Biology Reference
In-Depth Information
Table 5.1. (
Continued
)
Protein
Context
Phenotype
Reference
Degradation pathways
Atg7
Conditional null mouse
Axon swelling, loss of terminals
Komatsu et al. (2007)
Gigaxonin
Human disorder, null mouse
Giant axonal neuropathy
Allen et al. (2005), Bomont et al. (2000)
Trim2
Mouse gene trap
Axon swelling
Balastik et al. (2008)
Ube4b
Heterozygous null mouse
Gracile axonal dystrophy
Kaneko-Oshikawa et al. (2005)
Uch-l1
Mouse intragenic deletion
Gracile axonal dystrophy
Saigoh et al. (1999)
Adhesion
5 integrin
Conditional null mouse
CNS axon degeneration
McCarty
et al.
(2005)
Ankyrin
B
Null mouse
Optic nerve degeneration
Scotland
et al.
(1998)
Galgt1
Null mouse
CNS, PNS axon degeneration
Pan
et al.
(2005)
L1-Cam
Null mouse
Unmyelinated sensory axon loss
Haney
et al.
(1999)
Moca
Null mouse
CNS axonal dystrophy
Chen
et al.
(2009)
SLC33A1
Human disorder
Hereditary spastic paraplegia
Lin
et al.
(2008)
Mitochondria
Gdap1
Human disorder
Charcot-Marie-Tooth Type 4A
Pedrola
et al.
(2008)
Hsp60
Human disorder
Hereditary spastic paraplegia
Bross
et al.
(2008)
Paraplegin
Human disorder, null mouse
Hereditary spastic paraplegia
Gelbard (2004)
Reep1
Human disorder
Hereditary spastic paraplegia
Beetz
et al.
(2008)
Other
-Spectrin
C. elegans Unc-70 mutants
Axons break
Hammarlund et al. (2007)
Grk5
Null mouse
CNS axonal swelling
Suo et al. (2007)
The table lists proteins with a likely axonal or axonal delivery role, whose genomic loss-of-function or dominant negative mutation results in axon
degeneration. Defects that are clearly developmental have been excluded to focus on the maintenance of mature axons. Functional categories should be
viewed only as a guide, as proteins may have multiple functions or their functions may not yet be fully characterized.
