Spastin Binds to Lipid Droplets and Affects Lipid Metabolism: e1005149

Mutations in SPAST, encoding spastin, are the most common cause of autosomal dominant hereditary spastic paraplegia (HSP). HSP is characterized by weakness and spasticity of the lower limbs, owing to progressive retrograde degeneration of the long corticospinal axons. Spastin is a conserved microtub...

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Veröffentlicht in:	PLoS genetics 2015-04, Vol.11 (4)
Hauptverfasser:	Papadopoulos, Chrisovalantis, Orso, Genny, Mancuso, Giuseppe, Herholz, Marija, Gumeni, Sentiljana, Tadepalle, Nimesha, Jüngst, Christian, Tzschichholz, Anne, Schauss, Astrid, Höning, Stefan, Trifunovic, Aleksandra, Daga, Andrea, Rugarli, Elena I
Format:	Artikel
Sprache:	eng
Schlagworte:	Amino acids Drosophila Endoplasmic reticulum Experiments Insects Lipids Metabolism Mutation Nervous system Paralysis Pathogenesis Proteins
Online-Zugang:	Volltext
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