Results 61 to 70 of about 21,421 (302)

Metformin Restores Mitochondrial Function and Neurogenesis in POLG Patient‐Derived Brain Organoids

Advanced Science, EarlyView.
Patient‐derived POLG‐mutant cortical organoids reveal neuronal subtype‐specific mitochondrial and synaptic defects, with dopaminergic neurons most affected. Metformin treatment restores neuronal identity, mitochondrial function, and excitability, increased mtDNA maintenance, and reprogrammed metabolism via TCA and redox pathways.
Zhuoyuan Zhang, Tsering Yangzom, Ning Lu, Shenglong Deng, Xianglu Xiao, Guang Yang, Kristina Xiao Liang   +6 more
wiley   +1 more source

Hyperandrogenemia Induces Trophoblast Ferroptosis and Early Pregnancy Loss in Patients With PCOS via CMA‐Dependent FTH1 Degradation

Advanced Science, EarlyView.
In PCOS patients with hyperandrogenemia, decreased ferritin heavy chain 1 (FTH1) causes Fe2⁺ overload and ferroptosis in trophoblasts. Androgens induce FTH1 protein degradation via AR‐LAMP2A‐mediated chaperone‐mediated autophagy pathway, leading to placental development disruption and early pregnancy loss. Metformin mitigates androgen‐induced placental
Hanjing Zhou, Weijie Yang, Na Liu, Qing Liu, Jiamin Jin, Chenqiong Zhao, Xiaoying Jin, Miao Gui, Haiyan Zhu, Songying Zhang, Yinli Zhang   +10 more
wiley   +1 more source

Metabolic investigations prevent liver transplantation in two young children with citrullinemia type I [PDF]

, 2010
Acute liver failure may be caused by a variety of disorders including inborn errors of metabolism. In those cases, rapid metabolic investigations and adequate treatment may avoid the need for liver transplantation.
A Dhawan, Dirk-Jan Reijngoud, DP Dimmock, Edmond H. H. M. Rings, F Endo, Francjan J. van Spronsen, Frans W. Verheijen, JM Saudubray, L Fregonese, M Summar, Maaike M. C. de Vries, Marc Eling, Marcel Cuppen, Martijn J. de Groot, MR Narkewicz, P Durand, P Keskinen, PF Whitington, RH Squires, SA Zamora, SE Olpin, SW Brusilow, T Mori, WJ Kleijer   +23 more
core   +5 more sources

Infant mortality in Brazil attributable to inborn errors of metabolism associated with sudden death: a time-series study (2002–2014)

BMC Pediatrics, 2019
Background The literature suggests that 0.9 to 6% of infants who die unexpectedly may have had a metabolic disorder. At least 43 different inborn errors of metabolism (IEMs) have been associated with sudden death (SUDI).
F. H. de Bitencourt, I. V. D. Schwartz, F. S. L. Vianna   +2 more
doaj   +1 more source

Inborn Errors of Fructose Metabolism. What Can We Learn from Them? [PDF]

, 2017
Fructose is one of the main sweetening agents in the human diet and its ingestion is increasing globally. Dietary sugar has particular effects on those whose capacity to metabolize fructose is limited.
Tran, C.
core   +2 more sources

Fluorinated Carnitine Derivatives as Tools to Visualise Carnitine Transport and Metabolism

Advanced Science, EarlyView.
Fluorinated carnitines, fluoromethyl carnitine (FMC) and [18F]fluoromethyl carnitine ([18F]FMC), are synthesised and established as powerful probes to interrogate carnitine biology. The multimodal detection facilitated by fluorine labelling, including 19F NMR, mass spectrometry, and positron emission tomography imaging, allowed for visualisation of ...
Richard S. Edwards, Ella‐May Hards, Sofia N. dos Santos, Hannah E. Greenwood, Madeleine E. George, Andrea Emanuelli, Muhammet Tanc, Thomas R. Eykyn, Timothy H. Witney   +8 more
wiley   +1 more source

Diagnosis and therapeutic monitoring of inborn errors of metabolism in 100,077 newborns from Jining city in China

BMC Pediatrics, 2018
Background Mandatory newborn screening for metabolic disorders has not been implemented in most parts of China. Newborn mortality and morbidity could be markedly reduced by early diagnosis and treatment of inborn errors of metabolism (IEM).
Chi-Ju Yang, Na Wei, Ming Li, Kun Xie, Jian-Qiu Li, Cheng-Gang Huang, Yong-Sheng Xiao, Wen-Hua Liu, Xi-Gui Chen   +8 more
doaj   +1 more source

An OGT Missense Variant With Impaired Enzyme Activity in a Child With Severe Developmental Delay and Hepatoblastoma

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT O‐GlcNAc transferase (OGT) and its antagonist O‐GlcNAcase (OGA) regulate protein O‐GlcNAcylation, a highly conserved post‐translational modification involved in metabolic sensing. Pathogenic variants in the OGT gene cause an X‐linked congenital disorder of glycosylation (OGT‐CDG) presenting developmental delay, hypotonia, intellectual ...
Alfonso Manuel D'Alessio, Huijie Yuan, Leandro Raul Soria, Sara Basse Hansen, Iolanda Boffa, Paola Arena, Benedetta Attianese, Maureen. O'Sullivan, Noelle Cullinan, Lewis Pang, Daan Marinus Ferdinand van Aalten, Nicola Brunetti‐Pierri, Sally Ann Lynch   +12 more
wiley   +1 more source

Controversies in Parenteral Protein Intake in Preterm Infants

Children
As the limit of viability is extended to lower gestational ages, neonatologists caring for preterm infants must discover the optimal nutritional combination to support postnatal growth.
Ira Holla, Pradeep Alur
doaj   +1 more source

Evaluation of earlier versus later dietary management in long-chain 3-hydroxyacyl-CoA dehydrogenase or mitochondrial trifunctional protein deficiency::a systematic review [PDF]

, 2019
Background: Mitochondrial trifunctional protein (MTP) and long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiencies are rare fatty acid β-oxidation disorders. Without dietary management the conditions are life-threatening. We conducted a systematic
Clarke, Aileen, Connock, Martin, Fraser, Hannah, Geppert, Julia, Johnson, Rebecca, Johnson, Samantha, Stinton, Christopher, Taylor-Phillips, Sian   +7 more
core   +2 more sources