Literature DB >> 18772196

Rab8b GTPase, a protein transport regulator, is an interacting partner of otoferlin, defective in a human autosomal recessive deafness form.

Paulina Heidrych1, Ulrike Zimmermann, Andreas Bress, Carsten M Pusch, Peter Ruth, Markus Pfister, Marlies Knipper, Nikolaus Blin.   

Abstract

Mutations within OTOF encoding otoferlin lead to a recessive disorder called DFNB9. Several studies have indicated otoferlin's association with ribbon synapses of cochlear sensory hair cells, as well as data showing the protein's presence in neurons, nerve fibers and hair cells, suggesting a more ubiquitous function. Otoferlin's co-localization not only with ribbon synaptic proteins, but also with additional endosomal (EEA1) or Golgi proteins (GM130) were motivation for a search for further binding partners of otoferlin by a yeast two-hybrid screen in a rodent cochlear cDNA library (P3-P15). This screen identified Rab8b GTPase as a novel interacting partner, substantiated by transient co-expression and co-localization in HEK 293 cells and co-immunoprecipitation of the complex using tagged proteins in vitro and native proteins from cochlea. This finding implies that otoferlin could be a part of components contributing to trans-Golgi trafficking.

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Year:  2008        PMID: 18772196     DOI: 10.1093/hmg/ddn279

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN: 0964-6906            Impact factor:   6.150


  24 in total

Review 1.  Ferlins: regulators of vesicle fusion for auditory neurotransmission, receptor trafficking and membrane repair.

Authors:  Angela Lek; Frances J Evesson; R Bryan Sutton; Kathryn N North; Sandra T Cooper
Journal:  Traffic       Date:  2011-09-06       Impact factor: 6.215

Review 2.  Ferlin proteins in myoblast fusion and muscle growth.

Authors:  Avery D Posey; Alexis Demonbreun; Elizabeth M McNally
Journal:  Curr Top Dev Biol       Date:  2011       Impact factor: 4.897

Review 3.  Role of Rab GTPases in membrane traffic and cell physiology.

Authors:  Alex H Hutagalung; Peter J Novick
Journal:  Physiol Rev       Date:  2011-01       Impact factor: 37.312

4.  Deciphering the roles of C(2)-domain-containing proteins (synaptotagmins and otoferlin) in the inner ear.

Authors:  Frederick D Gregory; Patricia M Quiñones
Journal:  J Neurosci       Date:  2011-03-30       Impact factor: 6.167

Review 5.  Consequences of Rab GTPase dysfunction in genetic or acquired human diseases.

Authors:  Marcellus J Banworth; Guangpu Li
Journal:  Small GTPases       Date:  2017-12-28

6.  Exocyst Complex Member EXOC5 Is Required for Survival of Hair Cells and Spiral Ganglion Neurons and Maintenance of Hearing.

Authors:  Byeonghyeon Lee; Jeong-In Baek; Hyehyun Min; Seung-Hyun Bae; Kyeonghye Moon; Min-A Kim; Ye-Ri Kim; Ben Fogelgren; Joshua H Lipschutz; Kyu-Yup Lee; Jinwoong Bok; Un-Kyung Kim
Journal:  Mol Neurobiol       Date:  2018-01-11       Impact factor: 5.590

7.  Association of adaptor protein TRIP8b with clathrin.

Authors:  Nadezhda V Popova; Igor E Deyev; Alexander G Petrenko
Journal:  J Neurochem       Date:  2011-08-12       Impact factor: 5.372

8.  Generation of somatic electromechanical force by outer hair cells may be influenced by prestin-CASK interaction at the basal junction with the Deiter's cell.

Authors:  Jelka Cimerman; Jörg Waldhaus; Csaba Harasztosi; Susanne V Duncker; Juliane Dettling; Paulina Heidrych; Andreas Bress; Claudia Gampe-Braig; Gerhard Frank; Anthony W Gummer; Dominik Oliver; Marlies Knipper; Ulrike Zimmermann
Journal:  Histochem Cell Biol       Date:  2013-03-30       Impact factor: 4.304

9.  Myoferlin is required for insulin-like growth factor response and muscle growth.

Authors:  Alexis R Demonbreun; Avery D Posey; Konstantina Heretis; Kayleigh A Swaggart; Judy U Earley; Peter Pytel; Elizabeth M McNally
Journal:  FASEB J       Date:  2009-12-11       Impact factor: 5.191

10.  Otoferlin couples to clathrin-mediated endocytosis in mature cochlear inner hair cells.

Authors:  Susanne V Duncker; Christoph Franz; Stephanie Kuhn; Uwe Schulte; Dario Campanelli; Niels Brandt; Bernhard Hirt; Bernd Fakler; Nikolaus Blin; Peter Ruth; Jutta Engel; Walter Marcotti; Ulrike Zimmermann; Marlies Knipper
Journal:  J Neurosci       Date:  2013-05-29       Impact factor: 6.167

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