Results 51 to 60 of about 30,834,870 (206)

A rare case of alpha 1-antitrypsin deficiency associated with hypogammaglobulinemia and recurrent pulmonary thrombosis

Annals of Thoracic Medicine, 2014
Alpha 1-antitrypsin (AAT) belongs to the family of serpins (serine protease inhibitors). Loop sheet polymerization is the pathology behind serpinopathies which encompasses AAT, anti-thrombin III and neuroserpin deficiency.
Raghav Gupta, Srilekha Sridhara, John A Wood   +2 more
doaj   +1 more source

Engineering mRNA‐LNP Medicines for the Ageing Brain: Opportunities and Challenges for Neurodegenerative Diseases

Exploration, EarlyView.
This review highlights recent advances in engineering messenger RNA (mRNA)‐lipid nanoparticles (LNPs) to cross the ageing blood–brain barrier and target neurodegenerative diseases. It outlines design principles, delivery routes, and translational challenges, charting a roadmap towards clinical application of mRNA‐LNP therapeutics for neurodegenerative ...
Abdel Ali Belaidi, Denzil L. Furtado, Francesca Alves, Rebecca M. Nisbet, Scott Ayton, Ashley I. Bush   +5 more
wiley   +1 more source

The Relationship between Plasma Alpha-1-Antitrypsin Polymers and Lung or Liver Function in ZZ Alpha-1-Antitrypsin-Deficient Patients

Biomolecules, 2022
Alpha-1-Antitrypsin (AAT) is a protein of the SERPINA1 gene. A single amino acid mutation (Lys342Glu) results in an expression of misfolded Z-AAT protein, which has a high propensity to intra- and extra-cellular polymerization.
Annelot D. Sark, Malin Fromme, Beata Olejnicka, Tobias Welte, Pavel Strnad, Sabina Janciauskiene, Jan Stolk   +6 more
doaj   +1 more source

What Is Alpha-1 Antitrypsin (AAT) Deficiency? Fact Sheet [PDF]

, 2023
Basic facts about alpha-1 antitrypsin deficiency, managing your alpha-1 antitrypsin deficiency, how alpha-1 antitrypsin deficiency affects ...

core  

Structural characterization and conformational dynamics of alpha-1 antitrypsin pathogenic variants causing alpha-1-antitrypsin deficiency

Frontiers in Molecular Biosciences, 2022
Background: Alpha-1 antitrypsin deficiency (A1ATD) is a progressive lung disease caused by inherited pathogenic variants in the SERPINA1 gene. However, their actual role in maintenance of structural and functional characteristics of the corresponding α-1
Noor Ahmad Shaik, Noor Ahmad Shaik, Najla Bint Saud Al-Saud, Thamer Abdulhamid Aljuhani, Kaiser Jamil, Huda Alnuman, Deema Aljeaid, Nasreen Sultana, Ashraf AbdulRahman El-Harouni, Zuhier Ahmed Awan, Zuhier Ahmed Awan, Ramu Elango, Ramu Elango, Babajan Banaganapalli, Babajan Banaganapalli   +14 more
doaj   +1 more source

CHAPLE‐Like Enteropathy and Renal Microangiopathy in an Adult Patient With CD46 Deficiency

Journal of Clinical Laboratory Analysis, EarlyView.
We report an adult patient with a homozygous CD46 variant presenting with lifelong protein‐losing enteropathy, intestinal lymphangiectasia, and CVID‐like hypogammaglobulinemia mimicking CHAPLE syndrome. Concurrent renal biopsy revealed PLA2R‐negative membranous nephropathy with chronic thrombotic microangiopathy, establishing multi‐organ complement ...
Bircan Erden, Pelin Korkmaz, Halil Yazici, Ahmet Burak Dirim, Fatih Beşışık, Nevzat Kahveci, Zeynep Kilinc, Derya Unal, Osman Ozan Yegit, Tuğba Kalaycı, Özge Hürdoğan, Yasemin Özlük, Melek Büyük, Asli Gelincik, Semra Demir   +14 more
wiley   +1 more source

Transplant with MZ genotype liver: what is the clinical pulmonary picture after 30 years? a case report and review of the literature

Journal of Medical Case Reports, 2023
Background Alpha-1 antitrypsin, also known as alpha1 proteinase inhibitor, is a protein 90% synthesized by hepatocytes. Alpha-1 antitrypsin deficiency should be suspected if patients have unexplained emphysema or liver disease in the absence of others ...
Anna Annunziata, Alessandra Di Perna, Ilaria Ferrarotti, Antonietta Coppola, Maria Burricco, Giuseppe Fiorentino   +5 more
doaj   +1 more source

Impact of cystic fibrosis transmembrane conductance regulator modulator therapies on liver stiffness and liver enzymes: An observational perspective single‐center cohort study

JPGN Reports, EarlyView.
Abstract Objectives The efficacy of cystic fibrosis transmembrane conductance regulator (CFTR)‐modulator therapies in preventing or ameliorating cystic fibrosis liver disease (CFLD) by correcting CFTR in cholangiocytes is not well‐documented. This study aimed to assess liver function during CFTR‐modulators.
Laura Giugliano, Elisabetta Augustoni, Antonio Pizzol, Anna Opramolla, Cristina Chiadò, Anna Zagaria, Irene Esposito, Giulia Roberto, Alice Ponte, Andrea Evangelista, Paola Quarello, Michele Pinon, Pier Luigi Calvo   +12 more
wiley   +1 more source

Lung function in the general population : the complex interplay of variants in "Serpina1" and other genes with the environment [PDF]

, 2013
Background. One of the globally most frequent health problems are obstructive lung diseases such as asthma and chronic obstructive pulmonary disease.
Thun, Gian Andri
core   +1 more source

Difficulties in diagnosing and managing a patient with alpha-1-antitrypsin deficiency (clinical case)

Клинический разбор в общей медицине
Alpha-1-antitrypsin deficiency (A1ATD) is a rare hereditary disorder that most commonly manifests in adults by damage to the respiratory system. The disease prevalence varies across different populations and has not been fully established, while the ...
Oleg M. Uryasev, Lyudmila V. Korshunova, Kirill O. Slabachkov, Alexandra V. Solovieva, Maria A. Rodionova   +4 more
doaj   +1 more source