Gene dosage-dependent rescue of HSP neurite defects in SPG4 patients’ neurons

The hereditary spastic paraplegias (HSPs) are a heterogeneous group of motorneuron diseases characterized by progressive spasticity and paresis of the lower limbs. Mutations in Spastic Gait 4 (SPG4), encoding spastin, are the most frequent cause of HSP. To understand how mutations in SPG4 affect hum...

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Hlavní autoři: Havlicek, Steven, Kohl, Zacharias, Mishra, Himanshu K., Prots, Iryna, Eberhardt, Esther, Denguir, Naime, Wend, Holger, Plötz, Sonja, Boyer, Leah, Marchetto, Maria C.N., Aigner, Stefan, Sticht, Heinrich, Groemer, Teja W., Hehr, Ute, Lampert, Angelika, Schlötzer-Schrehardt, Ursula, Winkler, Jürgen, Gage, Fred H., Winner, Beate
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2014
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3990156/
https://ncbi.nlm.nih.gov/pubmed/24381312
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddt644
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