Results 41 to 50 of about 18,796 (222)

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

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

Tumor‐Derived Alpha‐1 Antitrypsin Promotes Liver Metastasis of Colorectal Cancer Through the Neutrophil Extracellular Traps–CCDC25 Pathway

Advanced Science, EarlyView.
ABSTRACT Liver metastasis is a leading cause of mortality in colorectal cancer (CRC), where the inflammatory tumor microenvironment, specifically neutrophil infiltration, significantly promotes metastatic colonization. This study reveals a pro‐metastatic role for alpha‐1 antitrypsin (A1AT) in CRC liver metastasis via a dual mechanism involving ...
Qian Fei, Chunning Li, Lei Zhan, Xiaoyan Li, Yan Hui, Yue Jin, Jing Zhang, Lu Yang, Xin Sun, Xiaoxi Li, Qian Dong, Jingdong Zhang   +11 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

Pregnancy and alpha-1 antitrypsin deficiency [PDF]

Postgraduate Medical Journal, 1987
Summary A 29 year old patient with alpha-1 antitrypsin deficiency and bullous emphysema became pregnant against the advice of her physicians. Despite a mid-trimester pneumothorax requiring the insertion of a chest tube, she went on to deliver a healthy child under epidural anaesthesia using a midforceps technique. Vaginal delivery is not
openaire   +2 more sources

Endoplasmic Reticulum Geometry Dictates Neuronal Bursting via Calcium Store Refill Rates and Exposes Selective Neuronal Vulnerability

Advanced Science, EarlyView.
The ER's continuous tubular network is maintained by ER‐shaping proteins whose mutation or dysregulation contributes to neurodegenerative diseases. Here, we show that ER morphology sets the speed of Ca2+ store replenishment between firing events. Disrupting ER continuity slows intra‐ER Ca2+ redistribution from extracellular refill (SOCE) sites, driving
Valentina Davi, Pierre Parutto, Yuyi Zhang, Tasuku Konno, Cecile Crapart, Raquel Pereira, John P. Franklin, Mosab Ali Awadelkareem, Daniel C Maddison, Michael J. Devine, Edgar R. Gomes, Joseph Chambers, Elena Koslover, Edward Avezov   +13 more
wiley   +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

SERPINA1 PiZ and PiS heterozygotes and lung function decline in the SAPALDIA cohort [PDF]

, 2012
BACKGROUND: Severe alpha1-antitrypsin (AAT) deficiency is a strong risk factor for COPD. But the impact of gene variants resulting in mild or intermediate AAT deficiency on the longitudinal course of respiratory health remains controversial.
Margaret Gerbase, Nicole M Probst-Hensch, Zorzetto Michele, Zorzetto, M., F. Kronenberg, P. Bridevaux, Ottaviani, S., LUISETTI, MAURIZIO, Zemp, E., N. M. Probst Hensch, Elisabeth Zemp (142900), Erich W Russi, Gian-Andri Thun (142891), Gerbase Margaret, Russi Erich W., Gian-Andri Thun, Thierry Rochat, E. Zemp, FERRAROTTI, ILARIA, Florian Kronenberg (87557), Maurizio Luisetti (142908), G. Thun, Nicole M. Probst-Hensch (110284), Michele Zorzetto (142902), Russi, E. W., Medea Imboden, Stefania Ottaviani, Ilaria Ferrarotti (142893), Pierre-Olivier Bridevaux, Kronenberg Florian, Florian Kronenberg, Ferrarotti, I., Bridevaux Pierre-Olivier, Luisetti Maurizio, S. Ottaviani, Erich W. Russi (142906), Ferrarotti Ilaria, Stefania Ottaviani (142904), Thun Gian-Andri, Michele Zorzetto, E. W. Russi, Gerbase, M., Bridevaux, P. O., Pierre-Olivier Bridevaux (142898), Rochat, T., T. Rochat, Thierry Rochat (110261), Thun, G. A., M. Gerbase, Ilaria Ferrarotti, Margaret Gerbase (142896), Elisabeth Zemp, Maurizio Luisetti, Imboden, M., Medea Imboden (110145), Imboden Medea, M. Zorzetto, Rochat Thierry, Kronenberg, F., Probst-Hensch, N. M., M. Imboden, Probst-Hensch Nicole M., Luisetti, M., Ottaviani Stefania, Zemp Elisabeth   +64 more
core   +1 more source

Supplementary appendix: Alpha-1 Antitrypsin Deficiency-Associated Panniculitis.

, 2021
Supplementary appendix to "Alpha-1 Antitrypsin Deficiency-Associated Panniculitis"
Franciosi, A (via Mendeley Data)
core   +1 more source