Results 171 to 180 of about 10,966 (204)

In Vitro and In Vivo Effects of SerpinA1 on the Modulation of Transthyretin Proteolysis [PDF]

open access: yesInternational Journal of Molecular Sciences, 2021
Transthyretin (TTR) proteolysis has been recognized as a complementary mechanism contributing to transthyretin-related amyloidosis (ATTR amyloidosis). Accordingly, amyloid deposits can be composed mainly of full-length TTR or contain a mixture of both cleaved and full-length TTR, particularly in the heart.
Filipa Bezerra   +2 more
exaly   +6 more sources

Specific Cerebrospinal Fluid SerpinA1 Isoform Pattern in Alzheimer’s Disease

open access: yesInternational Journal of Molecular Sciences, 2022
SerpinA1 (α1-antitrypsin) is a soluble glycoprotein, the cerebrospinal fluid (CSF) isoforms of which showed disease-specific changes in neurodegenerative disorders that are still unexplored in Alz-heimer’s disease (AD). By means of capillary isoelectric focusing immunoassay, we investigated six serpinA1 isoforms in CSF samples of controls (n = 29), AD ...
Lorenzo Barba   +2 more
exaly   +3 more sources

Granularity ofSERPINA1alleles by DNA sequencing in CanCOLD

European Respiratory Journal, 2020
DNA sequencing of theSERPINA1gene to detect α1-antitrypsin (AAT) deficiency (AATD) may provide a better appreciation of the individual and cumulative impact of genetic variants on AAT serum levels and COPD phenotypes.AAT serum level and DNA sequencing of the coding regions ofSERPINA1were performed in 1359 participants of the Canadian Cohort Obstructive
Nisha Gupta   +9 more
openaire   +2 more sources

SERPINA1, generalized pustular psoriasis, and adult‐onset immunodeficiency

The Journal of Dermatology, 2021
AbstractAdult‐onset immunodeficiency syndrome (AOID) with anti‐interferon (IFN)‐γ autoantibodies is characterized by an AIDS‐like illness with disruptive IFN‐γ signaling. Patients generally present with recurrent and disseminated opportunistic infections along with neutrophilic dermatoses.
Piranit Kantaputra   +11 more
openaire   +3 more sources

Functional characterization of the mouse Serpina1 paralog DOM-7

Biological Chemistry, 2018
Abstract The generation of authentic mouse-models for human α1-antitrypsin (A1AT)-deficiency is difficult due to the high complexity of the mouse Serpina1 gene locus. Depending on the exact mouse strain, three to five paralogs are expressed, with different proteinase inhibitory properties.
Karen Jülicher   +10 more
openaire   +2 more sources

SERPINA1 Gene Variants in Granulomatosis with Polyangiitis

2018
Alpha-1 antitrypsin (A1AT) deficiency is one of the most common genetic disorders in Caucasian population. There is a link between granulomatosis with polyangiitis (GPA) and most frequent variants of SERPINA1 gene encoding severe alpha-1 antitripsin deficiency.
Malgorzata, Hadzik-Blaszczyk   +8 more
openaire   +2 more sources

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