Results 131 to 140 of about 40,643 (298)

The CRISPR‐Cas9 knockout DDC SH‐SY5Y in vitro model for AADC deficiency provides insight into the pathogenicity of R347Q and L353P variants: a cross‐sectional structural and functional analysis

The FEBS Journal, EarlyView.
Here, we generated a DDC‐KO cellular model for studying aromatic amino acid decarboxylase (AADC) deficiency. This model was created using CRISPR‐Cas9 in the SH‐SY5Y neuroblastoma cell line and was validated through the absence of the dopamine product and an altered l‐dopa metabolite profile.
Cristian Andres Carmona‐Carmona, Giovanni Bisello, Rossella Franchini, Gianluigi Lunardi, Roberta Galavotti, Massimiliano Perduca, Rui P. Ribeiro, Benny Danilo Belviso, Alejandro Giorgetti, Rocco Caliandro, Patricia M.‐J. Lievens, Mariarita Bertoldi   +11 more
wiley   +1 more source

Effect of blood contamination of cerebrospinal fluid on amino acids, biogenic amines, pterins and vitamins

Fluids and Barriers of the CNS, 2019
Background Cerebrospinal fluid (CSF) metabolomic investigations are a powerful tool for studying neurometabolic diseases. We aimed to assess the effect of CSF contamination with blood on the concentrations of selected biomarkers. Methods CSF samples were
Marta Batllori, Mercedes Casado, Cristina Sierra, Maria del Carmen Salgado, Laura Marti-Sanchez, Joan Maynou, Guerau Fernandez, Angels Garcia-Cazorla, Aida Ormazabal, Marta Molero-Luis, Rafael Artuch   +10 more
doaj   +1 more source

How accurate is Poisson-Boltzmann theory for monovalent ions near highly charged interfaces? [PDF]

Langmuir 22, 5673-5681 (2006), 2006
Surface sensitive synchrotron x-ray scattering studies were performed to obtain the distribution of monovalent ions next to a highly charged interface. A lipid phosphate (dihexadecyl hydrogen-phosphate) was spread as a monolayer at the air-water interface to control surface charge density.
arxiv  

Perspectives on the interpretation of mitochondrial responses during skeletal muscle disuse‐induced atrophy

The Journal of Physiology, EarlyView.
Abstract figure legend Common human and rodent muscle disuse models and associated changes in skeletal muscle mitochondrial function; respiration, redox stress and apoptotic cell death. I–V, complexes I–V; ETF, electron transfer flavoprotein; Q, Q cycle; C, cytochrome c; Pi, inorganic phosphate; ROS, reactive oxygen species.
Luca J. Delfinis, Shahrzad Khajehzadehshoushtar, Christopher G. R. Perry   +2 more
wiley   +1 more source

Late-onset drug-resistant epilepsy in pyridoxamine 5′-phosphate oxidase deficiency: a case report

Journal of Medical Case Reports
Background Pyridoxamine 5′-phosphate oxidase deficiency is a rare inborn error of vitamin B6 metabolism that presents with drug-resistant epileptic seizures.
Erfan Naghavi, Afshan Davari, Amir Reza Bahadori, Mohammad Razmafrooz, Hamed AmiriFard, Iman Sabzgolin, Abbas Tafakhori, Mehrdad Sheikhvatan, Sara Ranji   +8 more
doaj   +1 more source

Outcome of Teriparatide Treatment on Fracture Healing Complications and Symptomatic Bone Marrow Edema in Four Adult Patients With Hypophosphatasia

JBMR Plus, 2019
The response to teriparatide has been described in very few cases of hypophosphatasia (HPP). In this cross‐sectional study, we report the prevalence of symptomatic bone marrow edema (BME) and fracture healing complications in a large cohort of childhood ...
Tobias Schmidt, Tim Rolvien, Carolin Linke, Nico Maximilian Jandl, Ralf Oheim, Michael Amling, Florian Barvencik   +6 more
doaj   +1 more source

Multiplexed Assessment of Promiscuous Non-Canonical Amino Acid Synthase Activity in a Pyridoxal Phosphate-Dependent Protein Family. [PDF]

ACS Catal, 2023
Zmich A, Perkins LJ, Bingman C, Acheson JF, Buller AR.   +4 more
europepmc   +1 more source

Integrating gene and protein expression data with genome-scale metabolic networks to infer functional pathways [PDF]

, 2013
This article has been made available through the Brunel Open Access Publishing Fund. Copyright @ 2013 Pey et al.; licensee BioMed Central Ltd. This is an open access article distributed under the terms of the Creative Commons Attribution License (http://
Beasley, JE, Pey, J, Planes, FJ, Rubio, A, Valgepea, K   +4 more
core   +1 more source

HR‐MS Analysis of the Covalent Binding of Edaravone to 5‐Formylpyrimidine Bases and a DNA Oligonucleotide Containing a 5‐Formylcytidine Residue

Rapid Communications in Mass Spectrometry, Volume 39, Issue 14, 30 July 2025.
ABSTRACT Rationale Edaravone (EDA) is a radical scavenger and an antioxidant drug approved to treat amyotrophic lateral sclerosis and used as a research tool to explore treatment of neurodegenerative diseases and cancers. It is also a reactive agent, known as PMP (1‐phenyl‐3‐methyl‐5‐pyrazolone), used for the analysis of polysaccharides composition ...
Romain Regnault, Mostafa Kouach, Laurence Goossens, Xavier Thuru, Christian Bailly, Jean‐François Goossens   +5 more
wiley   +1 more source

Structural and Functional Analysis of the Pyridoxal Phosphate Homeostasis Protein YggS from Fusobacterium nucleatum. [PDF]

Molecules, 2022
He S, Chen Y, Wang L, Bai X, Bu T, Zhang J, Lu M, Ha NC, Quan C, Nam KH, Xu Y.   +10 more
europepmc   +1 more source