Results 61 to 70 of about 410,523 (291)

Liver organoids reproduce alpha-1 antitrypsin deficiency-related liver disease

Hepatology International, 2019
Background and aims Alpha-1 antitrypsin (AAT) is a product of SERPINA1 gene mainly expressed by hepatocytes. Clinically relevant mutations in the SERPINA1 gene, such as Z (Glu342Lys), results in an expression of misfolded AAT protein having high ...
G. Gomez-Mariano, N. Matamala, Selene Martínez, I. Justo, A. Marcacuzco, Carlos Jiménez, S. Monzón, I. Cuesta, C. Garfia, M. T. Martínez, Meritxell Huch, I. Pérez de Castro, M. Posada, S. Janciauskiene, B. Martínez-Delgado   +14 more
semanticscholar   +1 more source

4D Mapping of ZIF Biocomposites for High Protein Loading and Tunable Release Profiles

Advanced Functional Materials, EarlyView.
Systematic four‐dimensional mapping of zeolitic imidazolate framework biocomposites reveals how precursor ratios, total concentration, and washing define crystalline phase, protein loading, and release kinetics. This comprehensive study identifies conditions yielding record loading (∼85%) and precise phase–property correlations.
Michael R. Hafner, Francesco Carraro, Behnaz Abbasgholi‐NA, Simone Dal Zilio, Max Schmallegger, Helmar Wiltsche, Lingcong Ge, Michael R. Reithofer, Efwita Astria, Laura Villanova, Heinz Amenitsch, Christian Doonan, Paolo Falcaro   +12 more
wiley   +1 more source

Perbedaan Kadar Alpha 1 Antitrypsin Feses Berdasarkan Tingkat Keparahan Diare Akut pada Anak

Sari Pediatri, 2018
Latar belakang. Diare dapat menyebabkan kekurangan gizi, gangguan pertumbuhan dan gangguan kognitif. Gangguan gizi dapat terjadi karena asupan makanan yang kurang, atau kehilangan langsung karena kerusakan mukosa usus.
Fitriyana Fitriyana, Yusri Dianne Jurnalis, Eti Yerizel   +2 more
doaj   +1 more source

Potent Liver‐Tropic mRNA Lipid Nanoparticles: ApoE‐Mediated Delivery Through a Low‐Density Lipoprotein Receptor Independent Uptake Mechanism

Advanced Materials, EarlyView.
Helper and ionizable lipids play a crucial role in determining ApoE binding and subsequent liver tropism and LDLR‐mediated uptake. Ionizable lipids primarily govern the LDLR‐independent uptake pathway. This complementary interplay between lipid components ultimately governs LNP delivery performance and therapeutic efficacy in the liver.
Ashish Sarode, Christian Ortiz, Tadeh Derstepanian, Natalia Vargas‐Montoya, Priyal Patel, Nikita Khadse, Saikat Manna, Ryan Landis, Joseph Skaleski, Lianne Boeglin, Hongfeng Deng, Anusha Dias, Hong Wang, Debora Barreiros Petropolis, Barak Yahalom, Shrirang Karve, Frank DeRosa   +16 more
wiley   +1 more source

Future Perspectives in the Diagnosis and Treatment of Liver Disease Associated with Alpha-1 Antitrypsin Deficiency

GE: Portuguese Journal of Gastroenterology, 2023
Alpha-1 antitrypsin deficiency (AATD) is one of the most common genetic diseases and is caused by mutations in the SERPINA1 gene. The homozygous Pi*Z variant is responsible for the majority of the classic severe form of alpha-1 antitrypsin deficiency ...
Nélia Abreu, Vítor Magno Pereira, Madalena Pestana, Luís Jasmins   +3 more
doaj   +1 more source

A Protein‐Centric Strategy Coupled with Match‐Between‐Run Glycoproteomics Enables Discovery of Robust Site‐Specific Glycan Biomarkers for Hepatocellular Carcinoma

Advanced Science, EarlyView.
In this study, a highly robust N‐glycoproteomics (HRN) platform with a newly developed match‐between‐run scheme is used for biomarker discovery. This study proposes a protein‐centric strategy to prioritize proteins susceptible to aberrant glycosylation.
Lei Liu, Taiheng Ma, Qi Liu, He Zhu, Zheng Fang, Jiahong Ma, Ting Yu, Yan Wang, Jiahua Zhou, Xiaoyan Liu, Yaqian Li, Zhimou Guo, Xinmiao Liang, Mingming Dong, Deguang Sun, Mingliang Ye   +15 more
wiley   +1 more source

Evolution of Prime Editing: Enhancing Efficiency and Expanding Capacity

Advanced Science, EarlyView.
Most rare diseases are caused by genetic mutations. Prime editing (PE) has emerged as a versatile tool capable of inducing diverse mutations without generating DNA double‐strand breaks. Despite its significant clinical potential, PE faces limitations in terms of efficiency and scalability.
Jihyeon Yu, Ju‐Chan Park, Heesoo Uhm, Yong‐Woo Kim, Hyeon Woo Im, Sangsu Bae   +5 more
wiley   +1 more source

Severe bilateral descemetoceles in Alpha-1 antitrypsin deficiency. [PDF]

, 2019
PurposeTo report a case of severe bilateral descemetoceles in a patient with alpha-1 antitrypsin (A1AT) deficiency during intensive care unit hospitalization.ObservationsA 42-year-old male presented with sub-acute bilateral vision loss during an ...
Baqai, Jeanine, Ma, Jeffrey
core   +1 more source

Exercise‐specific plasma proteomic signatures in racehorses: Candidates for training adaptation and peak load monitoring

Equine Veterinary Journal, EarlyView.
Abstract Background Racehorses undergo profound physiological changes with training and competition, but current biomarkers inadequately capture the complex molecular dynamics of exercise. This study aimed to identify novel plasma biomarkers of training adaptation and peak load using high‐throughput proteomics.
Jowita Grzędzicka, Bianka Świderska, Ewa Sitkiewicz, Izabela Dąbrowska, Olga Witkowska‐Piłaszewicz   +4 more
wiley   +1 more source

An analog of glibenclamide selectively enhances autophagic degradation of misfolded α1-antitrypsin Z [PDF]

, 2019
The classical form of α1-antitrypsin deficiency (ATD) is characterized by intracellular accumulation of the misfolded variant α1-antitrypsin Z (ATZ) and severe liver disease in some of the affected individuals.
Andrew S. Chu (6256490), David H. Perlmutter (154778), Gary A. Silverman (154780), Ivet Bahar (22505), Jie Li (15030), Michael Ewing (518331), Murat C. Cobanoglu (6256487), Pamela Hale (518329), Radhika Muzumdar (6256496), Stephen C. Pak (154777), Tunda Hidvegi (518328), Yan Wang (15435), Zhenwei Gong (6256493)   +12 more
core   +3 more sources