Unraveling neuronal and metabolic alterations in neurofibromatosis type 1 / Valentina BOTERO in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : Unraveling neuronal and metabolic alterations in neurofibromatosis type 1 Type de document : texte imprimé Auteurs : Valentina BOTERO, Auteur ; Seth M. TOMCHIK, Auteur Langues : Anglais (eng) Mots-clés : Neurofibromatosis 1/metabolism/physiopathology/complications  Humans  Neurons/metabolism  Brain/metabolism/physiopathology  Animals  Metabolism  Nf1  Neurofibromatosis type 1  Neurofibromin Index. décimale : PER Périodiques Résumé : Neurofibromatosis type 1 (OMIM 162200) affects ~ 1 in 3,000 individuals worldwide and is one of the most common monogenetic neurogenetic disorders that impacts brain function. The disorder affects various organ systems, including the central nervous system, resulting in a spectrum of clinical manifestations. Significant progress has been made in understanding the disorder's pathophysiology, yet gaps persist in understanding how the complex signaling and systemic interactions affect the disorder. Two features of the disorder are alterations in neuronal function and metabolism, and emerging evidence suggests a potential relationship between them. This review summarizes neurofibromatosis type 1 features and recent research findings on disease mechanisms, with an emphasis on neuronal and metabolic features. En ligne : https://dx.doi.org/10.1186/s11689-024-09565-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Unraveling neuronal and metabolic alterations in neurofibromatosis type 1 [texte imprimé] / Valentina BOTERO, Auteur ; Seth M. TOMCHIK, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Neurofibromatosis 1/metabolism/physiopathology/complications  Humans  Neurons/metabolism  Brain/metabolism/physiopathology  Animals  Metabolism  Nf1  Neurofibromatosis type 1  Neurofibromin Index. décimale : PER Périodiques Résumé : Neurofibromatosis type 1 (OMIM 162200) affects ~ 1 in 3,000 individuals worldwide and is one of the most common monogenetic neurogenetic disorders that impacts brain function. The disorder affects various organ systems, including the central nervous system, resulting in a spectrum of clinical manifestations. Significant progress has been made in understanding the disorder's pathophysiology, yet gaps persist in understanding how the complex signaling and systemic interactions affect the disorder. Two features of the disorder are alterations in neuronal function and metabolism, and emerging evidence suggests a potential relationship between them. This review summarizes neurofibromatosis type 1 features and recent research findings on disease mechanisms, with an emphasis on neuronal and metabolic features. En ligne : https://dx.doi.org/10.1186/s11689-024-09565-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

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