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Journal Abstract Search

279 related items for PubMed ID: 24719116

  • 1. Mysteries of α1-antitrypsin deficiency: emerging therapeutic strategies for a challenging disease.
    Ghouse R, Chu A, Wang Y, Perlmutter DH.
    Dis Model Mech; 2014 Apr; 7(4):411-9. PubMed ID: 24719116
    [Abstract] [Full Text] [Related]

  • 2. Targeting intracellular degradation pathways for treatment of liver disease caused by α1-antitrypsin deficiency.
    Wang Y, Perlmutter DH.
    Pediatr Res; 2014 Jan; 75(1-2):133-9. PubMed ID: 24226634
    [Abstract] [Full Text] [Related]

  • 3. α1-antitrypsin Deficiency: A Misfolded Secretory Protein Variant with Unique Effects on the Endoplasmic Reticulum.
    Perlmutter DH.
    Endoplasmic Reticulum Stress Dis; 2016 Sep; 3(1):63-72. PubMed ID: 28217691
    [Abstract] [Full Text] [Related]

  • 4. Fluphenazine reduces proteotoxicity in C. elegans and mammalian models of alpha-1-antitrypsin deficiency.
    Li J, Pak SC, O'Reilly LP, Benson JA, Wang Y, Hidvegi T, Hale P, Dippold C, Ewing M, Silverman GA, Perlmutter DH.
    PLoS One; 2014 Sep; 9(1):e87260. PubMed ID: 24498058
    [Abstract] [Full Text] [Related]

  • 5. Multiple Genes Core to ERAD, Macroautophagy and Lysosomal Degradation Pathways Participate in the Proteostasis Response in α1-Antitrypsin Deficiency.
    Li J, Moretti F, Hidvegi T, Sviben S, Fitzpatrick JAJ, Sundaramoorthi H, Pak SC, Silverman GA, Knapp B, Filipuzzi I, Alford J, Reece-Hoyes J, Nigsch F, Murphy LO, Nyfeler B, Perlmutter DH.
    Cell Mol Gastroenterol Hepatol; 2024 Sep; 17(6):1007-1024. PubMed ID: 38336172
    [Abstract] [Full Text] [Related]

  • 6. 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.
    Burrows JA, Willis LK, Perlmutter DH.
    Proc Natl Acad Sci U S A; 2000 Feb 15; 97(4):1796-801. PubMed ID: 10677536
    [Abstract] [Full Text] [Related]

  • 7. Induced pluripotent stem cells model personalized variations in liver disease resulting from α1-antitrypsin deficiency.
    Tafaleng EN, Chakraborty S, Han B, Hale P, Wu W, Soto-Gutierrez A, Feghali-Bostwick CA, Wilson AA, Kotton DN, Nagaya M, Strom SC, Roy-Chowdhury J, Stolz DB, Perlmutter DH, Fox IJ.
    Hepatology; 2015 Jul 15; 62(1):147-57. PubMed ID: 25690322
    [Abstract] [Full Text] [Related]

  • 8. Alpha-1-antitrypsin deficiency: Genetic variations, clinical manifestations and therapeutic interventions.
    Hazari YM, Bashir A, Habib M, Bashir S, Habib H, Qasim MA, Shah NN, Haq E, Teckman J, Fazili KM.
    Mutat Res Rev Mutat Res; 2017 Jul 15; 773():14-25. PubMed ID: 28927525
    [Abstract] [Full Text] [Related]

  • 9. The role of autophagy in alpha-1-antitrypsin deficiency: a specific cellular response in genetic diseases associated with aggregation-prone proteins.
    Perlmutter DH.
    Autophagy; 2006 Jul 15; 2(4):258-63. PubMed ID: 16874089
    [Abstract] [Full Text] [Related]

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  • 11. An autophagy-enhancing drug promotes degradation of mutant alpha1-antitrypsin Z and reduces hepatic fibrosis.
    Hidvegi T, Ewing M, Hale P, Dippold C, Beckett C, Kemp C, Maurice N, Mukherjee A, Goldbach C, Watkins S, Michalopoulos G, Perlmutter DH.
    Science; 2010 Jul 09; 329(5988):229-32. PubMed ID: 20522742
    [Abstract] [Full Text] [Related]

  • 12. CHOP and c-JUN up-regulate the mutant Z α1-antitrypsin, exacerbating its aggregation and liver proteotoxicity.
    Attanasio S, Ferriero R, Gernoux G, De Cegli R, Carissimo A, Nusco E, Campione S, Teckman J, Mueller C, Piccolo P, Brunetti-Pierri N.
    J Biol Chem; 2020 Sep 18; 295(38):13213-13223. PubMed ID: 32723872
    [Abstract] [Full Text] [Related]

  • 13. Variants in autophagy genes MTMR12 and FAM134A are putative modifiers of the hepatic phenotype in α1-antitrypsin deficiency.
    Tafaleng EN, Li J, Wang Y, Hidvegi T, Soto-Gutierrez A, Locke AE, Nicholas TJ, Wang YC, Pak S, Cho MH, Silverman EK, Silverman GA, Jin SC, Fox IJ, Perlmutter DH.
    Hepatology; 2024 Oct 01; 80(4):859-871. PubMed ID: 38557779
    [Abstract] [Full Text] [Related]

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  • 15. Molecular pathogenesis of alpha-1-antitrypsin deficiency.
    Duvoix A, Roussel BD, Lomas DA.
    Rev Mal Respir; 2014 Dec 01; 31(10):992-1002. PubMed ID: 25442121
    [Abstract] [Full Text] [Related]

  • 16. Long-term clinical outcomes following treatment with alpha 1-proteinase inhibitor for COPD associated with alpha-1 antitrypsin deficiency: a look at the evidence.
    Rahaghi FF, Miravitlles M.
    Respir Res; 2017 May 30; 18(1):105. PubMed ID: 28558837
    [Abstract] [Full Text] [Related]

  • 17. α1-Antitrypsin deficiency.
    Greene CM, Marciniak SJ, Teckman J, Ferrarotti I, Brantly ML, Lomas DA, Stoller JK, McElvaney NG.
    Nat Rev Dis Primers; 2016 Jul 28; 2():16051. PubMed ID: 27465791
    [Abstract] [Full Text] [Related]

  • 18. Enhancing Autophagy with Drugs or Lung-directed Gene Therapy Reverses the Pathological Effects of Respiratory Epithelial Cell Proteinopathy.
    Hidvegi T, Stolz DB, Alcorn JF, Yousem SA, Wang J, Leme AS, Houghton AM, Hale P, Ewing M, Cai H, Garchar EA, Pastore N, Annunziata P, Kaminski N, Pilewski J, Shapiro SD, Pak SC, Silverman GA, Brunetti-Pierri N, Perlmutter DH.
    J Biol Chem; 2015 Dec 11; 290(50):29742-57. PubMed ID: 26494620
    [Abstract] [Full Text] [Related]

  • 19. Liver disease in alpha-1 antitrypsin deficiency: current understanding and future therapy.
    Teckman JH.
    COPD; 2013 Mar 11; 10 Suppl 1():35-43. PubMed ID: 23527737
    [Abstract] [Full Text] [Related]

  • 20. Regulation of PGC1α Downstream of the Insulin Signaling Pathway Plays a Role in the Hepatic Proteotoxicity of Mutant α1-Antitrypsin Deficiency Variant Z.
    Rudnick DA, Huang J, Hidvegi T, Chu AS, Hale P, Munanairi A, Dietzen DJ, Cliften PF, Tycksen E, Lutkewitte AJ, Finck BN, Pak SC, Silverman GA, Perlmutter DH.
    Gastroenterology; 2022 Jul 11; 163(1):270-284. PubMed ID: 35301011
    [Abstract] [Full Text] [Related]

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