Results 61 to 70 of about 1,567 (165)

The novel aminoglycoside, ELX-02, permits CTNSW138X translational read-through and restores lysosomal cystine efflux in cystinosis.

PLoS ONE, 2019
BACKGROUND:Cystinosis is a rare disorder caused by recessive mutations of the CTNS gene. Current therapy decreases cystine accumulation, thus slowing organ deterioration without reversing renal Fanconi syndrome or preventing eventual need for a kidney ...
Emma J Brasell, Lee Lee Chu, Murielle M Akpa, Idit Eshkar-Oren, Iris Alroy, Rachel Corsini, Brian M Gilfix, Yojiro Yamanaka, Pedro Huertas, Paul Goodyer   +9 more
doaj   +1 more source

Nephropathic Cystinosis: Symptoms, Treatment, and Perspectives of a Systemic Disease

Frontiers in Pediatrics, 2018
Cystinosis is a rare autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene. Main dysfunction is a defective clearance of cystine from lysosomes that leads to accumulation of cystine crystals in every tissue of the body ...
Sören Bäumner, Lutz T. Weber
doaj   +1 more source

The emerging role of Nrf2 in heart failure: From cardioprotection to therapeutic approaches

ESC Heart Failure, Volume 12, Issue 6, Page 4000-4020, December 2025.
Nrf2 signalling is impaired in heart failure, contributing to oxidative stress, mitochondrial dysfunction, and ferroptosis, which drive neurohormonal activation, inflammation, and ischaemia‐reperfusion injury. This loss of Nrf2 activity exacerbates hypertension, diabetic cardiomyopathy, and cardiotoxicity, accelerating progression to overt heart ...
Emiliano Fiori, Sergio Davinelli, Armando Ferrera, Alessandro Medoro, Carlo Barsali, Allegra Battistoni, Maurizio Volterrani, Massimo Volpe, Luciano Saso, Speranza Rubattu   +9 more
wiley   +1 more source

A rare case of a patient with cystinosis and COVID-19 pneumonia with difficult weaning from mechanical ventilation: the “pocus force”

Journal of Anesthesia, Analgesia and Critical Care, 2022
Here, we describe the case of a 39-year-old woman with cystinosis who already suffered from an extra parenchymal pattern of restrictive lung disease and, after SARS-CoV-2-related respiratory failure, had a difficult weaning from mechanical ventilation ...
Luigi Vetrugno, Valentina Angelini, Simone Antonio Smiraglia, Elisabetta Saraceni, Pierluigi Di Giannatale, Salvatore Maurizio Maggiore   +5 more
doaj   +1 more source

The Concise Guide to PHARMACOLOGY 2025/26: Transporters

British Journal of Pharmacology, Volume 182, Issue S1, Page S404-S496, December 2025.
The Concise Guide to Pharmacology 2025/26 marks the seventh edition in this series of biennial publications in the British Journal of Pharmacology. Presented in landscape format, the guide provides a comparative overview of the pharmacology of drug target families. The concise nature of the Concise Guide refers to the style of presentation, being clear,
Stephen P. H. Alexander, Alasdair J. Gibb, Eamonn Kelly, Alistair A. Mathie, Chloe J. Peach, Emma L. Veale, Jane F. Armstrong, Elena Faccenda, Simon D. Harding, Christopher Southan, Jamie A. Davies, Laura Amarosi, Catriona M. H. Anderson, Philip M. Beart, Stefan Broer, Paul A. Dawson, Gergely Gyimesi, Bruno Hagenbuch, James R. Hammond, Jules C. Hancox, Michal Hershfinkel, Ken‐ichi Inui, Yoshikatsu Kanai, Stephan Kemp, Edmund R. S. Kunji, Gavin Stewart, Sotiria Tavoulari, David T. Thwaites, Tiziano Verri   +28 more
wiley   +1 more source

Circulating histones as clinical biomarkers in critically ill conditions

FEBS Letters, Volume 599, Issue 22, Page 3174-3195, November 2025.
Circulating histones are emerging as promising biomarkers in critical illness due to their diagnostic, prognostic, and therapeutic potential. Detection methods such as ELISA and mass spectrometry provide reliable approaches for quantifying histone levels in plasma samples.
José Luis García‐Gimenez, Juan Carlos Ruiz‐Rodríguez, Ricard Ferrer, Raquel Durá, Antonio Artigas, Iván Bajaña, David Bolado López de Andujar, Irene Cánovas‐Cervera, Adrián Ceccato, Luis Chiscano‐Camón, Elena Climent‐Martinez, Georgia García Fernández, Gemma Goma, Verónica Monforte, Beatriz Quevedo‐Sánchez, Adolf Ruiz‐Sanmartín, Antonio Sierra‐Rivera, Nieves Carbonell Monleón   +17 more
wiley   +1 more source

Chromosomal Mapping of HumanarmadilloGenes Belonging to the p120ctn/Plakophilin Subfamily

Genomics, 1998
Armadillo-like proteins are characterized by a series of armadillo repeats that are typically 42 to 45 amino acids in length. Three major subfamilies of Armadillo-like proteins can be distinguished on the basis of their number of repeats, their overall sequence similarity, and dispersion of the repeats throughout the protein.
Bonne, Stefan, Van Hengel, Jolanda, Van Roy, F.   +2 more
openaire   +3 more sources

Intermediate type cystinosis with a novel CTNS variant in a child: a case report

Journal of Rare Diseases
Cystinosis is a rare lysosomal storage disorder caused by a variant in the CTNS gene that leads to the accumulation of cystine in the body’s tissues.
Mugahid Elamin, Ghada Alzhrany, Reem Mohamed, Wafa Daw, Bashiar Alabbasi, Muawia Ahmed, Yassir Bakhiet, Yomna Aloufi, Majed Aloufi   +8 more
doaj   +1 more source

Morphological Brain Alterations and Network Disorganizations in Individuals With Substance Use Disorders: Differential Effects of Heroin Versus Methamphetamine

Brain and Behavior, Volume 15, Issue 11, November 2025.
Our morphological brain network analysis of 82 participants reveals that these substances leave dramatically different fingerprints that persist even in recovery, with heroin causing global network collapse through increased path lengths across the entire cortex, while methamphetamine selectively damages temporal parietal, and visual processing centers.
Xiaoliang Zhou, Wenbin Liang, Mingwu Lou, Jiangpei Zhao   +3 more
wiley   +1 more source

Decreased expression of catenins (? and ?), p120 CTN, and E-cadherin cell adhesion proteins and E-cadherin gene promoter methylation in prostatic adenocarcinomas [PDF]

Cancer, 2001
Catenin/E-cadherin complex proteins play an important role in cell-cell adhesion with decreased expression correlating with adverse prognostic variables in several human malignancies.Archival formalin fixed, paraffin embedded (FFPE) sections from 118 prostatic adenocarcinomas (PACs) were immunostained by an automated method (Ventana Medical Systems ...
B V, Kallakury, C E, Sheehan, E, Winn-Deen, J, Oliver, H A, Fisher, R P, Kaufman, J S, Ross   +6 more
openaire   +2 more sources