Results 21 to 30 of about 12,327 (151)

Detection of alpha-1 antitrypsin deficiency: the past, present and future

Orphanet Journal of Rare Diseases, 2020
Background Most patients with alpha-1 antitrypsin deficiency remain undiagnosed and therefore do not benefit from current therapies or become eligible for research studies of new treatments under development.
Mark Brantly, Michael Campos, Angela M. Davis, Jeanine D’Armiento, Kenneth Goodman, Kathi Hanna, Miriam O’Day, John Queenan, Robert Sandhaus, James Stoller, Charlie Strange, Jeffrey Teckman, Adam Wanner   +12 more
doaj   +1 more source

Postponed diagnosis of alpha-1 antitrypsin deficiency [PDF]

Srpski Arhiv za Celokupno Lekarstvo, 2016
nema
Stojković-Lalošević Milica, Stjepanović Mihailo, Čolović Nataša, Marić-Živković Jasmina, Mihailović-Vučinić Violeta, Stojković Mirjana   +5 more
doaj   +1 more source

Malectin Alleviates Endoplasmic Reticulum Stress in Gestational Diabetes Mellitus via Glycoprotein Quality Control Mechanisms

Advanced Science, EarlyView.
Malectin alleviates high glucose‐induced ER stress and damage in placental trophoblasts, a function dependent on its six critical carbohydrate‐binding residues. In a GDM mouse model, administration of TAT‐Malectin ameliorated hyperglycemia and placental ER stress and prevented fetal macrosomia.
Jiahui Zhu, Yumeng Zhang, Ye Wang, Xiaoyu Zhu, Ailin Yuan, Weijing Yin, Huangmin Yu, Xuemin Pang, Yufeng He, Yuchen Wang, Tong Wang, Yong Li, Yunlong Si   +12 more
wiley   +1 more source

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

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source

Rare variants in alpha 1 antitrypsin deficiency: a systematic literature review

Orphanet Journal of Rare Diseases
Background Alpha 1 Antitrypsin Deficiency (AATD) is a largely underrecognized genetic condition characterized by low Alpha 1 Antitrypsin (AAT) serum levels, resulting from variations in SERPINA1.
Ilaria Ferrarotti, Marion Wencker, Joanna Chorostowska-Wynimko   +2 more
doaj   +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

Glycoengineered Recombinant Alpha1‐Antitrypsin Results in Comparable In Vitro and In Vivo Activities to Human Plasma‐Derived Protein

Biotechnology and Bioengineering, EarlyView.
ABSTRACT Alpha‐1‐antitrypsin (A1AT) is a multifunctional, clinically important, high‐value therapeutic glycoprotein that can be used for the treatment of many diseases, such as A1AT deficiency, diabetes, graft‐versus‐host disease, cystic fibrosis, and various viral infections. Currently, the only U.S. food and drug administration‐approved treatment for
Frances Rocamora, Chen‐Lin Hsieh, Sanne Schoffelen, Johnny Arnsdorf, Eric A. Toth, Abdul S. Yunus, Thomas E. Cleveland IV, Sara Petersen Bjørn, Mina Ying Min Wu, Noel G. McElvaney, Bjørn Gunnar Rude Voldborg, Thomas R. Fuerst, Nathan E. Lewis   +12 more
wiley   +1 more source

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

Targeting neutrophil extracellular traps in metabolic and immune niche: Nanomaterials for diabetes tissue regeneration

BMEMat, EarlyView.
The effects of NETs on regeneration of various diabetic tissues, and strategies targeting NETs for diabetes tissue regeneration. In the diabetic environment, NETs undergo complex metabolic and immune reprogramming, leading to dynamic changes in antibacterial and proinflammatory functions, and affecting regeneration of multiple systemic tissues.
Xinyi Jiang, Muxin Yue, Kai Mao, Boon Chin Heng, Noor Azlin Yahya, Yunsong Liu, Zheng Li   +6 more
wiley   +1 more source