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BIOCHEMICAL SOCIETY TRANSACTIONS (2008)
Rab5 modulates aggregation and toxicity of mutant huntingtin through macroautophagy in cell and fly models of Huntington disease
Brinda Ravikumar et al.
JOURNAL OF CELL SCIENCE (2008)
Functional multivesicular bodies are required for autophagic clearance of protein aggregates associated with neurodegenerative disease
Maria Filimonenko et al.
JOURNAL OF CELL BIOLOGY (2007)
Autophagosome formation: Core machinery and adaptations
Zhiping Xie et al.
NATURE CELL BIOLOGY (2007)
Mutations in the SPG3A gene encoding the GTPase atlastin interfere with vesicle trafficking in the ER/Golgi interface and Golgi morphogenesis
M. Namekawa et al.
MOLECULAR AND CELLULAR NEUROSCIENCE (2007)
Troyer syndrome protein spartin is mono-ubiquitinated and functions in EGF receptor trafficking
Joanna C. Bakowska et al.
MOLECULAR BIOLOGY OF THE CELL (2007)
Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum
Giovanni Stevanin et al.
NATURE GENETICS (2007)
Drosophila spichthyin inhibits BMP signaling and regulates synaptic growth and axonal microtubules
Xinnan Wang et al.
NATURE NEUROSCIENCE (2007)
Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia
Paul N. Valdmanis et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
A mutation of spastin is responsible for swellings and impairment of transport in a region of axon characterized by changes in microtubule composition
Anne Tarrade et al.
HUMAN MOLECULAR GENETICS (2006)
ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B)
N. Parkinson et al.
NEUROLOGY (2006)
Endogenous spartin, mutated in hereditary spastic paraplegia, has a complex subcellular localization suggesting diverse roles in neurons
Dimitri Robay et al.
EXPERIMENTAL CELL RESEARCH (2006)
Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia
G Skibinski et al.
NATURE GENETICS (2005)
A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma
E Sprecher et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2005)
The hereditary spastic paraplegia protein spastin interacts with the ESCRT-III complex-associated endosomal protein CHMP1B
E Reid et al.
HUMAN MOLECULAR GENETICS (2005)
The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegia
FD Ciccarelli et al.
GENOMICS (2003)
Vps51p links the VFT complex to the SNARE Tlg1p
S Siniossoglou et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2002)
A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10)
E Reid et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2002)
SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia
H Patel et al.
NATURE GENETICS (2002)
KIF5C, a novel neuronal kinesin enriched in motor neurons
Y Kanai et al.
JOURNAL OF NEUROSCIENCE (2000)