CSF SerpinA1 in Creutzfeldt–Jakob disease and frontotemporal lobar degeneration [PDF]
Annals of Clinical and Translational Neurology, 2020 Objective SerpinA1 (alpha‐1 antitrypsin) is an acute inflammatory protein, which seems to play a role in neurodegeneration and neuroinflammation. In Alzheimer’s disease and synucleinopathies, SerpinA1 is overexpressed in the brain and the cerebrospinal ...
Samir Abu‐Rumeileh +8 more
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Exogenous alpha 1-antitrypsin down-regulates SERPINA1 expression. [PDF]
PLoS ONE, 2017 The main goal of the therapy with purified human plasma alpha1-antitrypsin (A1AT) is to increase A1AT levels and to prevent lungs from elastolytic activity in patients with PiZZ (Glu342Lys) A1AT deficiency-related emphysema.
Ahmad Karadagi +14 more
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SERPINA1 mRNA as a Treatment for Alpha-1 Antitrypsin Deficiency
Journal of Nucleic Acids, 2018 Alpha-1-antitrypsin (AAT) deficiency is a genetic disorder that produces inactive/defective AAT due to mutations in the SERPINA1 gene encoding AAT.
Brendan Connolly +4 more
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Discover OncologyPurpose Previous studies have suggested that SERPINA1 may promote a better prognosis in papillary thyroid carcinoma (PTC) along with Hashimoto's thyroiditis (HT).
Chen Wanjun
exaly +2 more sources
Functional and clinical significance of novel SERPINA1 variants on alpha-1 antitrypsin deficiency [PDF]
Respiratory ResearchBackground Mutations in the SERPINA1 gene can result in alpha-1 antitrypsin deficiency (AATD), which may be associated with lung or liver injury. Although the S and Z alleles account for over 95% of cases of AATD, a wide variety of rare variants have ...
Nerea Matamala +22 more
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Prevalence of SERPINA1 mutations in a bronchiectasis cohort: implications of extended screening for alpha-1 antitrypsin deficiency [PDF]
Jornal Brasileiro de PneumologiaObjective: To evaluate the prevalence of alpha-1 antitrypsin (AAT) variants through SERPINA1 genotyping in patients with non-cystic fibrosis bronchiectasis, and assess their clinical, functional and radiological characteristics.
Caroline Souza Sokoloski +3 more
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Case Report: Pseudomonas liver abscess in a previously healthy child with homozygous pathogenic S allele variant of the SERPINA1 gene [PDF]
Frontiers in ImmunologyBackgroundPyogenic liver abscess is an uncommon pediatric condition, and Pseudomonas aeruginosa represents a rare causative agent in otherwise healthy children. Such infections may signal an underlying inborn error of immunity. Alpha-1 antitrypsin (A1AT),
Sanya Thomas +11 more
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Misfolding linked mutations of SERPINA1 gene are uncommon in preeclampsia
Archives of Medicine and Health Sciences, 2019 Background: Alpha-1 antitrypsin (A1AT) is a protease inhibitor that plays an important role in regulating oxidative stress in preeclampsia (PE). Recent studies have shown that A1AT is misfolded in PE.
Chandrakala Nagarajappa +2 more
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Characterization of a novel SERPINA1 variant carrying two missense mutations: molecular mechanisms and functional impact [PDF]
Orphanet Journal of Rare DiseasesAlpha 1-Antitrypsin Deficiency (AATD) is a rare genetic disorder caused by mutations in the SERPINA1 gene, which encodes the Alpha 1-Antitrypsin (AAT) protein.
Celine Leon +25 more
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Genetic drivers of liver cirrhosis: The role of SERPINA1 and PNPLA3 variants in disease onset and progression. [PDF]
PLoS ONESERPINA1 Z and PNPLA3 G alleles are the most potent genetic risk modifiers in chronic liver disease (CLD) progression. We aimed to test the impact of concomitant carriage of these variants on the progression of CLDs of various aetiology.
Mikolas Holinka +13 more
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