Alpha1-antitrypsin deficiency: An updated review
JF Mornex, J Traclet, O Guillaud, M Dechomet… - La Presse Médicale, 2023 - Elsevier
Abstract Alpha1-antitrypsin deficiency (AATD) is a rare autosomal recessive disease
associated with the homozygous Z variant of the SERPINA1 gene. Clinical expression of …
associated with the homozygous Z variant of the SERPINA1 gene. Clinical expression of …
Capturing the conversion of the pathogenic alpha-1-antitrypsin fold by ATF6 enhanced proteostasis
Genetic variation in alpha-1 antitrypsin (AAT) causes AAT deficiency (AATD) through liver
aggregation-associated gain-of-toxic pathology and/or insufficient AAT activity in the lung …
aggregation-associated gain-of-toxic pathology and/or insufficient AAT activity in the lung …
Understanding the host-pathogen evolutionary balance through Gaussian process modeling of SARS-CoV-2
S Loguercio, BC Calverley, C Wang, D Shak, P Zhao… - Patterns, 2023 - cell.com
We have developed a machine learning (ML) approach using Gaussian process (GP)-based
spatial covariance (SCV) to track the impact of spatial-temporal mutational events driving …
spatial covariance (SCV) to track the impact of spatial-temporal mutational events driving …
Tracing genetic diversity captures the molecular basis of misfolding disease
Genetic variation in human populations can result in the misfolding and aggregation of
proteins, giving rise to systemic and neurodegenerative diseases that require management …
proteins, giving rise to systemic and neurodegenerative diseases that require management …
Proteolysis and deficiency of α1-proteinase inhibitor in SARS-CoV-2 infection
OE Akbasheva, LV Spirina, DA Dyakov… - … ), Supplement Series B …, 2022 - Springer
The SARS-CoV-2 pandemic had stimulated the emergence of numerous publications on the
α1-proteinase inhibitor (α1-PI, α1-antitrypsin), especially when it was found that the regions …
α1-proteinase inhibitor (α1-PI, α1-antitrypsin), especially when it was found that the regions …
Covariant fitness clusters reveal structural evolution of SARS-CoV-2 polymerase across the human population
C Wang, N Elghobashi-Meinhardt, WE Balch - bioRxiv, 2022 - biorxiv.org
Understanding the fitness landscape of viral mutations is crucial for uncovering the
evolutionary mechanisms contributing to pandemic behavior. Here, we apply a Gaussian …
evolutionary mechanisms contributing to pandemic behavior. Here, we apply a Gaussian …
Profiling genetic diversity reveals the molecular basis for balancing function with misfolding in alpha-1 antitrypsin
Genetic variation of alpha-1 antitrypsin (AAT) is responsible for alpha-1-antitrypsin
deficiency (AATD) leading to gain-of-toxic aggregation in the liver and loss-of-function on n …
deficiency (AATD) leading to gain-of-toxic aggregation in the liver and loss-of-function on n …
[PDF][PDF] Протеолиз и дефицит α1‐протеиназного ингибитора при инфекции SARS‐CoV‐2
ОЕ Акбашева, ЛВ Спирина, ДА Дьяков… - Биомедицинская …, 2022 - scholar.archive.org
Пандемия коронавирусной инфекции дала стимул появлению многочисленных
публикаций, посвящённых α1-протеиназному ингибитору (α1-ПИ, α1-антитрипсин) …
публикаций, посвящённых α1-протеиназному ингибитору (α1-ПИ, α1-антитрипсин) …
Gaussian Process Captures the Conversion of the Pathogenic Alpha-1-Antitrypsin Fold by ATF6 Enhanced Proteostasis
S Sun, C Wang, P Zhao, G Kline… - Available at SSRN …, 2022 - papers.ssrn.com
Genetic variation in alpha-1 antitrypsin (AAT) causes AAT deficiency (AATD) through liver
aggregation-associated gain-of-toxic pathology and/or insufficient AAT activity in the lung …
aggregation-associated gain-of-toxic pathology and/or insufficient AAT activity in the lung …