The Role of HSP70 and Its Co-chaperones in Protein Misfolding, Aggregation and Disease - The Networking of Chaperones by Co-chaperones - page 255

Table 12.1 (continued)

Protein Disease Main phenotypic

features

Chaperone system Function/putative

function

References

αA-Crystallin/ Congenital cataracts Cataracts Small heat shock protein Lens protein biogenesis

and protection from
damage

Litt et al. ( 1998 )

HSBP4 Mackay et al. ( 2003 )

αB-Crystallin/ Desmin Related myopa-

thy and Congenital
cataracts

Skeletal myopathy Small heat shock protein Chaperone for the

assembly of desmin
filaments

Vicart et al. ( 1998 )

HSPB5 Cardiomyopathy Lens protein biogenesis

and protection from
damage

Cataracts

Hsp27/HSPB1 Charcot-Marie-Tooth

disease

Weakness Small heat shock protein Oligomeric complex

formation with other
sHSP, thus mutations
lead to the formation
of cytotoxic amyloid
protein oligomers and
precipitates

Evgrafov et al. ( 2004 )

Distal hereditary motor
neuropathy (dHMNIIb)

Limb muscle atrophy Abnormally organized

intermediate filaments
and disrupted microtu-
bule dynamics

Tang et al. ( 2005a )

Disruption of cytoskel-
etal networks

Kijima et al. ( 2005 )

Increased downstream
enzymatic activities

Houlden et al. ( 2008 )