Results 51 to 60 of about 67,450 (309)

Should PNPO Deficiency Be Treated In Utero? Clinical Findings From Prenatal Pyridoxine Therapy [PDF]

JIMD Rep
ABSTRACT Pyridox(am)ine‐5′‐phosphate oxidase (PNPO) deficiency is characterized by early‐onset epileptic encephalopathy refractory to standard antiseizure medications. It is caused by variants in the PNPO gene, resulting in deficient PNPO enzyme activity, which normally converts pyridoxine‐5′‐phosphate and pyridoxamine‐5′‐phosphate (two vitamers of ...
de Puyraimond C, Pichard S, Girard M, Delanne J, Faivre L, Imbard A, Baurand A, Benoist J, Mills P, Clayton P, Schiff M.   +10 more
europepmc   +2 more sources

Nicotinamide and Pyridoxine Supplementation Enhances Muscle Stem Cell Activity and Muscle Regeneration in Humans: A Randomized Placebo‐Controlled Clinical Trial of High Force Eccentric Contraction Recovery in Healthy Young Men

Advanced Science, EarlyView.
In a randomized clinical trial, we test the potential of combined nicotinamide (NAM) and pyridoxine (PN) to improve muscle recovery through muscle stem cell (MuSC) activity. Daily oral NAM and PN supplementation after high intensity muscle contractions enhances MuSC activation and differentiation, and accelerates muscle regeneration, providing new ...
Grith Højfeldt, Joris Michaud, Ann Damgaard, Karoline Karlog, Eugenia Migliavacca, Sonia Karaz, Elham Pazirandeh‐Micol, Odd E. Johansen, Leonidas G. Karagounis, Bjørk W. Helge, William Hagemann, Michael Kjaer, Jerome N. Feige, Pascal Stuelsatz, Abigail L. Mackey   +14 more
wiley   +1 more source

The Effects of a Single Oral Dose of Pyridoxine on Alpha-Aminoadipic Semialdehyde, Piperideine-6-Carboxylate, Pipecolic Acid, and Alpha-Aminoadipic Acid Levels in Pyridoxine-Dependent Epilepsy

Frontiers in Pediatrics, 2019
Purpose: To evaluate the effects of a single oral dose of pyridoxine on lysine metabolites including α-aminoadipic semialdehyde (a-AASA), piperideine-6-carboxylate (P6C), the sum of AASA and P6C (AASA-P6C), pipecolic acid (PA), and α-aminoadipic acid (α ...
Junjuan Wang, Junjuan Wang, Jiao Xue, Pan Gong, Minhang Wu, Wenshuang Yang, Shiju Jiang, Ye Wu, Yuwu Jiang, Yuehua Zhang, Tatiana Yuzyuk, Tatiana Yuzyuk, Hong Li, Zhixian Yang   +13 more
doaj   +1 more source

Clinical and genetic features in pyridoxine‐dependent epilepsy: a Chinese cohort study

Developmental Medicine & Child Neurology, 2019
To characterize the clinical and genetic characteristics of a large cohort of patients with pyridoxine‐dependent epilepsy (PDE).
X. Jiao, J. Xue, P. Gong, Ye Wu, Yuehua Zhang, Yuwu Jiang, Zhixian Yang   +6 more
semanticscholar   +1 more source

Cars2‐Mediated Cysteine Catabolism Drives Brown Fat Development and Thermogenesis Through Persulfidating EBF2

Advanced Science, EarlyView.
We demonstrate that Cars2, a cysteine catabolic enzyme in mouse iBAT, is critical for cold tolerance and brown adipocyte differentiation. Through its CPERS activity, Cars2 produces CysSSH/H2S to induce EBF2 persulfidation, promoting its interaction with PPARγ and BRG1 to enhance thermogenic gene expression.
Xin Peng, Hongyong Song, Yin Long, Kaimin Wu, Yinkun Fu, Wenkai Zhou, Wenyan Li, Zhe Shi, Xu‐Yun Zhao   +8 more
wiley   +1 more source

Enzymatic Basis for the Oxidative Branch of Aromatic Amino Acid Fermentation Leading to p‐cresol Formation

Advanced Science, EarlyView.
In anaerobic bacteria, tyrosine serves as an electron donor in the oxidative Stickland fermentation branch, generating p‐hydroxyphenylacetate, ATP and reduced ferredoxin for decarboxylation into p‐cresol. ABSTRACT The phenolic metabolite p‐cresol is a byproduct of tyrosine fermentation by certain strictly anaerobic bacteria, including the human gut ...
Li Jiang, Yifeng Wei, Xumei Liu, Dazhi Liu, Zhenyu Liu, Yang Tong, Jinyu Yin, Ankanahalli N. Nanjaraj Urs, Meining Xing, Mark A. Harrison, Chuyuan Zhang, Sheng Yang, Yunzi Luo, Ee Lui Ang, Huimin Zhao, Yan Zhang   +15 more
wiley   +1 more source

Pyridoxine-Dependent Epilepsy in Zebrafish Caused by Aldh7a1 Deficiency

Genetics, 2017
Pyridoxine-dependent epilepsy (PDE) is a severe neonatal seizure disorder and is here modeled in aldh7a1 -/- zebrafish. Mutant larvae display spontaneous..
I. Pena, Yann Roussel, Kate Daniel, Kevin Mongeon, D. Johnstone, Hellen Weinschutz Mendes, M. Bosma, V. Saxena, N. Lepage, P. Chakraborty, D. Dyment, C. V. van Karnebeek, N. Verhoeven-Duif, T. Bui, K. Boycott, M. Ekker, A. MacKenzie   +16 more
semanticscholar   +1 more source

Insights into the Cardioprotective Effects of Pyridoxine Treatment in Diabetic Rats: A Study on Cardiac Oxidative Stress, Cardiometabolic Status, and Cardiovascular Biomarkers

Diagnostics
The aims of this study were to examine the effects of pyridoxine administration on the activities of cardiac antioxidant stress enzymes superoxide dismutase (SOD) and catalase (CAT) and enzyme indicators of cardiometabolic status, lactate and malate ...
Slavica Mutavdzin Krneta, Kristina Gopcevic, Sanja Stankovic, Jovana Jakovljevic Uzelac, Dušan Todorovic, Milica Labudovic Borovic, Jelena Rakocevic, Dragan Djuric   +7 more
doaj   +1 more source

Dietary interventions to contrast the onset and progression of diabetic nephropathy. a critical survey of new data [PDF]

, 2017
This article is a critical overview of recent contributions on the dietary corrections and the foods that have been claimed to delay or hinder the onset of diabetic nephropathy (DN) and its progression to end-stage renal disease.
Iacobini, Carla, Menini, Stefano, Pesce, Carlo, Pugliese, Giuseppe   +3 more
core   +1 more source

Pyridoxine 5′-phosphate oxidase is a novel therapeutic target and regulated by the TGF-β signalling pathway in epithelial ovarian cancer

Cell Death and Disease, 2017
Pyridoxine 5′-phosphate oxidase (PNPO) is an enzyme that converts pyridoxine 5′-phosphate into pyridoxal 5′-phosphate (PLP), an active form of vitamin B6 implicated in several types of cancer.
Lingyun Zhang, Daibing Zhou, Wencai Guan, Weimin Ren, Wenwen Sun, Ji-min Shi, Qunbo Lin, Jinguo Zhang, T. Qiao, Yulong Ye, Yun Wu, Yaning Zhang, Xulei Zuo, K. Connor, Guoxiong Xu   +14 more
semanticscholar   +1 more source