Single nucleotide polymorphism-mediated translational suppression of endoplasmic reticulum mannosidase I modifies the onset of end-stage liver disease in alpha1-antitrypsin deficiency.
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Cholestatic liver disease in childrenHistone deacetylase inhibitor (HDACi) suberoylanilide hydroxamic acid (SAHA)-mediated correction of α1-antitrypsin deficiencyLiver tumors in children with metabolic disordersAlpha-1-antitrypsin deficiencyA Golgi-localized mannosidase (MAN1B1) plays a non-enzymatic gatekeeper role in protein biosynthetic quality control.New Concepts in Alpha-1 Antitrypsin Deficiency Disease Mechanisms.Genome-wide study of percent emphysema on computed tomography in the general population. The Multi-Ethnic Study of Atherosclerosis Lung/SNP Health Association Resource Study.Prevalence of genetic polymorphisms in the promoter region of the alpha-1 antitrypsin (SERPINA1) gene in chronic liver disease: a case control studyModeling inherited metabolic disorders of the liver using human induced pluripotent stem cells.ERAD defects and the HFE-H63D variant are associated with increased risk of liver damages in Alpha 1-Antitrypsin DeficiencyZ α1-antitrypsin confers a proinflammatory phenotype that contributes to chronic obstructive pulmonary diseaseERManI is a target of miR-125b and promotes transformation phenotypes in hepatocellular carcinoma (HCC)Z α-1 antitrypsin deficiency and the endoplasmic reticulum stress response.Golgi localization of ERManI defines spatial separation of the mammalian glycoprotein quality control system.PiZ mouse liver accumulates polyubiquitin conjugates that associate with catalytically active 26S proteasomesActivating transcription factor 6 limits intracellular accumulation of mutant α(1)-antitrypsin Z and mitochondrial damage in hepatoma cells.Diagnosis and management of patients with α1-antitrypsin (A1AT) deficiency.Impaired hepcidin expression in alpha-1-antitrypsin deficiency associated with iron overload and progressive liver disease.Baseline Analysis of a Young α-1-Antitrypsin Deficiency Liver Disease Cohort Reveals Frequent Portal Hypertension.The endosomal protein-sorting receptor sortilin has a role in trafficking α-1 antitrypsinDisorders of protein misfolding: alpha-1-antitrypsin deficiency as prototype.Endoplasmic reticulum polymers impair luminal protein mobility and sensitize to cellular stress in alpha1-antitrypsin deficiencyα1-antitrypsin Deficiency: A Misfolded Secretory Protein Variant with Unique Effects on the Endoplasmic Reticulum.Mysteries of α1-antitrypsin deficiency: emerging therapeutic strategies for a challenging disease.Intracellular processing of alpha1-antitrypsin.Hepatic fibrosis and carcinogenesis in α1-antitrypsin deficiency: a prototype for chronic tissue damage in gain-of-function disorders.α(1)-antitrypsin deficiency and inflammation.The role of proteases, endoplasmic reticulum stress and SERPINA1 heterozygosity in lung disease and α-1 anti-trypsin deficiency.Novel treatment strategies for liver disease due to α1-antitrypsin deficiency.Liver disease in alpha-1 antitrypsin deficiency: current understanding and future therapy.Broad spectrum of hepatocyte inclusions in humans, animals, and experimental models.Advances in alpha-1-antitrypsin deficiency liver disease.Alpha-1 antitrypsin and liver disease: mechanisms of injury and novel interventions.Emergence of a stage-dependent human liver disease signature with directed differentiation of alpha-1 antitrypsin-deficient iPS cells.Mechanisms underlying the cellular clearance of antitrypsin Z: lessons from yeast expression systems.Proteostasis: a new therapeutic paradigm for pulmonary disease.Prevalence and risk factors for liver involvement in individuals with PiZZ-related lung disease.SERPINA1 and MAN1B1 polymorphisms are not linked to severe liver disease in a French cohort of alpha-1 antitrypsin deficiency children.Liver Disease in Alpha-1 Antitrypsin Deficiency: Current Approaches and Future Directions.
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P2860
Single nucleotide polymorphism-mediated translational suppression of endoplasmic reticulum mannosidase I modifies the onset of end-stage liver disease in alpha1-antitrypsin deficiency.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on July 2009
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Single nucleotide polymorphism ...... alpha1-antitrypsin deficiency.
@en
Single nucleotide polymorphism ...... alpha1-antitrypsin deficiency.
@nl
type
label
Single nucleotide polymorphism ...... alpha1-antitrypsin deficiency.
@en
Single nucleotide polymorphism ...... alpha1-antitrypsin deficiency.
@nl
prefLabel
Single nucleotide polymorphism ...... alpha1-antitrypsin deficiency.
@en
Single nucleotide polymorphism ...... alpha1-antitrypsin deficiency.
@nl
P2093
P2860
P356
P1433
P1476
Single nucleotide polymorphism ...... alpha1-antitrypsin deficiency.
@en
P2093
Farshid Rouhani
Mark Brantly
Richard Gibbs
Richard N Sifers
Shujuan Pan
P2860
P304
P356
10.1002/HEP.22974
P407
P577
2009-07-01T00:00:00Z