Results 21 to 30 of about 10,064 (198)

Analysis of Catecholamines and Pterins in Inborn Errors of Monoamine Neurotransmitter Metabolism—From Past to Future

Cells, 2019
Inborn errors of monoamine neurotransmitter biosynthesis and degradation belong to the rare inborn errors of metabolism. They are caused by monogenic variants in the genes encoding the proteins involved in (1) neurotransmitter biosynthesis (like tyrosine
Sabine Jung-Klawitter, Oya Kuseyri Hübschmann   +1 more
doaj   +1 more source

Detection of other inborn errors of metabolism in hyperphenylalaninemic babies picked up on narrow-spectrum screening programs

The Turkish Journal of Pediatrics, 2012
In many countries, neonatal screening programs have been unable to expand and have been limited to a few diseases. We highlight herein the opportunity available for the early detection of some inborn errors of metabolism (IEMs) in those countries ...
Ozlem Unal, Burcu Oztürk-Hişmi, Turgay Coşkun, Ayşegül Tokatlı, Ali Dursun, Hatice Serap Sivri   +5 more
doaj   +1 more source

Quantitative amino acid analysis by liquid chromatography‐tandem mass spectrometry using low cost derivatization and an automated liquid handler

JIMD Reports, 2020
Amino acid analysis is central to newborn screening and the investigation of inborn errors of metabolism. Ion‐exchange chromatography with ninhydrin derivatization remains the reference method for quantitative amino acid analysis but offers slow ...
William S. Phipps, Eric Crossley, Richard Boriack, Patricia M. Jones, Khushbu Patel   +4 more
doaj   +1 more source

Integrative Omics Analysis Reveals the Regulation of Hypoxia Tolerance in Large Yellow Croaker (Larimichthys crocea) via the Lipoic Acid Synthase (lias) Gene

Advanced Science, EarlyView.
Lipoic acid synthase (lias) can regulate α‐KG levels through lipoylation, thereby negatively regulating HIF‐1α protein levels via PHD under hypoixa. The Hap2 allele of lias exhibits lower expression levels than Hap1, leading to the accumulation of more HIF‐1α protein and thereby enhancing hypoxia tolerance. ABSTRACT Hypoxia stress seriously affects the
Jie Ding, Songpeng Jia, Ran Meng, Xuelei Wang, Xiongfei Wu, Weiliang Shen, Yibo Zhang, Junquan Zhu   +7 more
wiley   +1 more source

Harnessing Large‐Scale Multi‐Omics Data for Risk Prediction and Deep Phenotyping of Valvular Heart Diseases in the General Population

Advanced Science, EarlyView.
Large‐scale UK Biobank analyses identify clinical and proteomic signatures for early prediction of valvular heart disease and its subtypes. Proteins add predictive value for VHD, AVS, and MVR, with outcome‐specific compact panels showing translational potential. Multi‐layer evidence highlights matrix remodeling, protease regulation, immune inflammation,
Zhihao Jiang, Yang Liu, Mingyu Song, Ning Chen, Canqing Yu, Jun Lv, Eric Yuk Fai Wan, Lu Qi, Liming Li, Dianjianyi Sun, Bang Zheng   +10 more
wiley   +1 more source

Machine Learning‐Driven Design of Multicomponent Bone Inorganic Matrix Mimicking Scaffolds for Osteogenesis Enhanced by Neurogenesis

Advanced Science, EarlyView.
Schematic illustration of development of experimental datasets and algorithm models, screening and preparation of the scaffolds and their applications in vivo. ABSTRACT Bone defects require materials with osteogenic, neurogenic, and angiogenic activity, yet designing such materials within high‐dimensional compositional spaces remains challenging. Here,
Kunlu Lin, Ying Yang, Chuyao Zhou, Hanyue Mao, Zhiquan Zhang, Libangxi Liu, Xiaoying Yu, Haoming Liu, Long Liu, Xiaoyan Wang   +9 more
wiley   +1 more source

The BTB/POZ‐MATH Protein ZmBPM1 Interacts With Autophagy‐related Protein ZmATG6 and Modulates the NLR Protein Rp1‐D21‐Mediated Defense Response in Maize

Advanced Science, EarlyView.
The maize BTB/POZ‐MATH (BPM) protein ZmBPM1 interacts with autophagy‐related protein ZmATG6 to relocate the NLR protein Rp1‐D21 from the nucleo‐cytoplasmic compartment into autophagosome‐like puncta, leading to autophagy‐mediated turnover and suppressing the hypersensitive response.
Chang‐Xiao Tang, Tong‐Tong Liu, Qi‐Dong Ge, Xiao‐Ying Liu, Wanxiao Wang, Yang Sun, Yanfei Liu, Faqiang Li, Guan‐Feng Wang   +8 more
wiley   +1 more source

Amino Acid Metabolism in Liver Mitochondria: From Homeostasis to Disease

Metabolites
Hepatic mitochondria play critical roles in sustaining systemic nutrient balance, nitrogen detoxification, and cellular bioenergetics. These functions depend on tightly regulated mitochondrial processes, including amino acid catabolism, ammonia clearance
Ranya Erdal, Kıvanç Birsoy, Gokhan Unlu   +2 more
doaj   +1 more source

Diagnostic pitfalls in neonatal hypertyrosinemia: a case report

Life Sciences, Medicine and Biomedicine, 2023
Hypertyrosinemia results from abnormality in tyrosine metabolism. Acquired hypertyrosinemia is notably more common than inherited types and typically presents with profile suggestive of secondary aetiology on biochemical testing.
Karniza Khalid, Mohd Fazrul Shafiq Kamarudzaman, Siti Nurwani Ahmad Ridzuan, Nurul Izzati Hamzan, Norzahidah Khalid, Noor Hafizah Hassan   +5 more
doaj   +1 more source

Engineering CAR‐Macrophages With Advanced Delivery Systems for Tissue Repair

Advanced Science, EarlyView.
This review highlights how engineered macrophages equipped with chimeric antigen receptors (CAR) guide tissue repair by recognizing disease‐related targets, clearing harmful cells, and reshaping local immune environments. It summarizes macrophage biology, CAR design, delivery platforms, and functionalization strategies, and discusses emerging ...
Yixin Zhang, Jintian Yu, Liang Yuan, Ziliang Fu, Yiming Yao, Lingna Chen, Shixiong Chen, Aikemu Ainiwaer, Xiaolin Cui   +8 more
wiley   +1 more source