Results 71 to 80 of about 48,814 (291)

INBORN ERRORS OF METABOLISM

Nutrition Reviews, 2009
Abstract Understanding metabolic disease can be difficult in its own right. Under stressful situations such as those involving a sick infant, it becomes much more difficult. This resource is a talk whose purpose is to provide a simple framework with which to expeditiously diagnose a sick child who has a metabolic disorder.
openaire   +5 more sources

An Allele of Glutamate Formiminotransferase Triggers 5‐Methyl‐Tetrahydrofolate‐to‐MeFox Conversion and Facilitates Folate Biofortification in Maize

Advanced Science, EarlyView.
This work demonstrates the distinct roles of the glutamate formiminotransferase (GFT) enzyme in plants. The GFT triggers the conversion of 5‐methyl‐tetrahydrofolate to MeFox in plants, a process distinct from its role as a formiminotransferase in mammals.
Tong Lian, Wenzhu Guo, Yanjing Wang, Weiwei Wen, Weixuan Wang, Ling Jiang, Qiuju Liang, Ji'an Liu, Haijun Liu, Yuan Xue, Lixu Pan, Qiaoquan Liu, Ping Yin, Delin Zhang, Jianbing Yan, Chunyi Zhang   +15 more
wiley   +1 more source

Phenylalanine and Tyrosine Metabolism Analysis in Heterozygotes for Phenylketonuria and in Healthy Individuals

Journal of Inborn Errors of Metabolism and Screening, 2015
Phenylketonuria (PKU) is an inherited metabolic disorder derived from a deficiency in the enzyme phenylalanine hydroxylase, which converts the amino acid phenylalanine (Phe) into tyrosine (Tyr).
Roseani Andrade MSc, Vaneisse Monteiro MSc, Cléber Cruz MSc, Carla Silva BS, Adriana Bastos MSc, Luiz Silva PhD   +5 more
doaj   +1 more source

Treatment of inborn errors of metabolism [PDF]

Molecular Cytogenetics, 2014
Inborn errors of metabolism (IEM), though individually rare are collectively common. Average incidence of 50+ common IEMs is considered to be approx 1 in 1,000 live births. With annual birth rate of approximately 25 million babies in India, we can expect at least 25,000 babies being born with IEM in India and hence it is a significant burden to the ...
openaire   +3 more sources

Integrated ‘Shield‐Spear’ Biological Patch for Fibrosis‐Free Bladder Reconstruction

Advanced Science, EarlyView.
Fibrosis‐free bladder reconstruction remains challenging. This study pioneers an integrated “shield‐spear” patch: The outer anionic hydrogel layer captures GATA6+ macrophages to suppress collagen overexpression, while the inner S100 aptamer‐engineered EVs target Schwann cells to downregulate the TGFβ/Smad pathway—inhibiting fibrosis with enhanced wound
Xiaoqi Wu, Huitong Ruan, Xiaolin Zhang, Weihan Zheng, Muhetaierjiang Mutailifu, Ling Wang, Liu Yu, Ruijun Peng, Rui Zhao, Zihan Wang, Jie Xu, Shaochuan Li, Yaobin Wu, Wenguo Cui, Mujun Lu   +14 more
wiley   +1 more source

Fatal pitfalls in newborn screening for mitochondrial trifunctional protein (MTP)/long-chain 3-Hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency

Orphanet Journal of Rare Diseases, 2018
Background Mitochondrial trifunctional protein (MTP) and long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency are long-chain fatty acid oxidation disorders with particularly high morbidity and mortality.
Amelie S. Lotz-Havla, Wulf Röschinger, Katharina Schiergens, Katharina Singer, Daniela Karall, Vassiliki Konstantopoulou, Saskia B. Wortmann, Esther M. Maier   +7 more
doaj   +1 more source

AGAPIR: A Novel PIWI‐Interacting RNA Enhancing Post‐Decompression Angiogenesis in Degenerative Cervical Myelopathy

Advanced Science, EarlyView.
The restoration of blood flow following surgical decompression for degenerative cervical myelopathy (DCM) significantly contributes to the amelioration of neurological deficits. This study identifies AGAPIR, an angiogenesis‐associated PIWI‐interacting RNA, enhances angiogenesis and motor function recovery post‐spinal cord decompression in a mouse model
Yongheng Xie, Yiling Peng, Tianyu Qin, Cuimei Chen, Zhenxiao Ren, Naibo Feng, Chungeng Liu, Songlin Peng, Houqing Long   +8 more
wiley   +1 more source

PCSK9 Loss‐of‐Function Disrupts Cellular Microfilament Network via LIN28A/HES5/JMY Axis in Neural Tube Defects

Advanced Science, EarlyView.
PCSK9 acts as a molecular chaperone promoting LIN28A lysosomal degradation. LIN28A elevates transcription factor HES5, increasing JMY expression. PCSK9 loss causes neural tube defects (NTDs) by disrupting the LIN28A/HES5/JMY axis, and high JMY disorganizes the neural progenitor cell microfilament network, leading to incomplete neural tube structure in ...
Xiaoshuai Li, Rui Wang, Wenting Luo, Hui Gu, Tianchu Huang, Qiushi Wang, Zhengwei Yuan   +6 more
wiley   +1 more source

Global serum glycoform profiling for the investigation of dystroglycanopathies & Congenital Disorders of Glycosylation

Molecular Genetics and Metabolism Reports, 2016
The Congenital Disorders of Glycosylation (CDG) are an expanding group of genetic disorders which encompass a spectrum of glycosylation defects of protein and lipids, including N- & O-linked defects and among the latter are the muscular ...
Wendy E. Heywood, Emily Bliss, Philippa Mills, Jale Yuzugulen, Gabriela Carreno, Peter T. Clayton, Francesco Muntoni, Viki C. Worthington, Silvia Torelli, Neil J. Sebire, Kevin Mills, Stephanie Grunewald   +11 more
doaj   +1 more source

The Mitochondrial Protein RESISTANCE to APHIDS 9 Interacts with S40 to Resist Aphid Infestation by Modulating Reactive Oxygen Species Homeostasis in Maize (Zea mays)

Advanced Science, EarlyView.
This study identifies the mitochondrial protein RTA9, a member of the Domain of Unknown Function 641 family, together with its partner S40, as key regulators of aphid resistance in maize. RTA9 promotes S40 degradation and modulates reactive oxygen species accumulation.
Chuanhong Wang, Xinqiao Zhang, Zhen Tao, Lei Wang, Shijie Huang, Tengyue Wang, Yibing Zhao, Jinghui Dong, Jing Ma, Chang Chang, Xingzhi Chen, Ning Lin, Peijin Li   +12 more
wiley   +1 more source