Results 71 to 80 of about 3,547 (200)

A new branch of mammalian vitamin B6 metabolism: AKR1C‐mediated conversion of pyridoxal to pyridoxine and 4‐pyridoxolactone

The FEBS Journal, EarlyView.
Pyridoxal 5′‐phosphate (PLP) homeostasis relies on salvage enzymes, yet key metabolic branches remain undefined. We identify AKR1C isozymes as previously undescribed contributors that convert pyridoxal into pyridoxine or 4‐pyridoxolactone through reductase and dehydrogenase activities.
Nayu Kito, Yasuyuki Kitaura, Kyoka Iino, Kazuya Toriumi, Hyunah Noh, Naoya Ogawa, Makoto Arai, Hisashi Hemmi, Tomokazu Ito   +8 more
wiley   +1 more source

Analysis of mutations in 7 genes associated with neuronal excitability and synaptic transmission in a cohort of children with non-syndromic Infantile Epileptic Encephalopathy [PDF]

, 2015
published_or_final_versio
Fung, CW, Ho, CCA, Kwong, AKY, Wong, VCN
core   +1 more source

PLP Homeostasis Protein Is Required for Efficient Maturation of Aromatic Amino Acid Aminotransferase in Salmonella enterica

Molecular Microbiology, EarlyView.
Cellular pool of aromatic amino acid aminotransferase proteins represented as holo‐ or apo‐ enzymes, reflecting presence or absence of associated PLP. Status of PLPHP is implicated in determining the ratio of holo‐ and apo‐TyrB. ABSTRACT Pyridoxal 5′‐phosphate (PLP) is an essential cofactor required for metabolic functions including amino acid ...
Brandi A. Buckner, Diana M. Downs
wiley   +1 more source

Pyridoxine-dependent epilepsy in two Turkish patients in Turkey and review of the literature

The Turkish Journal of Pediatrics, 2015
Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive enzyme defect in the vitamin B6 metabolism characterized by intractable seizures which are usually resistant to all antiepileptic drugs but respond to pharmacological doses of ...
Gülen Gül-Mert, Faruk İncecik, M Özlem Hergüner, Serdar Ceylaner, Şakir Altunbaşak   +4 more
doaj  

A Novel Multimodal LC–MS/MS Panel for the Comprehensive Diagnosis of Neurometabolic Disorders in CSF

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT Metabolic testing of cerebrospinal fluid (CSF) is essential for early diagnosis of neurometabolic disorders. However, the large number of differential diagnoses, the phenotypic variance within a clinical picture, and the disease rarity complicate targeted metabolic diagnostics.
Stine Christ, Julia Rossmann, Sylvia Richter, Sven Garbade, Glynis Klinke, Nenad Blau, Georg Friedrich Hoffmann, Jürgen Günther Okun, Thomas Opladen   +8 more
wiley   +1 more source

Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome [PDF]

, 2017
Mutations in PNPO are a known cause of neonatal onset seizures that are resistant to pyridoxine but responsive to pyridoxal phosphate (PLP). Mills etal. show that PNPO mutations can also cause neonatal onset seizures that respond to pyridoxine but worsen
Bala, Pronab, Baumgartner, Matthias R., Calvert, Sophie, Camuzeaux, Stephane S.M., Chong, W. Kling, Clayton, Peter T., Das, Krishna B., Del Giudice, Ennio, Feillet, François, Fisher, Laura, Footitt, Emma J., Gissen, Paul, Livingston, John H., Maier, Oliver, McWilliam, Robert, Mills, Kevin A., Mills, Philippa B., Morel, Chantal F., Pitt, Matthew, Plecko, Barbara, Raimondi, Francesco, Riney, Kate, Stödberg, Tommy, Varadkar, Sophia M., Wolf, Nicole I., Zuberi, Sameer   +25 more
core  

Metabolic engineering of micronutrients in crop plants [PDF]

, 2016
Micronutrient deficiency is a widespread phenomenon, most prevalent in developing countries. Being causally linked to the occurrence of a range of diseases, it affects billions of people worldwide. Enhancing the content of micronutrients in crop products
Blancquaert, Dieter, De Steur, Hans, Gellynck, Xavier, Van Der Straeten, Dominique   +3 more
core   +2 more sources

Neonatal Refractory Seizures and Hyperammonemia in a Neonate With ALDH7A1 Deficiency

Clinical Case Reports
Pyridoxine‐dependent epilepsy (PDE) is a rare, autosomal recessive neurometabolic disorder characterized by intractable seizures responsive to pyridoxine.
Maryam Saeedi, Kayvan Mirnia, Sahar Sedighzadeh, Razieh Sangsari   +3 more
doaj   +1 more source

Identification of a Novel Homozygous SCN1B Splice‐Site Variant in a Consanguineous Families With Early‐Onset Epilepsy: A Case Series and Review of Literature

Molecular Genetics &Genomic Medicine, Volume 14, Issue 5, May 2026.
Exome Sequencing identified SCN1B splice site variant in two unrelated consanguineous Pakistani families. (A) Pedigree chart of a family. Circles represent females, squares represent males. Filled symbols represent affected status. Genotype is mentioned below the symbols.
Anees Muhammad, Shafaq Ramzan, Hammad Yousaf, Rafia Zafar Ghumman, Farhan Bahadar Ali, Muhammad Athar Khalily, Asmat Ali, Wajid Ali, Salma Zia, Najeeb Ullah Khan, Muhammad Tahir Sarwar, Matias Toft, Zafar Iqbal, Ambrin Fatima   +13 more
wiley   +1 more source

Honey as a Natural Flavorful Product: A Comprehensive Review of Its Potential Biological Activities and Recent Studies

Food Science &Nutrition, Volume 14, Issue 4, April 2026.
Health impacts of honey. ABSTRACT Honey is a natural and nutritious product of the honey bee (Apis mellifera) with low water content. Its color ranges from white to amber, with taste varying accordingly. The chemical form and viscosity of honey depend on its composition.
Ecem Bolat, Ahmet Alperen Canbolat, Sümeyye Sarıtaş, Mauro Lombardo, Anna Maria Witkowska, Hesham El‐Seedi, Mikhael Bechelany, Sercan Karav   +7 more
wiley   +1 more source