Results 91 to 100 of about 24,393 (190)

Mass Spectrometry Structural Proteomics Enabled by Limited Proteolysis and Cross‐Linking

Mass Spectrometry Reviews, EarlyView.
ABSTRACT The exploration of protein structure and function stands at the forefront of life science and represents an ever‐expanding focus in the development of proteomics. As mass spectrometry (MS) offers readout of protein conformational changes at both the protein and peptide levels, MS‐based structural proteomics is making significant strides in the
Haiyan Lu, Zexin Zhu, Lauren Fields, Hua Zhang, Lingjun Li   +4 more
wiley   +1 more source

Alpha-1 antitrypsin deficiency and Pi*S and Pi*Z SERPINA1 variants are associated with asthma exacerbations

Pulmonology
Introduction and objectives Asthma is a chronic inflammatory disease of the airways. Asthma patients may experience potentially life-threatening episodic flare-ups, known as exacerbations, which may significantly contribute to the asthma burden. The Pi*S
Elena Martín-González, José M. Hernández-Pérez, José A. Pérez Pérez, Javier Pérez-García, Esther Herrera-Luis, Ruperto González-Pérez, Orelvis González-González, Elena Mederos-Luis, Inmaculada Sánchez-Machín, Paloma Poza-Guedes, Olaia Sardón, Paula Corcuera, María J. Cruz, Francisco J. González-Barcala, Carlos Martínez-Rivera, Joaquim Mullol, Xavier Muñoz, José M. Olaguibel, Vicente Plaza, Santiago Quirce, Antonio Valero, Joaquín Sastre, Javier Korta-Murua, Victoria del Pozo, Fabián Lorenzo-Díaz, Jesús Villar, María Pino-Yanes, Mario A. González-Carracedo   +27 more
doaj   +1 more source

Reduction in Synaptic Vesicle Protein Abundance but Increased Amounts of Nsg2 and Lpcat1 in Cerebral Cortices Without the Endosomal SNARE Proteins Vti1a and Vti1b

PROTEOMICS, EarlyView.
ABSTRACT Absence of the endosomal SNAREs vti1a and vti1b results in perinatal death and severe neuronal phenotypes in mice, while lack of one of these proteins results in minor phenotypes. Proteomic differences were investigated to obtain a deeper insight into processes in which vti1a and vti1b are involved.
Julia Gottschalk, Katharina Kotschnew, Julia Hahn, Thomas Patschkowski, Gabriele von Fischer von Mollard   +4 more
wiley   +1 more source

Diagnosis Of Alpha-1-antitrypsin Deficiency By Dna Analysis Of Children With Liver Disease. [PDF]

, 2015
Alpha-1-antitrypsin deficiency is a genetic disorder which is transmitted in a co-dominant, autosomal form. Alpha-1-antitrypsin deficiency affects mainly the lungs and the liver leading, in the latter case, to neonatal cholestasis, chronic hepatitis or ...
Bertuzzo, C S, De Tommaso, A M, Escanhoela, C A, Hessel, G, Rossi, C L, Serra, H G   +5 more
core   +3 more sources

Distinct emphysema subtypes defined by quantitative CT analysis are associated with specific pulmonary matrix metalloproteinases. [PDF]

, 2016
BACKGROUND: Emphysema is characterised by distinct pathological sub-types, but little is known about the divergent underlying aetiology. Matrix-metalloproteinases (MMPs) are proteolytic enzymes that can degrade the extracellular matrix and have been ...
Bourne, S, Coombs, NA, Elkington, PT, Estepar, RS, Harden, S, Kim, V, Ostridge, K, Staples, KJ, Washko, G, Wilkinson, TM, Williams, N   +10 more
core   +1 more source

Novel Therapeutics for Chronic Obstructive Pulmonary Disease: From Empirical Bronchodilation to Precision Medicine

Respirology, EarlyView.
ABSTRACT Chronic obstructive pulmonary disease (COPD) remains the third leading cause of death worldwide, and conventional bronchodilator‐based therapies have limited efficacy in preventing exacerbations and disease progression. The 2024–2026 period represents a historic inflection point: three mechanistically distinct agents received Food and Drug ...
Naoya Fujino, Hisatoshi Sugiura
wiley   +1 more source

Alpha 1 antitrypsin to treat lung disease in alpha 1 antitrypsin deficiency: recent developments and clinical implications

International Journal of COPD, 2018
Kenneth R Chapman,1 Joanna Chorostowska-Wynimko,2 A Rembert Koczulla,3 Ilaria Ferrarotti,4 Noel G McElvaney5 1Department of Medicine, University of Toronto, Toronto, ON, Canada; 2Department of Genetics and Clinical Immunology, National Institute of ...
Chapman KR, Chorostowska-Wynimko J, Koczulla AR, Ferrarotti I, McElvaney NG   +4 more
doaj  

Liver replacement for alpha1-antitrypsin deficiency [PDF]

, 1977
A 16-year-old girl with advanced cirrhosis and severe alpha1-antitrypsin deficiency of the homozygous PiZZ phenotype was treated by orthotopic liver transplantation.
Ashcavai, M, Peters, RL, Porter, KA, Putnam, CW, Redeker, AG, Starzl, TE   +5 more
core  

The Alpha‐1 Pi*MZ Genotype Is an Independent Risk Factor for Hepatocellular Carcinoma Development in Patients With ACLD

Alimentary Pharmacology &Therapeutics, EarlyView.
Alpha‐1 antitrypsin deficiency is a genetic disease that affects the lungs and the liver. The role of the heterozygous genetic defect in the development of liver cancer in patients with cirrhosis is unclear. Our study found that carrying the Pi*MZ genotype increases the risk of developing liver cancer.
Lorenz Balcar, Georg Semmler, Bernhard Scheiner, Rafael Paternostro, Benedikt Simbrunner, Tina Jasmin Haunold, Mathias Jachs, Lukas Hartl, Benedikt Silvester Hofer, Nina Dominik, Michael Schwarz, Georg Kramer, Christian Sebesta, Paul Thöne, Matthias Pinter, Michael Trauner, Thomas Reiberger, Albert Friedrich Stättermayer, Mattias Mandorfer   +18 more
wiley   +1 more source

Portuguese consensus document for the management of alpha-1-antitrypsin deficiency

Pulmonology, 2018
Alpha-1-antitrypsin deficiency (AATD) is a genetic autosomal codominant disorder caused by mutations in SERPINA1 gene. It is one of the most prevalent genetic disorders, although it remains underdiagnosed. Whereas at international level there are several
A.P. Lopes, M.A. Mineiro, F. Costa, J. Gomes, C. Santos, C. Antunes, D. Maia, R. Melo, M. Canotilho, E. Magalhães, I. Vicente, C. Valente, B.G. Gonçalves, B. Conde, C. Guimarães, C. Sousa, J. Amado, M.E. Brandão, M. Sucena, M.J. Oliveira, S. Seixas, V. Teixeira, L. Telo   +22 more
doaj   +1 more source