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  Characterization of FBX25, encoding a novel brain-expressed F-box protein

Hagens, O., Minina, E., Schweiger, S., Ropers, H.-H., & Kalscheuer, V. M. (2006). Characterization of FBX25, encoding a novel brain-expressed F-box protein. Biochimica et Biophysica Acta (BBA) - General Subjects, 1760(1), 110-118. doi:10.1016/j.bbagen.2005.09.018.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-84DC-3 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-84DD-1
Genre: Journal Article
Alternative Title : BBA

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 Creators:
Hagens, Olivier1, Author              
Minina, Eleonora2, Author
Schweiger, Susann1, Author              
Ropers, Hans-Hilger1, Author              
Kalscheuer, Vera M.3, Author              
Affiliations:
1Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              
2Max Planck Society, ou_persistent13              
3Chromosome Rearrangements and Disease (Vera Kalscheuer), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479642              

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Free keywords: FBX25; F-box protein; SCF; Neuronal expression; Ubiquitin pathway
 Abstract: F-box proteins (FBPs) confer substrate specificity to the SCF-type (Skp1/Cul1/FBP) of ubiquitin ligase complexes through their F-box. Multiple FBPs have been predicted, but experimental evidence is lagging. We report on the predicted human FBP hFBX25 which we found to be disrupted in a mentally retarded translocation carrier suffering from epileptic seizures. We investigated hFBX25′s genomic organization and established hFBX25 as an FBP by verifying its interaction with Skp1 and Cul1. In the process, we identified an atypical serine residue in the F-box which is crucial for the hFBX25-Skp1 binding. We determined hFBX25′s subcellular localization. We found strong transcription in human brain. In mouse embryonic sections, mFbx25 shows predominantly neuronal expression and in adult mouse brain, expression is confined to the hippocampus, the cerebral cortex and the Purkinje cell layer. Interestingly, aberrations in the ubiquitin pathway have been linked to neurological conditions.

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Language(s): eng - English
 Dates: 2006-01-01
 Publication Status: Published in print
 Pages: -
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 Table of Contents: -
 Rev. Method: -
 Identifiers: eDoc: 307646
DOI: 10.1016/j.bbagen.2005.09.018
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Title: Biochimica et Biophysica Acta (BBA) - General Subjects
  Alternative Title : BBA
Source Genre: Journal
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Pages: - Volume / Issue: 1760 (1) Sequence Number: - Start / End Page: 110 - 118 Identifier: ISSN: 0926-6577