Results 91 to 100 of about 38,743 (241)

Rare red cell enzymopathies in the Indian population: A comprehensive review

Pediatric Hematology Oncology Journal
Red blood cell enzyme deficiencies are a rare category of hemolytic anaemia that typically present in children with varying degrees of hemolysis, indirect hyperbilirubinemia and splenomegaly.
Prabhakar Kedar, Rashmi Dongerdiye, Ritika Khurana, Sangeeta Mudaliar   +3 more
doaj   +1 more source

Interaction of the Gut Microbiota and the Enteric Nervous System: Implications in Gastrointestinal Disorders Associated With Autism Spectrum Disorder

Autism Research, EarlyView.
ABSTRACT Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by impairments in social interaction, restricted interests, and repetitive behaviors. In addition to these core behavioral symptoms, gastrointestinal (GI) disorders are frequently reported, ranging from severe constipation to diarrhea.
Baptiste Ganachaud, María José Mendoza‐León, Justine Marchix, Alonso Fernandez Tello, Catherine Le Berre Scoul, Ma Cecilia Opazo, Michel Neunlist, Claudia A. Riedel, Martial Caillaud, Hélène Boudin   +9 more
wiley   +1 more source

High Resolution Crystal Structure of the Pyruvate Kinase Tetramer in Complex with the Allosteric Activator Mitapivat/AG-348

Crystals
Pyruvate kinase (PK) deficiency is a rare genetic disorder that affects this critical enzyme within the glycolysis pathway. In recent years, Mitapivat (MTPV, AG-348) has emerged as a notable allosteric activator for treating PK deficiency.
Xiao Han, Tatyana Sandalova, Cheng Zhang, Adil Mardinoglu, Adnane Achour, Renhua Sun   +5 more
doaj   +1 more source

Metabolic Flux Analysis Reveals Cell Line‐Specific Rewiring in CHO Cells Following TCA Cycle Intermediate Feeding for Bioprocess pH Control

Biotechnology and Bioengineering, EarlyView.
ABSTRACT Chinese hamster ovary (CHO) cells are the leading host for recombinant therapeutic protein production in the biopharma industry. In this study, we investigated how feeding acidic forms of tricarboxylic acid (TCA) cycle intermediates—malic acid, succinic acid, and α‐ketoglutaric acid—affects cell culture performance and metabolism in two ...
Sarah A. Sacco, Kevin J. Ruiz‐Márquez, Rachel Moen, Irina Trenary, Xiaolin Zhang, Xiaowen Wang, Malik Padellan, Henry Lin, Jamey D. Young   +8 more
wiley   +1 more source

Expanding the PKLR mutation spectrum: discovery of two novel variants in two pediatric cases of pyruvate kinase deficiency

Annals of Hematology
Diagnosing neonatal pyruvate kinase (PK) deficiency is challenging, especially when early transfusions render conventional testing inconclusive. Genetic testing, however, is not influenced by transfusions and can provide, in most cases, a definitive ...
Oliver Sakalian, Yoann Huguenin, Serge Pissard, Vanessa Augis, Laurent Weinmann, Valérie Fuster, Marie Lagarde, Elise Badour, Nathalie Aladjidi, Julian Boutin, Stéphanie Dulucq   +10 more
doaj   +1 more source

First National Expanded Genomic Newborn Screening Program in Qatar; A Pilot Study, Doha‐Heidelberg Collaboration

American Journal of Medical Genetics Part A, EarlyView.
Reem Alsulaiman, Sarah Okashah, Radja Messai Badji, Fatemeh Abbaszadeh, Yaser Alsarraj, Rehab Ali Abdulrahman, Noora Shahbeck, Thalib Moideen, Reema El Hassan, Fatima Al‐Hamaydeh, Einas Alkuwari, Said Ismail, Hilal Al‐ Rifai, Ghassan Abdoh, Christian P. Schaaf, Georg Hoffmann, Saad Al‐Kaabi, Wadha Al‐Muftah, Tawfeg Ben‐Omran   +18 more
wiley   +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

Ovarian tissue cryopreservation for a girl with combined severe hemolytic anemia due to pyruvate kinase deficiency: a case report and literature review

Gynecological Endocrinology
Objective To present a young girl with pyruvate kinase deficiency (PKD) and concurrent severe hemolytic anemia who underwent fertility preservation and cryopreservation. Clinical symptoms, diagnosis, treatment, and new strategies for fertility protection
Lingling Jiang, Xiangyan Ruan, Juan Du, Jiaojiao Cheng, Yanglu Li, Muqing Gu, Yanqiu Li, Fengyu Jin, Jinshan Zhang, Jianji Xu, Alfred O. Mueck   +10 more
doaj   +1 more source

Harnessing ferroptosis from multilayer defense networks to nanoplatforms for specific cancer therapy

BMEMat, EarlyView.
Nanomaterials target metabolically‐regulated ferroptosis for cancer therapy. Iron‐based or alternative nanoplatforms integrate ferroptosis with chemotherapy, immunotherapy, or radiotherapy. They enable stimulus‐responsive therapies (photothermal, photodynamic, sonodynamic) activated by near‐infrared, light, or ultrasound, achieving potent synergistic ...
Xinyue Xu, Xuejian Wang, Wenyan Jiang, Wan Hairul Anuar Kamaruddin, Chunyan Fang, Pengfei Zhang   +5 more
wiley   +1 more source

Enhanced strategies for cuproptosis‐like death in bacterial infection treatment

BMEMat, EarlyView.
This review summarizes and examines the molecular mechanisms underlying cuproptosis‐like death. Furthermore, multi‐strategy efficacy enhancement and potential enhancement approaches are analyzed. Abstract Copper, a classical antibacterial metal, has long been of interest and widely used in medical and public health applications.
Wenqi Wang, Bolong Xu, Ruiyuan Zhu, Hengshuo Gui, Tian Xia, Shaokai Liu, Huiyu Liu, Xianwen Wang   +7 more
wiley   +1 more source