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ProteomicsCharacterization of a new variant of SERPINA1 Gene Causing Alpha-1 Antitrypsin Deficiency
Alpha 1-Antitrypsin Deficiency (AATD) is a rare genetic disorder caused by mutations in the SERPINA1 gene, which encodes the Alpha 1-Antitrypsin (AAT) protein. Individuals carrying pathogenic SERPINA1 variants are predisposed to lung and liver damage. The most common AATD-associated SERPINA1 alleles...
ORGANISM(S): Homo sapiens (Human) 
2025-12-08 | PXD060960 | Pride
Aatd Alpha 1-antitrypsin deficiency Liver 
ProteomicsTitle: p62/SQSTM1- aggravates liver proteotoxicity in Z-alpha-1 antitrypsin liver disease
Liver disease in Alpha-1 antitrypsin deficiency (AATD) is caused by the toxic accumulation of mutant Z alpha-1 antitrypsin (Z-AAT) within the endoplasmic reticulum (ER) of hepatocytes. Both liver tissues from AATD patients and livers from PiZ transgenic mice expressing the human Z-AAT exhibit increa...
ORGANISM(S): Mus musculus (Mouse) 
2026-09-21 | PXD066413 | Pride
Liver Alpha 1 antitrypsin P62 
ProteomicsCELA1 and AAT deficient murine model proteome
Chymotrypsin-like elastase 1 (CELA1) is a serine protease that is neutralized by alpha-1 antitrypsin (AAT) and prevents emphysema in a murine antisense oligonucleotide model of AAT-deficient emphysema. We tested the role of CELA1 in emphysema development in this genetic model of AAT-deficiency follo...
ORGANISM(S): Mus Musculus (ncbitaxon:10090) 
2023-02-20 | MSV000091330 | MassIVE
TranscriptomicsTranscription profiling of mouse transgenics (3 mo) inducibly expresssing human alpha1-antitrypsin in the liver
In the classical form of α1antitrypsin deficiency a mutant protein accumulates in a polymerized form in the ER of liver cells causing liver damage and carcinogenesis by a gain-of-toxic function mechanism. Recent studies have indicated that the accumulation of mutant α1antitrypsin Z in the ER spec...
ORGANISM(S): Mus musculus 
2008-06-16 | E-GEOD-8599 | biostudies-arrayexpress
UnknownDeficiency Mutations of Alpha-1 Antitrypsin. Effects on Folding, Function, and Polymerization.
Not available
S-EPMC4742932 | biostudies-literature
UnknownAlpha 1 antitrypsin to treat lung disease in alpha 1 antitrypsin deficiency: recent developments and clinical implications.
Not available
S-EPMC5797472 | biostudies-literature
UnknownThe Importance of N186 in the Alpha-1-Antitrypsin Shutter Region Is Revealed by the Novel Bologna Deficiency Variant.
Not available
S-EPMC8198886 | biostudies-literature
GenomicsThe Genomic Research in Alpha-1 Antitrypsin Deficiency and Sarcoidosis Study (GRADS) Alpha-1 study [A1AT]
The Genomic Research in Alpha-1 Antitrypsin Deficiency and Sarcoidosis Study (GRADS) Alpha-1 study [A1AT]
PRJNA431285 | ENA
ProteomicsIn alpha-1 antitrypsin deficiency, loss of the mechanistic target of rapamycin complex 1 (mTORC1) causes a lethal hepatic zonation defect
Alpha1-antitrypsin (AAT) mutations lead to the retention of the otherwise secreted protein thereby giving rise to AAT deficiency (AATD). AATD-related liver disease (AATD-LD) arises due to the proteotoxic stress and is the second leading cause of mortality in AATD with no approved pharmacologic treat...
ORGANISM(S): Mus musculus (Mouse) 
2026-09-14 | PXD053427 | Pride
Alpha-1 antitrypsin Dvp Mtorc1 Liver Spatial proteomics 
TranscriptomicsTranscription profiling of mouse (6 wk) inducibly expresssing human alpha1-antitrypsin in the liver
In the classical form of α1antitrypsin deficiency a mutant protein accumulates in a polymerized form in the ER of liver cells causing liver damage and carcinogenesis by a gain-of-toxic function mechanism. Recent studies have indicated that the accumulation of mutant α1antitrypsin Z in the ER spec...
ORGANISM(S): Mus musculus 
2008-06-16 | E-GEOD-8600 | biostudies-arrayexpress
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