The systemic complexity of a monogenic disease: the molecular network of spinal muscular atrophy

Monogenic diseases are well-suited paradigms for the causal analysis of disease-driving molecular patterns. Spinal muscular atrophy (SMA) is one such monogenic model, caused by mutation or deletion of the survival of motor neuron 1 (SMN1) gene. Although several functions of the SMN protein have been...

Ausführliche Beschreibung

Bibliographische Detailangaben

Veröffentlicht in:	Brain (London, England : 1878) England : 1878), 2025-02, Vol.148 (2), p.580-596
Hauptverfasser:	Tapken, Ines, Schweitzer, Theresa, Paganin, Martina, Schüning, Tobias, Detering, Nora T, Sharma, Gaurav, Niesert, Moritz, Saffari, Afshin, Kuhn, Daniela, Glynn, Amy, Cieri, Federica, Santonicola, Pamela, Cannet, Claire, Gerstner, Florian, Faller, Kiterie M E, Huang, Yu-Ting, Kothary, Rashmi, Gillingwater, Thomas H, Di Schiavi, Elia, Simon, Christian M, Hensel, Niko, Ziegler, Andreas, Viero, Gabriella, Pich, Andreas, Claus, Peter
Format:	Artikel
Sprache:	eng
Schlagworte:	Animals Disease Models, Animal Humans Mice Muscular Atrophy, Spinal - genetics Mutation Proteomics - methods Survival of Motor Neuron 1 Protein - genetics Survival of Motor Neuron 1 Protein - metabolism
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!