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Critical Reviews™ in Neurobiology

Выходит 3 номеров в год

ISSN Печать: 0892-0915

ISSN Онлайн: 2375-0014

SJR: 0.121

The Role of Intermediate Filament Proteins in the Development of Neurological Disease

Том 19, Выпуск 1, 2007, pp. 1-27
DOI: 10.1615/CritRevNeurobiol.v19.i1.10
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Краткое описание

Intermediate filaments (IFs), along with microfilaments and microtubules, comprise the three intracellular filaments identified in eukaryotic cells to date. Together, these three distinct filamentous networks act in a dynamic and tightly interconnected fashion to comprise the eukaryotic cytoskeleton. As such, they are involved in a number of essential and diverse cellular processes, including division, molecular transport, and the maintenance of structural integrity in the face of mechanical stress. Underscoring the ubiquitous importance of IF proteins to the normal function of cellular systems, mutations in IF-encoding genes that affect the structure, function, or regulation of these proteins are commonly found in association with a range of heritable genetic diseases. The diversity of IF-related disease is indeed as wide as the distribution of IF proteins themselves, effecting the development of a broad range of disease phenotypes. Here we review, with specific reference to recent developments in the correlation of genotype with phenotype, how the perturbation of IF networks can elicit the development of human neurological disease.

ЦИТИРОВАНО В
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