Literature DB >> 23664631

Disorders of protein misfolding: alpha-1-antitrypsin deficiency as prototype.

Gary A Silverman1, Stephen C Pak, David H Perlmutter.   

Abstract

Entities:  

Keywords:  AT; ATD; ATM; ATZ; Alpha-1-antitrypsin; Alpha-1-antitrypsin deficiency; CBZ; COPD; Carbamazepine; Chronic obstructive pulmonary disease; ER; Endoplasmic reticulum; FDA; Federal Drug Administration; Mutant alpha-1-antitrypsin Z; Normal (wild type) alpha-1-antitrypsin; PBA; Phenylbutyric acid; RNA interference; RNAi; SNP; Single nucleotide polymorphism

Mesh：

Year:  2013        PMID： 23664631      PMCID： PMC3725216          DOI： 10.1016/j.jpeds.2013.03.077

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


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  42 in total

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Journal:  J Biol Chem       Date:  2005-12-19       Impact factor: 5.157

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

Authors:  Tunda Hidvegi; Bela Z Schmidt; Pamela Hale; David H Perlmutter
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6.  Small molecule regulators of autophagy identified by an image-based high-throughput screen.

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7.  Small molecules block the polymerization of Z alpha1-antitrypsin and increase the clearance of intracellular aggregates.

Authors:  Meera Mallya; Russell L Phillips; S Adrian Saldanha; Bibek Gooptu; Sarah C Leigh Brown; Daniel J Termine; Arash M Shirvani; Ying Wu; Richard N Sifers; Ruben Abagyan; David A Lomas
Journal:  J Med Chem       Date:  2007-10-05       Impact factor: 7.446

8.  A polymorphism of the alpha1-antitrypsin gene represents a risk factor for liver disease.

Authors:  Sally Chappell; Nedim Hadzic; Robert Stockley; Tamar Guetta-Baranes; Kevin Morgan; Noor Kalsheker
Journal:  Hepatology       Date:  2008-01       Impact factor: 17.425

9.  Regulator of G Signaling 16 is a marker for the distinct endoplasmic reticulum stress state associated with aggregated mutant alpha1-antitrypsin Z in the classical form of alpha1-antitrypsin deficiency.

Authors:  Tunda Hidvegi; Karoly Mirnics; Pamela Hale; Michael Ewing; Caroline Beckett; David H Perlmutter
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1.  The aggregation-prone intracellular serpin SRP-2 fails to transit the ER in Caenorhabditis elegans.

Authors:  Richard M Silverman; Erin E Cummings; Linda P O'Reilly; Mark T Miedel; Gary A Silverman; Cliff J Luke; David H Perlmutter; Stephen C Pak
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2.  Characteristics of Chronic Obstructive Pulmonary Disease (COPD) Patients Reporting Alpha-1 Antitrypsin Deficiency in the WebMD Lung Health Check Database.

Authors:  Tyler McGrady; David M Mannino; Elisha Malanga; Byron M Thomashow; John Walsh; Robert A Sandhaus; James K Stoller
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Review 5.  Long-term clinical outcomes following treatment with alpha 1-proteinase inhibitor for COPD associated with alpha-1 antitrypsin deficiency: a look at the evidence.

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7.  Knockdown of Alpha-1 Antitrypsin with antisense oligonucleotide does not exacerbate smoke induced lung injury.

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Review 8.  Drug discovery: Insights from the invertebrate Caenorhabditis elegans.

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  9 in total

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