Results 51 to 60 of about 10,821 (196)

Novel RNA-binding activity of NQO1 promotes SERPINA1 mRNA translation [PDF]

Free Radical Biology and Medicine, 2016
NAD(P)H: quinone oxidoreductase (NQO1) is essential for cell defense against reactive oxidative species, cancer, and metabolic stress. Recently, NQO1 was found in ribonucleoprotein (RNP) complexes, but NQO1-interacting mRNAs and the functional impact of such interactions are not known.
Andrea, Di Francesco, Clara, Di Germanio, Amaresh C, Panda, Phu, Huynh, Robert, Peaden, Ignacio, Navas-Enamorado, Paul, Bastian, Elin, Lehrmann, Alberto, Diaz-Ruiz, David, Ross, David, Siegel, Jennifer L, Martindale, Michel, Bernier, Myriam, Gorospe, Kotb, Abdelmohsen, Rafael, de Cabo   +15 more
openaire   +2 more sources

Characterization of three new SERPINA1 variants PiQ0Heidelberg II, PiQ0Heidelberg III and PiQ0Heidelberg IV in patients with severe alpha-1 antitrypsin deficiency

Respiratory Medicine Case Reports, 2023
Background: The clinical and molecular characteristics of three patients with previously unreported SERPINA1 mutations associated with severe alpha-1 antitrypsin deficiency (AATD) are described.
Philipp Höger, Martina Veith, Timm Greulich, Eldridge Limen, Judith Brock, Kai Schlamp, Katharina Buschulte, Maria A. Presotto, Julia Carmen Schäfer, Felix Herth, Franziska C. Trudzinski   +10 more
doaj   +1 more source

SERPINA1 gene identified in RNA-Seq showed strong association with milk protein concentration in Chinese Holstein cows [PDF]

PeerJ, 2020
The detection of candidate genes and mutations associated with phenotypic traits is important for livestock animals. A previous RNA-Seq study revealed that SERPINA1 gene was a functional candidate that may affect milk protein concentration in dairy cows.
Cong Li, Wentao Cai, Shuli Liu, Chenghao Zhou, Hongwei Yin, Dongxiao Sun, Shengli Zhang   +6 more
doaj   +2 more sources

The impact of smoke exposure on the clinical phenotype of alpha-1 antitrypsin deficiency in Ireland: exploiting a national registry to understand a rare disease. [PDF]

, 2015
Individuals with Alpha-1 antitrypsin deficiency (AATD) have mutations in the SERPINA1 gene causing genetic susceptibility to early onset lung and liver disease that may result in premature death.
Carroll, Tomás P, Fee, Laura T, Logan, P Mark, McElvaney, Noel G, O\u27Brien, M Emmett, O\u27Connor, Catherine, Pennycooke, Kevin, Reeves, Emer P, Shum, Jonathan   +8 more
core   +2 more sources

Alternative transcripts of the SERPINA1 gene in alpha-1 antitrypsin deficiency [PDF]

Journal of Translational Medicine, 2015
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 diseases. Expression of the SERPINA1 gene is regulated by different promoters and alternative splicing events among ...
Matamala N., Martinez M. T., Lara B., Perez L., Vazquez I., LOZANO JIMENEZ, ANDRES, Barquin M., Ferrarotti I., Blanco I., Janciauskiene S., Martinez-Delgado B.   +10 more
openaire   +4 more sources

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, Sheela Shikaripur Rangappa, Sharath Balakrishna   +2 more
doaj   +1 more source

Identification of Pharmacological Autophagy Regulators of Active Ulcerative Colitis

Frontiers in Pharmacology, 2021
Background: Ulcerative colitis (UC) is a chronic recurrent disease of unknown etiology. Recently, it has been reported that autophagy-related gene polymorphism is closely associated with increased risk of UC, and the therapeutic effect of some UC drugs ...
Peishan Qiu, Peishan Qiu, Lan Liu, Lan Liu, Jun Fang, Jun Fang, Meng Zhang, Meng Zhang, Haizhou Wang, Haizhou Wang, Yanan Peng, Yanan Peng, Min Chen, Min Chen, Jing Liu, Jing Liu, Fan Wang, Fan Wang, Qiu Zhao, Qiu Zhao   +19 more
doaj   +1 more source

ERAD Component MoHrd3 Facilitates Pathogenicity and Establishes a Direct Regulation on Autophagy in Magnaporthe Oryzae

Advanced Science, EarlyView.
MoHrd3 plays a crucial role in regulating the pathogenicity of Magnaporthe oryzae. As an ER‐associated degradation component, MoHrd3 involves in ER stress‐triggered autophagy. It facilitates the fusion between the autophagosome and the vacuole via enhancing the interaction between MoAtg8 and MoYpt7.
Huiqing Xia, Yunna Zheng, Nan Yang, Jing Chen, Xi Wu, Ximing Zheng, Danrui Cui, Ruijin Wang, Xunli Lu, Dongli Wang, You‐liang Peng, Qian Chen   +11 more
wiley   +1 more source

The Distribution of Alpha-1 Antitrypsin Genotypes Between Patients with COPD/Emphysema, Asthma and Bronchiectasis

International Journal of COPD, 2020
Martina Veith,1 Julia Tüffers,1 Erika Peychev,1 Andreas Klemmer,1 Viktor Kotke,1 Sabina Janciauskiene,2 Susanne Wilhelm,1 Robert Bals,3 Andreas Rembert Koczulla,4 Claus Franz Vogelmeier,1 Timm Greulich1 1Department of Medicine, Pulmonary and ...
Veith M, Tüffers J, Peychev E, Klemmer A, Kotke V, Janciauskiene S, Wilhelm S, Bals R, Koczulla AR, Vogelmeier CF, Greulich T   +10 more
doaj  

Does urinary peptide content differ between COPD patients with and without inherited alpha-1 antitrypsin deficiency? [PDF]

, 2017
Differentiating between chronic obstructive pulmonary disease (COPD) patients with normal (PiMM) or deficient (PiZZ) genetic variants of alpha-1 antitrypsin (A1AT) is important not only for understanding the pathobiology of disease progression but also ...
Carleo, Alfonso, Chorostowska-Wynimko, Joanna, Czajkowska-Malinowska, Małgorzata, Janciauskiene, Sabina, Koeck, Thomas, Mischak, Harald, Rozy, Adriana, Welte, Tobias   +7 more
core   +2 more sources