Ben Othmane K et al. (1993) Localization of a gene (CMT2A) for autosomal dominant Charcot–Marie–Tooth disease type 2 to chromosome 1p and evidence of genetic heterogeneity. Genomics17: 1–6 Article Google Scholar
Züchner S et al. (2004) Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot–Marie–Tooth neuropathy type 2A. Nat Genet36: 449–451 Article Google Scholar
Lawson VH et al. (2005) Clinical and electrophysiologic features of CMT2A with mutations in the mitofusin 2 gene. Neurology65: 197–204 ArticleCAS Google Scholar
Harding AE and Thomas PK (1980) Genetic aspects of hereditary motor and sensory neuropathy (types I and II). J Med Genet17: 329–336 ArticleCAS Google Scholar
Zhu D et al. (2005) CMT with pyramidal signs is genetically heterogenous: families with and without MFN2 mutations. Neurology65: 496–497 ArticleCAS Google Scholar
Rojo M et al. (2002) Membrane topology and mitochondrial targeting of mitofusins, ubiquitous mammalian homologs of the transmembrane GTPase Fzo. J Cell Sci115: 1663–1674 CASPubMed Google Scholar
Chen H and Chan DC (2004) Mitochondrial dynamics in mammals. Curr Top Dev Biol59: 119–144 ArticleCAS Google Scholar
Nunnari J et al. (1997) Mitochondrial transmission during mating in Saccharomyces cerevisiae is determined by mitochondrial fusion and fission and the intramitochondrial segregation of mitochondrial DNA. Mol Biol Cell8: 1233–1242 ArticleCAS Google Scholar
Bossy-Wetzel E et al. (2003) Mitochondrial fission in apoptosis, neurodegeneration and aging. Curr Opin Cell Biol15: 706–716 ArticleCAS Google Scholar
Koshiba T et al. (2004) Structural basis of mitochondrial tethering by mitofusin complexes. Science305: 858–862 ArticleCAS Google Scholar
Santel A and Fuller MT (2001) Control of mitochondrial morphology by a human mitofusin. J Cell Sci114: 867–874 CASPubMed Google Scholar
Pich S et al. (2005) The Charcot–Marie–Tooth type 2A gene product, Mfn2, up-regulates fuel oxidation through expression of OXPHOS system. Hum Mol Genet14: 1405–1415 ArticleCAS Google Scholar
Irobi J et al. (2004) Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy. Nat Genet36: 597–601 ArticleCAS Google Scholar
Evgrafov OV et al. (2004) Mutant small heat-shock protein 27 causes axonal Charcot–Marie–Tooth disease and distal hereditary motor neuropathy. Nat Genet36: 602–606 ArticleCAS Google Scholar
Tang BS et al. (2004) A new locus for autosomal dominant Charcot–Marie–Tooth disease type 2 (CMT2L) maps to chromosome 12q24. Hum Genet114: 527–533 ArticleCAS Google Scholar
Ganea E (2001) Chaperone-like activity of alpha-crystallin and other small heat shock proteins. Curr Protein Pept Sci2: 205–225 ArticleCAS Google Scholar
Kappe G et al. (2003) The human genome encodes 10 alpha-crystallin-related small heat shock proteins: HspB1-10. Cell Stress Chaperones8: 53–61 ArticleCAS Google Scholar
Mehlen P et al. (1995) Constitutive expression of human hsp27, Drosophila hsp27, or human alpha B-crystallin confers resistance to TNF- and oxidative stress-induced cytotoxicity in stably transfected murine L929 fibroblasts. J Immunol154: 363–374 CASPubMed Google Scholar
Carra S et al. (2005) HspB8, a small heat shock protein mutated in human neuromuscular disorders, has in vivo chaperone activity in cultured cells. Hum Mol Genet14: 1659–1669 ArticleCAS Google Scholar
Preville X et al. (1999) Mammalian small stress proteins protect against oxidative stress through their ability to increase glucose-6-phosphate dehydrogenase activity and by maintaining optimal cellular detoxifying machinery. Exp Cell Res247: 61–78 ArticleCAS Google Scholar
Baxter RV et al. (2001) Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot–Marie–Tooth disease type 4A/8q21. Nat Genet30: 21–22 Article Google Scholar
Cuesta A et al. (2002) The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot–Marie–Tooth type 4A disease. Nat Genet30: 22–25 ArticleCAS Google Scholar
Baxter RV et al. (2002) Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot–Marie–Tooth disease type 4A/8q21. Nat Genet30: 21–22 ArticleCAS Google Scholar
Nelis E et al. (2002) Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy. Neurology59: 1865–1872 ArticleCAS Google Scholar
Senderek J et al. (2003) Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot–Marie–Tooth neuropathy. Brain126: 642–649 Article Google Scholar
Marco A et al. (2003) Evolutionary and structural analyses of GDAP1, involved in Charcot–Marie–Tooth disease, characterize a novel class of glutathione transferase-related genes. Mol Biol Evol21: 176–187 Article Google Scholar
Pedrola L et al. (2005) GDAP1, the protein causing Charcot–Marie–Tooth disease type 4A, is expressed in neurons and is associated with mitochondria. Hum Mol Genet14: 1087–1094 ArticleCAS Google Scholar
Stojkovic T et al. (2004) Vocal cord and diaphragm paralysis, as clinical features of a French family with autosomal recessive Charcot–Marie–Tooth disease, associated with a new mutation in the GDAP1 gene. Neuromuscul Disord14: 261–264 Article Google Scholar
Claramunt R et al. (2005) Genetics of Charcot–Marie–Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect. J Med Genet42: 358–365 ArticleCAS Google Scholar
Ferri A et al. (2003) Inhibiting axon degeneration and synapse loss attenuates apoptosis and disease progression in a mouse model of motoneuron disease. Curr Biol13: 669–673 ArticleCAS Google Scholar
Mersiyanova IV et al. (2000) A new variant of Charcot–Marie–Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene. Am J Hum Genet67: 37–46 ArticleCAS Google Scholar
Jordanova A et al. (2003) Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot–Marie–Tooth disease. Brain126: 590–597 ArticleCAS Google Scholar
Züchner S et al. (2004) The novel neurofilament light (NEFL) mutation Glu397Lys is associated with a clinically and morphologically heterogeneous type of Charcot–Marie–Tooth neuropathy. Neuromuscul Disord14: 147–157 Article Google Scholar
Pérez-Ollé R et al. (2005) Mutations in the neurofilament light gene linked to Charcot-Marie-Tooth disease cause defects in transport. J Neurochem93: 861–874 Article Google Scholar
Zhao C et al. (2001) Charcot–Marie–Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta. Cell105: 587–597 ArticleCAS Google Scholar
Verhoeven K et al. (2003) Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot–Marie–Tooth type 2B neuropathy. Am J Hum Genet72: 722–727 ArticleCAS Google Scholar
Auer-Grumbach M (2004) Hereditary sensory neuropathies. Drugs Today (Barc)40: 385–394 ArticleCAS Google Scholar
Houlden H et al. (2004) A novel RAB7 mutation associated with ulcero-mutilating neuropathy 1. Ann Neurol56: 586–590 ArticleCAS Google Scholar
Bottger G et al. (1996) Rab4 and Rab7 define distinct nonoverlapping endosomal compartments. J Biol Chem271: 29191–29197 ArticleCAS Google Scholar
Meresse S et al. (1995) The rab7 GTPase resides on a vesicular compartment connected to lysosomes. J Cell Sci108: 3349–3358 CASPubMed Google Scholar
Feng Y et al. (1995) Rab 7: an important regulator of late endocytic membrane traffic. J Cell Biol131: 1435–1452 ArticleCAS Google Scholar
Züchner S et al. (2005) Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot–Marie–Tooth disease. Nat Genet37: 289–294 Article Google Scholar
Hinshaw JE (2000) Dynamin and its role in membrane fission. Annu Rev Cell Dev Biol16: 483–519 ArticleCAS Google Scholar
Schafer DA et al. (2002) Dynamin2 and cortactin regulate actin assembly and filament organization. Curr Biol12: 1852–1857 ArticleCAS Google Scholar
Thompson HM et al. (2004) Dynamin 2 binds gamma-tubulin and participates in centrosome cohesion. Nat Cell Biol6: 335–342 ArticleCAS Google Scholar
Antonellis A et al. (2003) Glycyl tRNA synthetase mutations in Charcot–Marie–Tooth disease type 2D and distal spinal muscular atrophy type V. Am J Hum Genet72: 1293–1299 ArticleCAS Google Scholar
Shiba K et al. (1994) Human glycyl-tRNA synthetase: wide divergence of primary structure from bacterial counterpart and species-specific aminoacylation. J Biol Chem269: 30049–30055 CASPubMed Google Scholar
Shy ME et al. (2004) Phenotypic clustering in MPZ mutations. Brain127: 371–384 Article Google Scholar
Hattori N et al. (2003) Demyelinating and axonal features of Charcot–Marie–Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients. Brain126: 134–151 Article Google Scholar
Street VA et al. (2003) Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot–Marie–Tooth disease 1C. Neurology60: 22–26 ArticleCAS Google Scholar
Saifi GM et al. (2005) SIMPLE mutations in Charcot–Marie–Tooth disease and the potential role of its protein product in protein degradation. Hum Mutat25: 372–383 ArticleCAS Google Scholar
Sandre-Giovannoli A et al. (2002) Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot–Marie–Tooth disorder type 2) and mouse. Am J Hum Genet70: 726–736 Article Google Scholar
Chaouch M et al. (2003) The phenotypic manifestations of autosomal recessive axonal Charcot–Marie–Tooth due to a mutation in Lamin A/C gene. Neuromuscul Disord13: 60–67 ArticleCAS Google Scholar
Gruenbaum Y et al. (2005) The nuclear lamina comes of age. Nat Rev Mol Cell Biol6: 21–31 ArticleCAS Google Scholar
Maraldi NM et al. (2005) Laminopathies: involvement of structural nuclear proteins in the pathogenesis of an increasing number of human diseases. J Cell Physiol203: 319–327 ArticleCAS Google Scholar
Harding AE and Thomas PK (1980) The clinical features of hereditary motor and sensory neuropathy types I and II. Brain103: 259–280 ArticleCAS Google Scholar
Vance JM (2000) The many faces of Charcot–Marie–Tooth disease. Arch Neurol57: 638–64055 ArticleCAS Google Scholar