Results 61 to 70 of about 4,597 (153)

PIK3CA Mutations Downregulate PPT1 to Promote Adipogenesis by Suppressing P300 Depalmitoylation and Phase Separation

Advanced Science, Volume 13, Issue 19, 2 April 2026.
This study demonstrates that somatic PIK3CA mutations suppress PPT1 expression via activation of the PI3K–AKT–c‐JUN axis. This reduction in PPT1 weakens its interaction with P300, thereby increasing palmitoylation at C1176 of P300 and protecting P300 from lysosomal degradation.
Hongrui Chen, Zening Huang, Rui Chang, Wei Gao, Yajing Qiu, Bin Sun, Chen Hua, Xiaoxi Lin   +7 more
wiley   +1 more source

Strategies to shorten diagnostic delays for late infantile neuronal ceroid lipofuscinosis type 2 (CLN2 disease)

Molecular Genetics and Metabolism, 2020
IntroductionLate infantile neuronal ceroid lipofuscinosis type 2 (CLN2 disease) is a rare neurodegenerative paediatric disorder in the neuronal ceroid lipofuscinoses (NCL) family of lysosomal storage disorders1 CLN2 disease is caused by mutations in TPP1, which result in deficiencies of the lysosomal enzyme tripeptidyl peptidase 1 (TPP1), leading to ...
Mazurkiewicz-Beldziska, Maria, Del Toro, Mireia, Hahn, Andreas, Haliloglu, Göknur, Huidekoper, Hidde, Kravljanac, Ruzica, Mühlhausen, Chris, Andersen, Brian Nauheimer; id_orcid 0000-0002-6404-1667, Prpic, Igor, Striano, Pasquale, Auvin, Stephanie   +10 more
openaire   +3 more sources

Clinical Evaluation of Three KRS Families and Cellular Analysis of Distinct ATP13A2 Mutations Reveal Different Levels of Iron Accumulation

Journal of Neurochemistry, Volume 170, Issue 4, April 2026.
Different ATP13A2 mutations associated with Kufor‐Rakeb Syndrome (KRS) result in varying levels of intracellular iron accumulation. Frameshift and deletion mutations lead to excessive iron accumulation and increased cell death, whereas missense mutations cause milder functional impairment, resulting in lower iron accumulation and reduced cellular ...
Ezgi Erterek, Benan Temizci, Şeyma Tekgül, Bilal Çakır, A. Nazlı Başak, Murat Gültekin, Zuhal Yapıcı, Arzu Karabay   +7 more
wiley   +1 more source

Expert‐Designed Fact Sheets and AI‐Based Analysis of Patient Symptoms to Combat Diagnostic Delays in Inherited Metabolic Diseases

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT The importance of early diagnosis of inherited metabolic diseases (IMDs) is well known, as it allows early intervention to prevent or reduce complications and improve prognosis, since many of these disorders are treatable. However, diagnosis can still be delayed, and many patients remain undiagnosed. Reducing diagnosis delays is a primary goal
Aline Cano, Xiaoyi Chen, Azza Khemiri, Anais Brassier, Arnoux Jean‐Baptiste, Roseline Froissart, Juliette Bouchereau, Célia Hoebeke, Karin Mazodier, Bénédicte Héron, Philippe Labrune, Catherine Caillaud, David Cheillan, Yann Nadjar, Samia Pichard, Apolline Imbard, Magali Pettazzoni, Claire Douillard, Belmatoug Nadia, Anna‐Line Calatayud, Mounira Zerguini, Nicolas Garcelon, Jean‐François Benoist, Cécile Acquaviva, Pascale De Lonlay, the other members of the expert group consortium, Marie‐Thérèse Abi‐Warde, Cécile Acquaviva, Jean‐Baptiste Arnoux, Stéphanie Badiou, Magalie Barth, Nadia Belmatoug, Jean‐François Benoist, Juliette Bouchereau, Anais Brassier, Arnaud Bruneel, Catherine Caillaud, Aline Cano, Brigitte Chabrol, David Cheillan, Emmanuelle Corbe‐Guillard, Christelle Corne, Lena Damaj, Myriam Dao, Pascale De Lonlay, Anne‐Frédérique Dessein, Dries Dobbelaere, Claire Douillard, Thierry Dupré, François Feillet, Roseline Froissart, Margaux Gaschignard, Magali Gorce, Laurent Gouya, Anne‐Sophie Guemann, Bénédicte Héron, Célia Hoebeke, Apolline Imbard, Elsa Kaphan, François Labarthe, Philippe Labrune, Pascal Laforet, Thierry Levade, Elise Lebigot, Edouard Le Guillou, Olivier Lidove, Julien Maquet, Wladimir Mauhin, Clothilde Marbach, Karin Mazodier, Karine Mention, Fanny Mochel, Caroline Moreau, Yann Nadjar, Esther Noel, Mickael Obadia, Cécile Pagan, Magali Pettazzoni, Samia Pichard, Clement Pontoizeau, Aurélia Poujois, Isabelle Redonnet‐Vernhet, Frédérique Sabourdy, Manuel Schiff, Christine Serratrice, Aude Servais, Caroline Sevin, Anne Spraul, Bénédicte Sudrié, Marine Tardieu, Sandrine Vuillaumier, Camille Wicker, Arnaud Wiedemann‐Fode, Vincent Barlogis, Nathalie Boddaert, Kanetee Busiah, Annabelle Chaussenot, Dominique Debray, Céline Falaise, Muriel Girard, Dalila Habes, Annie Harroche, Florence Lacaille, Mehdi Oualha, Caroline Ovaert, Rachel Reynaud, Caroline Rousset‐Rouvière, Cécile Rouzier, Karim Wahbi   +108 more
wiley   +1 more source

The Networks of Genes Encoding Palmitoylated Proteins in Axonal and Synaptic Compartments Are Affected in PPT1 Overexpressing Neuronal-Like Cells

Frontiers in Molecular Neuroscience, 2017
CLN1 disease (OMIM #256730) is an early childhood ceroid-lipofuscinosis associated with mutated CLN1, whose product Palmitoyl-Protein Thioesterase 1 (PPT1) is a lysosomal enzyme involved in the removal of palmitate residues from S-acylated proteins.
Francesco Pezzini, Marzia Bianchi, Salvatore Benfatto, Francesca Griggio, Stefano Doccini, Rosalba Carrozzo, Arvydas Dapkunas, Massimo Delledonne, Filippo M. Santorelli, Maciej M. Lalowski, Alessandro Simonati   +10 more
doaj   +1 more source

Neurofilament light is a treatment‐responsive biomarker in CLN2 disease

Annals of Clinical and Translational Neurology, 2019
Objective Neuronal ceroid lipofuscinosis type 2 (CLN2 disease) is a rare, progressive, fatal neurodegenerative pediatric disorder resulting from deficiencies of the lysosomal enzyme tripeptidyl peptidase 1 that are caused by mutations in TPP1 ...
Yuanbin Ru, Carley Corado, Russell K. Soon Jr, Andrew C. Melton, Adam Harris, Guoying K. Yu, Nancy Pryer, John R. Sinclair, Martin L. Katz, Temitayo Ajayi, David Jacoby, Chris B. Russell, Sanjay Chandriani   +12 more
doaj   +1 more source

Challenges and possibilities of selective laboratory diagnostics of neuronal ceroid lipofuscinosis types 1 and 2 in Croatia

Paediatria Croatica, 2020
Neuronal ceroid lipofuscinoses are one of the most common neurometabolic disorders in children. Enhanced diagnostic and therapeutic possibilities, primarily for ceroid lipofuscinosis type 2, presents a challenge for timely diagnosis, which is mostly off ered in large diagnostic centres.
Fumić, Ksenija, Bilandžija Kuš, Iva
openaire   +1 more source

Fluorescent Dyes for Probing Intracellular and Subcellular Polarity

Chemistry–Methods, Volume 6, Issue 1, January 2026.
Fluorescent probes are crucial tools for measuring cellular microenvironment polarity, a parameter that influences physiological organelle function and diseases such as cancer. This text details the probes' physicochemical principles, intracellular targeting strategies, and key photophysical parameters for polarity estimation.
M. Carmen Gonzalez‐Garcia, Maria J. Ruedas‐Rama, Juan A. González‐Vera, Emilio Garcia‐Fernandez, Angel Orte   +4 more
wiley   +1 more source

Untargeted Metabolomics for Diagnosis, Monitoring, and Understanding the Pathophysiology of Inherited Metabolic Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT Inherited metabolic disorders (IMDs) encompass a diverse and expanding group of rare diseases caused by genetic disruptions mainly in metabolic enzymes and transporters. Clinical diagnosis of IMDs presents significant challenges due to phenotypic heterogeneity, nonspecific symptoms, and the limited scope of current targeted biochemical assays ...
Jonathan Martens, Udo F. H. Engelke, Ron A. Wevers, Dirk J. Lefeber, Purva Kulkarni   +4 more
wiley   +1 more source

Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis

Molecular Genetics and Metabolism, 2016
Neuronal ceroid lipofuscinoses (NCLs) are a heterogeneous group of lysosomal storage disorders. NCLs include the rare autosomal recessive neurodegenerative disorder neuronal ceroid lipofuscinosis type 2 (CLN2) disease, caused by mutations in the tripeptidyl peptidase 1 (TPP1)/CLN2 gene and the resulting TPP1 enzyme deficiency.
Fietz, Michael, AlSayed, Moeenaldeen, Burke, Derek, Cohen-Pfeffer, Jessica, Cooper, Jonathan D., Dvořáková, Lenka, Giugliani, Roberto, Izzo, Emanuela, Jahnová, Helena, Lukacs, Zoltan, Mole, Sara E., de Halac, Ines Noher, Pearce, David A., Poupetova, Helena, Schulz, Angela, Specchio, Nicola, Xin, Winnie, Miller, Nicole   +17 more
openaire   +4 more sources