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
doaj +5 more sources
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
doaj +7 more sources
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
doaj +5 more sources
SERPINA1 is a new frontier in cancer immunotherapy and drug targeting by pan-cancer analysis
Discover OncologyBackground The immune response can be modulated by autophagy to alter tumor growth. SERPINA1 is not only an autophagy-related protein but also a serine protease inhibitor with the potential for immunotherapy and targeted drug therapy.
Chen Fu +3 more
exaly +3 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
doaj +3 more sources
Identification and characterisation of eight novel SERPINA1 null mutations. [PDF]
Orphanet Journal of Rare Diseases, 2014 BackgroundAlpha-1 antitrypsin (AAT) is the most abundant circulating antiprotease and is a member of the serine protease inhibitor (SERPIN) superfamily. The gene encoding AAT is the highly polymorphic SERPINA1 gene, found at 14q32.1.
Kevin Molloy (7950671) +10 more
core +11 more sources
Serpina1 (alpha1-AT) is synthesized in the osteoblastic stem cell niche. [PDF]
Experimental Hematology, 2009 OBJECTIVE: Previously, we identified Serpina1 as a potent inhibitor of hematopoietic stem and progenitor cell (HSC/HPC) mobilization. Serpina1 protein is found in the bone marrow (BM) extracellular fluid and concentrations are decreased during ...
Fibbe, W.E. +4 more
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SERPINA1 Peptides in Urine as A Potential Marker of Preeclampsia Severity [PDF]
International Journal of Molecular Sciences, 2020 Preeclampsia (PE) is a multisystem disorder associated with pregnancy and its frequency varies from 5 to 20 percent of pregnancies. Although a number of preeclampsia studies have been carried out, there is no consensus about disease etiology and ...
Vladimir Frankevich +9 more
core +3 more sources
SERPINA1 PiZ and PiS heterozygotes and lung function decline in the SAPALDIA cohort [PDF]
PLoS ONE, 2012 BACKGROUND: Severe alpha1-antitrypsin (AAT) deficiency is a strong risk factor for COPD. But the impact of gene variants resulting in mild or intermediate AAT deficiency on the longitudinal course of respiratory health remains controversial.
Margaret Gerbase +64 more
core +7 more sources
Alternative transcripts of the SERPINA1 gene in alpha-1 antitrypsin deficiency [PDF]
Journal of Translational Medicine, 2015 BACKGROUND: SERPINA1 is the gene for alpha-1 antitrypsin (AAT), an acute phase protein with anti-protease and immunoregulatory activities. Mutations in SERPINA1 gene cause AAT deficiency and predispose individuals to early-onset emphysema and liver ...
Barquin M. +32 more
core +6 more sources