The Role of HSP70 and Its Co-chaperones in Protein Misfolding, Aggregation and Disease - The Networking of Chaperones by Co-chaperones - page 254

Table 12.1 (continued)

Protein Disease Main phenotypic

features

Chaperone system Function/putative

function

References

Muscle atrophy Role in cell cycle regula-

tion and malignancies
such as breast cancer and
melanoma

Sarparanta et al. ( 2012 )

Sato et al. ( 2013 )
Couthouis et al. ( 2014 )

Sacsin/SACS Spastic Ataxia of

Charlevoix-Saguenay
(ARSACS/SACS)

Motor neuropathy Putative DnaJ domain

and Hsp90 homology

Possible Hsp70
co-chaperone

Engert et al. ( 2000 )

Sensory neuropathy Role in mitochondrial

dynamics

Vermeer et al. ( 2008 )

Retinal
hypermyelination

Bouhlal et al. ( 2011 )

Pyle et al. ( 2012 )
Girard et al. ( 2012 )

Aryl hydrocarbon
receptor interact-
ing protein-like 1
(AIPL1)

Leber congenital
amaurosis

Early-onset, severe
retinal degeneration

Hsp90 TPR co-chaper-
one, also able to interact
with Hsp70

Chaperone for the post-
translational stability of
the catalytic subunit and
assembly of photorecep-
tor phosphodiesterase
(PDE)

Sohocki et al. ( 2000 )

Hidalgo-de-Quintana
et al. ( 2008 )
Kolandaivelu et al.
( 2009 )