2009
DOI: 10.1172/jci38277
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Functions of the intermediate filament cytoskeleton in the eye lens

Abstract: Intermediate filaments (IFs) are a key component of the cytoskeleton in virtually all vertebrate cells, including those of the lens of the eye. IFs help integrate individual cells into their respective tissues. This Review focuses on the lens-specific IF proteins beaded filament structural proteins 1 and 2 (BFSP1 and BFSP2) and their role in lens physiology and disease. Evidence generated in studies in both mice and humans suggests a critical role for these proteins and their filamentous polymers in establishi… Show more

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Cited by 156 publications
(116 citation statements)
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References 112 publications
(130 reference statements)
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“…S7.3). Interestingly, the pseudogenization of BFSP2 and GUCA1C have been reported in mice with reduced vision, supporting the hypothesis that the two genes are likely associated with the poor vision of pangolins (Imanishi et al 2002;Sandilands et al 2004;Song et al 2009).…”
Section: Pangolin-specific Phenotypessupporting
confidence: 56%
“…S7.3). Interestingly, the pseudogenization of BFSP2 and GUCA1C have been reported in mice with reduced vision, supporting the hypothesis that the two genes are likely associated with the poor vision of pangolins (Imanishi et al 2002;Sandilands et al 2004;Song et al 2009).…”
Section: Pangolin-specific Phenotypessupporting
confidence: 56%
“…However, IFs contain numerous phosphorylation sites, and the function of their in vivo phosphorylation and their hierarchal regulation (including dephosphorylation) is poorly understood. In addition, relatively few IF-associated proteins have been identified, but the list of these proteins is ever growing (4,33), and there are several examples of IF-pathies that are caused by mutations in genes encoding either IF proteins or their associated proteins (19,20).…”
Section: Numerous Opportunities and Challenges In The If Fieldmentioning
confidence: 99%
“…These are the principal cytoskeletal element of the eye lens and are essential in maintaining lens cell architecture and the lens optical properties (Song et al, 2009). …”
Section: Type Vi: the Lens If Proteins Filensin And Phakininmentioning
confidence: 99%