Hepatology 2010 ; 52 : 1078–1088. [CrossRef] [PubMed] [Google Scholar]
- Mahadeva R, Atkinson C, Li Z, et al. Polymers of Z alpha1-antitrypsin co-localize with neutrophils in emphysematous alveoli and are chemotactic in vivo. Am J Pathol 2005 ; 166 : 377–386. [CrossRef] [PubMed] [Google Scholar]
- Alam S, Li Z, Janciauskiene S, Mahadeva R. Oxidation of Z alpha1-antitrypsin by cigarette smoke induces polymerization: a novel mechanism of early-onset emphysema. Am J Respir Cell Mol Biol 2011 ; 45 : 261–269. [CrossRef] [PubMed] [Google Scholar]
- Burrows JA, Willis LK, Perlmutter DH. Chemical chaperones mediate increased secretion of mutant alpha 1-antitrypsin (alpha 1-AT) Z: a potential pharmacological strategy for prevention of liver injury and emphysema in alpha 1-AT deficiency. Proc Natl Acad Sci USA 2000 ; 97 : 1796–1801. [CrossRef] [Google Scholar]
- Mendre C, Mouillac B. Chaperons pharmacologiques : un espoir thérapeutique pour les pathologies conformationnelles. Med Sci (Paris) 2010 ; 26 : 627–635. [CrossRef] [EDP Sciences] [PubMed] [Google Scholar]
- Kelly WK, O’Connor OA, Krug LM, et al. Phase I study of an oral histone deacetylase inhibitor, suberoylanilide hydroxamic acid, in patients with advanced cancer. J Clin Oncol 2005 ; 23 : 3923–3931. [CrossRef] [PubMed] [Google Scholar]
- Choi SM, Kim Y, Shim JS, et al. Efficient drug screening and gene correction for treating liver disease using patient-specific stem cells. Hepatology 2013 ; 57 : 2458–2468. [CrossRef] [PubMed] [Google Scholar]
- Li J, Pak SC, O’Reilly LP, et al. Fluphenazine reduces proteotoxicity in C. elegans, mammalian models of alpha-1-antitrypsin deficiency. PLoS One 2014 ; 9 : e87260. [CrossRef] [PubMed] [Google Scholar]
- Flotte TR, Mueller C. Gene therapy for alpha-1 antitrypsin deficiency. Hum Mol Genet 2011 ; 20 : R87–R92. [CrossRef] [PubMed] [Google Scholar]
- Yusa K, Rashid ST, Strick-Marchand H, et al. Targeted gene correction of alpha1-antitrypsin deficiency in induced pluripotent stem cells. Nature 2011 ; 478 : 391–394. [CrossRef] [PubMed] [Google Scholar]
- Guo S, Booten SL, Aghajan M, et al. Antisense oligonucleotide treatment ameliorates alpha-1 antitrypsin-related liver disease in mice. J Clin Invest 2014 ; 124 : 251–261. [CrossRef] [PubMed] [Google Scholar]
- Alam S, Wang J, Janciauskiene S, Mahadeva R. Preventing and reversing the cellular consequences of Z alpha-1 antitrypsin accumulation by targeting s4A. J Hepatol 2012 ; 57 : 116–124. [CrossRef] [PubMed] [Google Scholar]
- Ekeowa UI, Freeke J, Miranda E, et al. Defining the mechanism of polymerization in the serpinopathies. Proc Natl Acad Sci USA 2010 ; 107 : 17146–17151. [CrossRef] [Google Scholar]
Current usage metrics show cumulative count of Article Views (full-text article views including HTML views, PDF and ePub downloads, according to the available data) and Abstracts Views on Vision4Press platform.
Data correspond to usage on the plateform after 2015. The current usage metrics is available 48-96 hours after online publication and is updated daily on week days.
Initial download of the metrics may take a while.