Results 81 to 90 of about 1,820 (150)

The ALDH7A1 genetic polymorphisms contribute to development of esophageal squamous cell carcinoma

Tumor Biology, 2014
Although the entire etiology of esophageal squamous cell carcinoma (ESCC) is still unclear, alcohol drinking has been identified as a major environmental risk factor. The aldehyde dehydrogenase (ALDH) superfamily members are major enzymes involved in the alcohol-metabolizing pathways.
Haiyong, Wang, Lei, Tong, Jinyu, Wei, Wenting, Pan, Lichao, Li, Yunxia, Ge, Liqing, Zhou, Qipeng, Yuan, Changchun, Zhou, Ming, Yang   +9 more
openaire   +2 more sources

Engineered Multifunctional Hydrogel Delivering Novel CBX7 Inhibitor Modulates Cuproptosis Via Liquid–Liquid Phase Separation to Restore Cardiac Function in Aged Myocardial Infarction

Advanced Science, Volume 13, Issue 1, 5 January 2026.
An age‐adapted therapy pairs δ‐Amyrenone, a CBX7 inhibitor, with an alginate hydrogel (CSAδ) to rescue infarcted elderly hearts. CSAδ disrupts CBX7–ATP7A liquid–liquid phase separation, restores ATP7A trafficking and copper efflux, suppresses cuproptosis, supplies oxygen, scavenges ROS, promotes M2 polarization, supports angiogenesis, and enhances ...
Jun Liu, Peng Qu, Jiao Shi, Tingting Liang, Yao Gu, Xue Li, Cui Ma, Danyang Zhao, Feila Liu, Qi Liang, Panke Cheng, Qian Lei   +11 more
wiley   +1 more source

Complementary Muscle Metabolomics and Proteomics of Muscle in Cows With Post‐Calving Ketosis

Journal of Veterinary Internal Medicine, Volume 39, Issue 6, November/December 2025.
ABSTRACT Background The muscle tissue of dairy cows is a site of β‐hydroxybutyrate (BHBA) metabolism. The mechanisms underlying the changes in proteins and metabolites in the muscle tissue of cows with ketosis remain unclear. Objectives To elucidate the metabolic and physiological molecular adaptation mechanisms in the muscle tissue of cows with ...
Tao Tang, Jing Zhou, Jiahao Shao, Meigui Wang, Siqi Xia, Wenqiang Sun, Xianbo Jia, Jie Wang, Songjia Lai   +8 more
wiley   +1 more source

Seizures and electroencephalographic findings in inborn errors of metabolism: Clues to differential diagnosis in the neonatal period, infancy, childhood and adolescence, and review of the literature

Epileptic Disorders, Volume 27, Issue 5, Page 745-802, October 2025.
Abstract Although inborn errors of metabolism (IEM) are a rare cause of epilepsy, seizures are a common presentation in these disorders. Seizures in IEM are frequently refractory to conventional anti‐seizure medication and might warrant initiation of specific treatments based on vitamins or dietary modifications or provision of alternative substrates ...
D. Kapoor, S. Sharma, A. Kaminska, R. Nabbout, N. Chemaly, M. Schiff, P. De Lonlay, M. Eisermann   +7 more
wiley   +1 more source

ARC‐18 Improved Motor Performance Through Inhibiting ACLY‐Mediated Smad2/3 Acetylation in a Model of Duchenne Muscular Dystrophy

Journal of Cachexia, Sarcopenia and Muscle, Volume 16, Issue 5, October 2025.
ABSTRACT Background Duchenne muscular dystrophy (DMD) is a genetic disorder characterized by progressive muscle weakness, with inflammation and fibrosis contributing to its pathogenesis. Despite advancements in genetic disease‐modifying treatment, there is currently no effective pharmacological treatment for DMD.
Chongyang Chen, Bingge Zhang, Chao Yang, Jing Wang, Ye He, Haitao Yu, Jianjun Liu, Yongmei Xie, Xifei Yang, Gong‐Ping Liu   +9 more
wiley   +1 more source

Effectiveness of Pyridoxal‐5′‐Phosphate in PNPO Deficiency: A Systematic Review

Journal of Inherited Metabolic Disease, Volume 48, Issue 5, September 2025.
ABSTRACT Pyridox(am)ine 5′‐phosphate oxidase (PNPO) deficiency is an ultrarare inherited neurometabolic disease, characterized by primarily neonatal‐onset B6‐responsive epileptic encephalopathies. Treatment often requires sustainable access to high‐quality pyridoxal‐5′‐phosphate (PLP, i.e., active vitamin B6), although some patients (also) respond to ...
Nina N. Stolwijk, Laura van Dussen, Niels D. Reijnhout, Marion M. M. G. Brands, Bregje Jaeger, Peter T. Clayton, Carla E. M. Hollak, Annet M. Bosch   +7 more
wiley   +1 more source

Genetic etiologies with a large NGS panel in a monocentric cohort of 1000 patients with pediatric onset epilepsies

Epilepsia Open, Volume 10, Issue 4, Page 1065-1073, August 2025.
Abstract Objective Genetic testing is now included in the diagnostic assessment of childhood onset epilepsies. We evaluated the yield of a targeted next generation sequencing (TNGS) panel dedicated to pediatric epilepsies. Methods We tested by TNGS panel 1000 consecutive patients presenting with childhood onset epilepsies and including mainly patients ...
Giulia Barcia, Nicole Chemaly, Stéphanie Gobin‐Limballe, Emma Losito, Mélodie Aubart, Eugénie Sarda, Zahra Assouline, Pauline Plante‐Bordeneuve, Marie Hully, Remi Barrois, Christine Barnerias, Doxa Sareidaki, Delphine Coste Zeitoun, Monika Eisermann, Cécile Fourrage, Sylvain Hanein, Marlène Rio, Nathalie Boddaert, Isabelle Desguerre, Anna Kaminska, Julie Steffann, Rima Nabbout   +21 more
wiley   +1 more source

Aetiopathogenesis of infantile epileptic spasms syndrome and mechanisms of action of adrenocorticotrophin hormone/corticosteroids in children: A scoping review

Developmental Medicine &Child Neurology, Volume 67, Issue 8, Page 1004-1025, August 2025.
Why does infantile epileptic spasms syndrome (IESS) occur with a variety of underlying conditions and why does it respond to adrenocorticotrophin hormone (ACTH)/corticosteroids? Our scoping review summarizes five hypotheses from the literature: gene/epigenetic regulation, stress/HPA axis activation, neuroinflammation/immune function, altered neuronal ...
Emily A. Innes, Velda X. Han, Shrujna Patel, Michelle A. Farrar, Deepak Gill, Shekeeb S. Mohammad, Russell C. Dale   +6 more
wiley   +1 more source

Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutation

Molecular Genetics and Metabolism Reports, 2016
We report a patient with anti-epileptic treatment refractory neonatal seizures responsive to pyridoxine. Biochemical analysis revealed normal markers for antiquitin deficiency and also mutation analysis of the ALDH7A1 (Antiquitin) gene was negative ...
B. Jaeger, N.G. Abeling, G.S. Salomons, E.A. Struys, M. Simas-Mendes, V.G. Geukers, B.T. Poll-The   +6 more
doaj   +1 more source

The Clinical and Genetic Landscape of a French Multicenter Cohort of 2563 Epilepsy Patients Referred for Genetic Diagnosis

European Journal of Neurology, Volume 32, Issue 8, August 2025.
This cohort of 2563 patients is one of the largest published epilepsy genetic studies, achieved in a clinical routine setup. The anonymized clinical and genetic information are provided as a resource for future research. Detailed per‐syndrome and per‐gene analysis have been performed. ABSTRACT Background Epileptic disorders are a heterogeneous group of
Jean‐Madeleine de Sainte Agathe, Pauline Monin, Florence Riccardi, Caroline Nava, Lionel Arnaud, Cyril Mignot, Dorothée Ville, Stéphane Auvin, Sandrine Tardieu, Kathy Larcher, Isabelle Gourfinkel‐An, Mathilde Canon, Vincent Navarro, Bénédicte Héron, Sophie Julia, Diane Doummar, Marie‐Line Jacquemont, Hélène Maurey, Blandine Dozières‐Puyravel, Laurence Perrin, Laurent Pasquier, Christèle Dubourg, Sylvie Odent, Abdelhakim Bouazzaoui, Wilfrid Carre, Mélanie Fradin, Florence Demurger, Nicolas Chatron, Damien Sanlaville, Miriam Essid, Vincent des Portes, Eleni Panagiotakaki, Anne‐Lise Poulat, Clotilde Rivier, Catherine Sarret, Ganaëlle Remerand, Cecilia Altuzarra, Radka Stoeva, Sylvie Nguyen, Juliette Piard, Élise Boucher, Vincent Flurin, Anne‐Marie Guerrot, Sylvie Joriot, Béatrice Desnous, Nathalie Villeneuve, Anne Lépine, Caroline Hachon‐Le Camus, Laurent Villard, Marie Faoucher, Mathieu Milh, Gaëtan Lesca, Éric Leguern   +52 more
wiley   +1 more source