Results 101 to 110 of about 3,183 (188)

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

Proteome analysis of human amniotic mesenchymal stem cells (hA-MSCs) reveals impaired antioxidant ability, cytoskeleton and metabolic functionality in maternal obesity. [PDF]

, 2016
Maternal obesity increases the risk of obesity and/or obesity-related diseases in the offspring of animal models. The aim of this study was to identify metabolic dysfunctions that could represent an enhanced risk for human obesity or obesity-related ...
Capobianco, V, Caterino, M, Del Vecchio, L, Iaffaldano, L, Martinelli, P, Nardelli, C, Pastore, L, Pucci, P, Sacchetti, L., Sirico, A   +9 more
core   +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

Prevalence of ALDH7A1 mutations in 18 North American pyridoxine‐dependent seizure (PDS) patients [PDF]

Epilepsia, 2009
SummaryPurpose:  Pyridoxine‐dependent seizure (PDS) is a rare disorder characterized by seizures that are resistant to common anticonvulsants, and that are ultimately controlled by daily pharmacologic doses of pyridoxine (vitamin B6). Mutations of the antiquitin gene (ALDH7A1) are now recognized as the molecular basis of cases of neonatal‐onset PDS ...
Bennett, Craig L., Chen, Yingzhang, Hahn, Sihoun, Glass, Ian A., Gospe Jr, Sidney M.   +4 more
openaire   +3 more sources

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

Deep sequencing of small RNAs identifies canonical and non-canonical miRNA and endogenous siRNAs in mammalian somatic tissues [PDF]

, 2012
MicroRNAs (miRNAs) are small RNA molecules that regulate gene expression. They are characterized by specific maturation processes defined by canonical and non-canonical biogenic pathways.
Ambros, Babiarz, Babiarz, Bartel, Berezikov, Berezikov, Cheloufi, Chen, Chiang, Cifuentes, Denli, Ender, Flynt, Friedlander, Gregory, Griffiths-Jones, Han, Justin Stebbing, Kaneko, Karimi, Kuhn, Ladewig, Leandro Castellano, Lee, Leung, Okamura, Okamura, Piriyapongsa, Poethig, Ruby, Smalheiser, Tam, Valen, Watanabe, Westholm, Yang, Yang   +36 more
core   +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

Early‐onset vitamin B6‐dependent epilepsy due to pathogenic PLPBP variants in a premature infant: A case report and review of the literature

JIMD Reports, 2021
Vitamin B6‐dependent epilepsies are a heterogeneous group of disorders characterized by decreased availability of the active cofactor pyridoxal‐5′‐phosphate (PLP).
Oliver Heath, James Pitt, Simone Mandelstam, Carl Kuschel, Anand Vasudevan, Sarah Donoghue   +5 more
doaj   +1 more source

Strain Differences in Developmental Vulnerability to Alcohol Exposure Via Embryo Culture in Mice [PDF]

, 2011
Background Prenatal alcohol exposure can result in varying degrees of neurodevelopmental deficits, growth retardation, and facial dysmorphology. Variation in these adverse outcomes not only depends on the dose and pattern of alcohol exposure but also on
Chen, Yuanyuan, Goodlett, Charles R., Ni, Lijun, Ozturk, Nail Can, Zhou, Feng C.   +4 more
core   +1 more source

Mitochondrial proteome landscape unveils key insights into melanoma severity and treatment strategies

Cancer, Volume 131, Issue 13, 1 July 2025.
This study uses comprehensive quantitative proteomics of 151 melanoma‐related samples to demonstrate that the upregulation of mitochondrial translation and oxidative phosphorylation is intricately linked to tumor aggressiveness, treatment resistance, and poor clinical outcomes.
Yonghyo Kim, Viktória Doma, Uğur Çakır, Magdalena Kuras, Lazaro Hiram Betancourt, Indira Pla, Aniel Sanchez, Yutaka Sugihara, Roger Appelqvist, Henriett Oskolas, Boram Lee, Jéssica Guedes, Gustavo Monnerat, Gabriel Reis Alves Carneiro, Fábio C. S. Nogueira, Gilberto B. Domont, Johan Malm, Bo Baldetorp, Elisabet Wieslander, István Balázs Németh, A. Marcell Szász, Runyu Hong, Krzysztof Pawłowski, Melinda Rezeli, Ho Jeong Kwon, Jozsef Timar, David Fenyö, Sarolta Kárpáti, György Marko‐Varga, Jeovanis Gil   +29 more
wiley   +1 more source