Desmin related disease: a matter of cell survival failure.

Abstract:

:Maintenance of the highly organized striated muscle tissue requires a cell-wide dynamic network that through interactions with all vital cell structures, provides an effective mechanochemical integrator of morphology and function, absolutely necessary for intra-cellular and intercellular coordination of all muscle functions. A good candidate for such a system is the desmin intermediate filament cytoskeletal network. Human desmin mutations and post-translational modifications cause disturbance of this network, thus leading to loss of function of both desmin and its binding partners, as well as potential toxic effects of the formed aggregates. Both loss of normal function and gain of toxic function are linked to mitochondrial defects, cardiomyocyte death, muscle degeneration and development of skeletal myopathy and cardiomyopathy.

journal_name

Curr Opin Cell Biol

authors

Capetanaki Y,Papathanasiou S,Diokmetzidou A,Vatsellas G,Tsikitis M

doi

10.1016/j.ceb.2015.01.004

subject

Has Abstract

pub_date

2015-02-01 00:00:00

pages

113-20

eissn

0955-0674

issn

1879-0410

pii

S0955-0674(15)00006-X

journal_volume

32

pub_type

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