Biology Reference
In-Depth Information
Table 5.1. Proteins Needed for Axon Survival: Loss-of-Function or Dominant Negative Mutations Causing Axon Degeneration
Protein
Context
Phenotype
Reference
Axonal transport/vesicle trafficking
Alsin
Human disorder, null mouse
ALS/HSP
Deng et al. (2007), Yamanaka et al. (2006)
Atlastin
Human disorder
Hereditary spastic paraplegia
Meijer et al. (2007)
Bpag1
Null mouse
Rapid axon degeneration
Guo et al. (1995)
Dynein
Mouse missense mutations
Motor/sensory axon loss
Hafezparast et al. (2003), Ilieva et al. (2008)
Huntingtin
Conditional null mouse, null fly
Progressive axon/synapse loss
Dragatsis et al. (2000)
Jnk1
Null mouse
Spinal cord axon degeneration
Chang et al. (2003)
Kif1b beta
Heterozygous null mouse
Peripheral neuropathy
Zhao et al. (2001)
Kif5a
Human disorder, null mouse
Hereditary spastic paraplegia
Reid et al. (2002), Xia et al. (2003)
Maspardin
Human disorder
Hereditary spastic paraplegia
Simpson et al. (2003)
p150
Glued
Human disorder, Tg mouse
Motor neuron disease
Laird et al. (2008), Puls et al. (2003)
Spartin
Human disorder
Hereditary spastic paraplegia
Patel et al. (2002)
Spastin
Human disorder, null mouse
CNS axonopathy
Tarrade
et al.
(2006)
Spastizin
Human disorder
Hereditary spastic paraplegia
Hanein
et al.
(2008)
Tbce
Mouse missense mutation
Early motor neuron disease
Martin
et al.
(2002)
Vps54
Mouse missense and gene trap
Motor neuron disease
Schmitt-John
et al.
(2005)
Cholesterol and other lipid metabolisms
Cyp7b1
Human disorder
Hereditary spastic paraplegia
Tsaousidou
et al.
(2008)
iPla2
Human disorder, null mouse
Neuroaxonal dystrophy
Shinzawa
et al.
(2008)
Npc1
Human disorder, null mouse
Axon swelling, lysosome defect
Pacheco
et al.
(2009)
Nte
Human toxicity, null mouse
Dying back axonopathy
Read
et al.
(2009)
Sap
Null mouse
Axonal spheroids
Oya
et al.
(1998)
Protein synthesis
GARS
Human disorder
Peripheral neuropathy
Antonellis
et al.
(2006)
Smn
Human, null mouse, zebrafish MO
Motor neuron disease
Carrel
et al.
(2006), Cifuentes-Diaz
et al.
(2002)
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