Results 101 to 110 of about 12,033 (186)

Unraveling Lysosomal Exocytosis: From Molecular Mechanisms to Physiological Functions

Traffic, Volume 27, Issue 1, March 2026.
Lysosomal exocytosis is propelled by specific molecular mechanisms that direct its microtubule‐dependent transport and subsequent fusion with the plasma membrane. This process fulfills essential physiological functions such as plasma membrane repair, maintenance of cellular homeostasis, and participation in signal transduction.
Shanshan Jiang, Jingyi Fu, Shan Li, Zehui Li, Qirui Zhao, Yuqi Yin, Mei Yang, Yonghua Wang   +7 more
wiley   +1 more source

Tracing genetic diversity captures the molecular basis of misfolding disease

Nature Communications
Genetic variation in human populations can result in the misfolding and aggregation of proteins, giving rise to systemic and neurodegenerative diseases that require management by proteostasis.
Pei Zhao, Chao Wang, Shuhong Sun, Xi Wang, William E. Balch   +4 more
doaj   +1 more source

The impact of alpha-1 antitrypsin augmentation therapy on neutrophil-driven respiratory disease in deficient individuals

Journal of Inflammation Research, 2018
Danielle M Dunlea, Laura T Fee, Thomas McEnery, Noel G McElvaney, Emer P Reeves Irish Centre for Genetic Lung Disease, Department of Medicine, Royal College of Surgeons in Ireland, Beaumont Hospital, Dublin, Ireland Abstract: Alpha-1 antitrypsin (AAT) is
Dunlea DM, Fee LT, McEnery T, McElvaney NG, Reeves EP   +4 more
doaj  

Alpha-1 antitrypsin deficiency and cardiovascular disease: a review. [PDF]

Respir Res
David SV, Nordestgaard BG, Dahl M.
europepmc   +1 more source

The Epidemiology of Alpha-1 Antitrypsin Deficiency in Norway. [PDF]

Clin Epidemiol
Ghanima W, Vágó EK, Acquavella J, Horváth-Puhó E.   +3 more
europepmc   +1 more source

RNA editing for the treatment of alpha-1 antitrypsin deficiency. [PDF]

Nucleic Acids Res
Monian P, Shivalila C, Lu G, Bowman K, Briem S, Bylsma M, Byrne M, Cannon M, Chatterjee A, Dallaire M, Desai J, Dufresne J, Faraone A, Favaloro F, Friend S, Ghosh A, Godfrey J, Hernandez N, Huth O, Iwamoto N, Kawamoto T, Lamattina A, Lemaitre M, Lindsey A, Liu F, Looby R, Luu K, McGlynn A, Metterville J, Paik IH, Pan Q, Patil S, Pu T, Purcell-Estabrook E, Ranade A, Rheinhardt J, Rossi J, Shimizu M, Singh K, Standley S, Thomas C, Tripathi S, Yang H, Yordanoff R, Yin Y, Yu H, Narayanan P, Kandasamy P, Giangrande PH, Vargeese C.   +49 more
europepmc   +1 more source

Functional and clinical significance of novel SERPINA1 variants on alpha-1 antitrypsin deficiency. [PDF]

Respir Res
Matamala N, Osaba L, Drobnic E, Gil-Martín S, Martín-Galiano AJ, Almadana-Pacheco V, Cazorla MJ, Costa F, Souza-Sokoloski C, Çörtük M, Serra-Fortuny M, Ortiz-de Saracho J, Lloret-Queraltó JA, Rodriguez-Lázaro N, Michel-de la Rosa FJ, Rodríguez-Hermosa JL, Saldaña-Pérez L, Akıncı E, Alonso J, Benítez-Buelga C, Gómez-Mariano G, López-Campos JL, Martínez-Delgado B.   +22 more
europepmc   +1 more source

Quantitative analysis of chest computed tomography in alpha-1-antitrypsin deficiency. [PDF]

Respir Res
Höger P, Benholz J, Weinheimer O, Wielpütz MO, Heußel CP, Bischoff A, Eberhardt R, Buschulte K, Fähndrich S, Michels-Zetsche JD, Ersöz H, Rivera AO, Herth F, Trudzinski FC.   +13 more
europepmc   +1 more source

Advances in orphan drug development for alpha-1 antitrypsin deficiency: a 2025 update from the FDA and EMA. [PDF]

Ther Adv Respir Dis
Höger P, Ries M, Olivares Rivera A, Ersöz H, Buschulte K, Fähndrich S, Kontogianni K, Herth F, Trudzinski FC.   +8 more
europepmc   +1 more source

Increased Risk of Cholesteatoma in Individuals With Alpha-1 Antitrypsin Deficiency: A Cohort Study. [PDF]

Laryngoscope
Ali A, Ravn HA, Dahl M, Djurhuus BD.
europepmc   +1 more source