Mutations in the SPG3A gene encoding the GTPase atlastin interfere with vesicle trafficking in the ER/Golgi interface and Golgi morphogenesis
M Namekawa, MP Muriel, A Janer, M Latouche… - Molecular and Cellular …, 2007 - Elsevier
Mutations in SPG3A causing autosomal dominant pure spastic paraplegia led to
identification of atlastin, a new dynamin-like large GTPase. Atlastin is localized in the
endoplasmic reticulum, the Golgi, neurites and growth cones and has been implicated in
neurite outgrowth. To investigate whether it exerts its activity in the early secretory system,
we expressed normal and mutant atlastin in cell culture. Pathogenic mutations in the
GTPase domain interfered with the maturation of Golgi complexes by preventing the …
identification of atlastin, a new dynamin-like large GTPase. Atlastin is localized in the
endoplasmic reticulum, the Golgi, neurites and growth cones and has been implicated in
neurite outgrowth. To investigate whether it exerts its activity in the early secretory system,
we expressed normal and mutant atlastin in cell culture. Pathogenic mutations in the
GTPase domain interfered with the maturation of Golgi complexes by preventing the …