Results 91 to 100 of about 4,018 (220)

A Novel Mutation in CNTNAP1 Gene Causes Disorganization of Axonal Domains, Hypomyelination and Severe Neurological Deficits

Journal of Neuroscience Research, Volume 103, Issue 4, April 2025.
Sell et al. report that a single amino acid change at glycine 350 to valine in mouse Cntnap1 disrupts protein function and compromises the paranodal domain organization and axo‐glial junction formation, leading to neurological deficits, which are all rescued by neuronal expression of the wild‐type Cntnap1 gene.
Lacey B. Sell, Carson Zabel, Sabine Weller Grønborg, Qian Shi, Manzoor A. Bhat   +4 more
wiley   +1 more source

Brain Peroxisomes [PDF]

, 2013
Peroxisomes are essential organelles in higher eukaryotes as they play a major role in numerous metabolic pathways and redox homeostasis. Some peroxisomal abnormalities, which are often not compatible with life or normal development, were identified in ...
Geillon, Flore, Gondcaille, Catherine, Lizard, Gérard, Nury, T., Savary, Stéphane, Trompier, Doriane, Vejux, A., Zarrouk, A.   +7 more
core   +2 more sources

Further studies on the substrate spectrum of phytanoyl-CoA hydroxylase

Journal of Lipid Research, 2003
Refsum disease is a peroxisomal disorder characterized by adult-onset retinitis pigmentosa, anosmia, sensory neuropathy, ataxia, and an accumulation of phytanic acid in plasma and tissues.
Veerle Foulon, Stanny Asselberghs, Wendy Geens, Guy P. Mannaerts, Minne Casteels, Paul P. Van Veldhoven   +5 more
doaj   +1 more source

An Anaerobic Microbial Community Mediates Epigenetic Native Sulfur and Carbonate Formation During Replacement of Messinian Gypsum at Monte Palco, Sicily

Geobiology, Volume 23, Issue 2, March/April 2025.
ABSTRACT The microbially mediated replacement of sulfate‐bearing evaporites by authigenic carbonate and native sulfur under anoxic conditions is poorly understood. Sulfur‐bearing carbonates from the Monte Palco ridge (Sicily) replacing Messinian gypsum were therefore studied to better characterize the involved microorganisms.
Simon E. Rouwendaal, Daniel Birgel, Marcello Natalicchio, Francesco Dela Pierre, Laetitia Guibourdenche, Thorsten Bauersachs, Giovanni Aloisi, Amanda L. Labrado, Benjamin Brunner, Jörn Peckmann   +9 more
wiley   +1 more source

The Development of a Direct Homologous Radioimmunoassay for Serum Cortisol [PDF]

, 1981
Peer ...
Giesemann, G., Müller, O. A., Scriba, Peter Christian, Stalla, G., Wood, W. G.   +4 more
core   +2 more sources

Impact of Fabp1/Scp-2/Scp-x gene ablation (TKO) on hepatic phytol metabolism in mice[S]

Journal of Lipid Research, 2017
Studies in vitro have suggested that both sterol carrier protein-2/sterol carrier protein-x (Scp-2/Scp-x) and liver fatty acid binding protein [Fabp1 (L-FABP)] gene products facilitate hepatic uptake and metabolism of lipotoxic dietary phytol.
Stephen M. Storey, Huan Huang, Avery L. McIntosh, Gregory G. Martin, Ann B. Kier, Friedhelm Schroeder   +5 more
doaj   +1 more source

From Complexity to Clarity: Expanding Metabolome Coverage With Innovative Analytical Strategies

Journal of Separation Science, Volume 48, Issue 2, February 2025.
ABSTRACT Metabolomics, a powerful discipline within systems biology, aims at comprehensive profiling of small molecules in biological samples. The challenges of biological sample complexity are addressed through innovative sample preparation methods, including solid‐phase extraction and microextraction techniques, enhancing the detection and ...
Kanukolanu Aarika, Ramijinni Rajyalakshmi, Lakshmi Vineela Nalla, Siva Nageswara Rao Gajula   +3 more
wiley   +1 more source

Peroxisomes and disease - an overview. [PDF]

, 2016
Peroxisomes are indispensable for human health and development. They represent ubiquitous subcellular organelles which compartmentalize enzymes responsible for several crucial metabolic processes such as β-oxidation of specific fatty acids, biosynthesis ...
Bonekamp, NA, Delille, HK, Schrader, M
core  

Non-genomic effects of nuclear receptors: insights from the anucleate platelet [PDF]

, 2018
Nuclear receptors have the ability to elicit two different kinds of responses, genomic and non-genomic. While genomic responses control gene expression by influencing the rate of transcription, non-genomic effects occur rapidly and independently of ...
Ahmadian, Ahuja, Ajayi, Ajjan, Akarasereenont, Akbiyik, Ali, Ali, Ali, Amanda J Unsworth, Badimon, Bain, Bar, Beckman, Bishop-Bailey, Bledsoe, Boilard, Boonyaratanakornkit, Borsig, Burris, Bye, Calkin, Campelo, Cecchetti, Cesario, Chinetti, Cumhur Cure, Dolle, Du, Duong, El Haouari, Evans, Falkenstein, Filippatos, Frye, Gabbi, Gagan D Flora, Ghasri, Güncü, Hammes, Hankey, Hellgren, Huang, Johnson, Johnson, Jonathan M Gibbins, Jones, Kadmiel, Kato, Kersten, Khan, Khetawat, Kiss, Krasowski, Kwon, Layton, Lee, Li, Liverani, Losel, Makishima, Matsuda, Maximov, McKenna, Mencarelli, Moraes, Moraes, Moraes, Moraes, Moraes, Morrell, Muchmore, Murphy, Nadal, Nathan, Ng, Njar, Noy, Ordóñez-Morán, Overington, Pilo, Richard, Risitano, Rondina, Rowley, Santilli, Sato, Schaffer, Schneider, Schubert, Schulz, Schwertz, Sepe, Sidhu, Silvagno, Spyridon, Sundahl, Trayhurn, Unsworth, Unsworth, Unsworth, Unsworth, Valera, Walmsley, Wang, Wu‐Wong, Wójcicka, Xu, Zimmerman   +108 more
core   +2 more sources

Signs of the sacred at the sanctuary of Gravisca, Italy: reconstruction of an Etruscan ritual through a multidisciplinary approach

Archaeometry, Volume 67, Issue 1, Page 235-247, February 2025.
Abstract Archaeological campaigns carried out at the emporic sanctuary of Gravisca (Tarquinia, Italy) have revealed extraordinary evidence for ritual depositions and ceremonies linked to the divinities/guarantors of the sanctuary. The ritual of one such deposition was reconstructed using a multidisciplinary approach, comprising an in‐depth analysis of ...
Giulia Patrizi, Maxime Rageot, Sara Cafisso, Antonio Pennetta, Lucio Fiorini, Giuseppe Egidio De Benedetto, Cynthianne Spiteri, Girolamo Fiorentino   +7 more
wiley   +1 more source