Mutations in the Small GTP-ase Late Endosomal Protein RAB7 Cause Charcot-Marie-Tooth Type 2B Neuropathy
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- 1 March 2003
- journal article
- research article
- Published by Elsevier in American Journal of Human Genetics
- Vol. 72 (3), 722-727
- https://doi.org/10.1086/367847
Abstract
No abstract availableKeywords
This publication has 21 references indexed in Scilit:
- Autosomal Dominant Inherited Neuropathies With Prominent Sensory Loss and MutilationsArchives of Neurology, 2003
- Rab proteins mediate Golgi transport of caveola-internalized glycosphingolipids and correct lipid trafficking in Niemann-Pick C cellsJournal of Clinical Investigation, 2002
- Rab proteins mediate Golgi transport of caveola-internalized glycosphingolipids and correct lipid trafficking in Niemann-Pick C cellsJournal of Clinical Investigation, 2002
- Late endosome motility depends on lipids via the small GTPase Rab7The EMBO Journal, 2002
- A family with autosomal dominant mutilating neuropathy not linked to either Charcot–Marie–Tooth disease type 2B (CMT2B) or hereditary sensory neuropathy type I (HSN I) lociNeuromuscular Disorders, 2002
- Rab GTPases, intracellular traffic and diseaseTrends in Molecular Medicine, 2002
- Protein trafficking mechanisms associated with neurite outgrowth and polarized sorting in neuronsJournal of Neurochemistry, 2001
- The Rab7 effector protein RILP controls lysosomal transport by inducing the recruitment of dynein-dynactin motorsCurrent Biology, 2001
- Rab-interacting lysosomal protein (RILP): the Rab7 effector required for transport to lysosomesThe EMBO Journal, 2001
- Mutilating neuropathic ulcerations in a chromosome 3q13-q22 linked Charcot-Marie-Tooth disease type 2B family.Journal of Neurology, Neurosurgery & Psychiatry, 1997