Results 41 to 50 of about 107,475 (169)

Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies

Orphanet Journal of Rare Diseases, 2020
Background Tetrahydrobiopterin (BH4) deficiencies comprise a group of six rare neurometabolic disorders characterized by insufficient synthesis of the monoamine neurotransmitters dopamine and serotonin due to a disturbance of BH4 biosynthesis or ...
Thomas Opladen, Eduardo López-Laso, Elisenda Cortès-Saladelafont, Toni S. Pearson, H. Serap Sivri, Yilmaz Yildiz, Birgit Assmann, Manju A. Kurian, Vincenzo Leuzzi, Simon Heales, Simon Pope, Francesco Porta, Angeles García-Cazorla, Tomáš Honzík, Roser Pons, Luc Regal, Helly Goez, Rafael Artuch, Georg F. Hoffmann, Gabriella Horvath, Beat Thöny, Sabine Scholl-Bürgi, Alberto Burlina, Marcel M. Verbeek, Mario Mastrangelo, Jennifer Friedman, Tessa Wassenberg, Kathrin Jeltsch, Jan Kulhánek, Oya Kuseyri Hübschmann, on behalf of the International Working Group on Neurotransmitter related Disorders (iNTD)   +30 more
doaj   +1 more source

Tetrahydrobiopterin deficiencies: Lesson from clinical experience

JIMD Reports, 2021
Objectives The present study describes clinical, biochemical, molecular genetic data, current treatment strategies and follow‐up in nine patients with tetrahydrobiopterin (BH4) deficiency due to various inherited genetic defects.
Ayse Ergul Bozaci, Esra Er, Havva Yazici, Ebru Canda, Sema Kalkan Uçar, Merve Güvenc Saka, Cenk Eraslan, Hüseyin Onay, Sara Habif, Beat Thöny, Mahmut Coker   +10 more
doaj   +1 more source

Proteo‐transcriptomic insights into the venom composition of the ectoparasitoid Eupelmus urozonus

Pest Management Science, EarlyView.
Integrated venom‐gland transcriptomics and venom proteomics of Eupelmus urozonus identified 316 venom proteins, including 75 secreted candidates, revealing diverse hydrolases, proteases/inhibitors and many uncharacterized effectors. Abstract BACKGROUND Ectoparasitoid venoms are ‘cocktails’ of bioactive molecules injected during oviposition to paralyze ...
Federica De Stefano, Carmen Scieuzo, Rosanna Salvia, Riccardo Moretti, Flora Cozzolino, Maria Monti, Heiko Vogel, Patrizia Falabella   +7 more
wiley   +1 more source

Insulin Stimulates Tetrahydrobiopterin Synthesis in Mouse Brain Microvascular Endothelial Cells

Pteridines, 1999
We examined the effects of insulin on tetrahydrobiopterin (BH4) synthesis in mouse brain microvascular endothelial cells (MBMECs). Treatment of MBMECs with insulin increased the intracellular BH4 content in a time- and concentration-dependent manner. The
Ishi Masakazu, Shimizu Shunichi, Nagai Tsutomu, Kiuchi Yuji, Yamamoto Toshinori   +4 more
doaj   +1 more source

Global Proteomic Analysis of Sperm and Seminal Plasma From Tropically‐Adapted Rams With Contrasting Parameters of Frozen‐Thawed Semen

Molecular Reproduction and Development, Volume 93, Issue 10, October 2026.
ABSTRACT The aim of this study was to characterize the proteome of sperm and seminal plasma (SP) from rams with high semen freezability (HF) and low semen freezability (LF). Eleven ejaculates were collected from 12 rams, at 3‐day intervals, and cryopreserved (132 semen samples).
Wallisson Bruno de Morais Pacheco, Iran Aguila Maciel, Suane Santos Alves dos Santos, Alan Martins de Araújo, Francisca Nágila Matos Almeida, Denise Damasceno Guerreiro, Sheheryar Sheheryar, Lais Lacerda Brasil de Oliveira, Felipe Domingos de Sousa, Mohibullah Shah, Maria Elisabete Amaral Moraes, Carlos Roberto Koscky Paier, Ana Cristina de Oliveira Monteiro, Carminda Sandra Brito Salmito‐Vanderley, Arlindo A. Moura   +14 more
wiley   +1 more source

Purification and Characterization of a Carbonyl Reductase from Human Liver, which is Competent in the Reduction of 6-Pyruvoyl-Tetrahydropterin

Pteridines, 1989
An enzyme which reduces 6-pyruvoyl-tetrahydropterin has been purified to apparent homogeneity from human liver. It consists of a single polypeptide chain with a molecular weight of 35 kDa, has an isoelectric point of 5.9 ± 0.1 and contains no glycosyl ...
Steinerstauch Petra, Sawada Yoshitomo, Leimbacher Walter, Ghisla Sandro, Curtius Hans-Christoph   +4 more
doaj   +1 more source

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

Vitamin‐Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Vitamin‐dependent cofactors are essential for numerous metabolic reactions, and defects affecting their uptake, conversion, utilisation, or regeneration constitute a heterogeneous group of inherited metabolic disorders (IMDs). Although dietary vitamin intake is sufficient to sustain coenzyme synthesis in healthy individuals, it is insufficient
Cécile Acquaviva, Yann Nadjar, Manuel Schiff, Christine Vianey‐Saban, Alain Fouilhoux, Jean‐François Benoist   +5 more
wiley   +1 more source

Tetrahydrobiopterin (Bh4) deficiencies: diagnosis and treatment

Acta Pediátrica de México, 2014
Tetrahydrobiopterin (BH4) is an enzyme cofactor of phenylalanine hydroxylase, tyrosine hydroxylase and tryptophan hydroxylase. Three different enzymes affect BH4 synthesis: guanosine triphosphate cyclohydrolase I (GTP CH 1), 6-piruvoil tetrahydropterin ...
Mercedes Martínez-Pardo
doaj   +1 more source

Cloning And Ontogenic Expression Of Sepiapterin Reductase Mrna In Zebrafish Embryo : Possible Role In Pteridine Biosynthesis [QL767. K95 2008 f rb]. [PDF]

, 2008
Sepiapterin reductase (SR, EC1.1.1.153) memangkinkan langkah terakhir di dalam laluan biosintesis de novo bagi tetrahidrobiopterin (BH4), yang mana merupakan kofaktor sangat penting untuk penghasilan pteridin di dalam kromatofor teleost.
Kuah, Meng Kiat
core   +1 more source