PMC Links for Nucleotide (Select 454606499) - PMC

Select item 52835841.

Tryptophan‐rich basic protein (WRB) mediates insertion of the tail‐anchored protein otoferlin and is required for hair cell exocytosis and hearing

Christian Vogl, Iliana Panou, Gulnara Yamanbaeva, Carolin Wichmann, Sara J Mangosing, Fabio Vilardi, Artur A Indzhykulian, Tina Pangršič, Rosamaria Santarelli, Montserrat Rodriguez‐Ballesteros, Thomas Weber, Sangyong Jung, Elena Cardenas, Xudong Wu, Sonja M Wojcik, Kelvin Y Kwan, Ignacio del Castillo, Blanche Schwappach, Nicola Strenzke, David P Corey, Shuh‐Yow Lin, Tobias Moser

EMBO J. 2016 Dec 1; 35(23): 2536–2552. Published online 2016 Jul 25. doi: 10.15252/embj.201593565

PMCID:: PMC5283584

Article PDF–2.6M

Select item 39794172.

Calcium Regulates Molecular Interactions of Otoferlin with Soluble NSF Attachment Protein Receptor (SNARE) Proteins Required for Hair Cell Exocytosis

Neeliyath A. Ramakrishnan, Marian J. Drescher, Barbara J. Morley, Philip M. Kelley, Dennis G. Drescher

J Biol Chem. 2014 Mar 28; 289(13): 8750–8766. Published online 2014 Jan 29. doi: 10.1074/jbc.M113.480533

PMCID:: PMC3979417

Article PDF–2.9M

Select item 36765393.

Otoferlin Couples to Clathrin-Mediated Endocytosis in Mature Cochlear Inner Hair Cells

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

J Neurosci. 2013 May 29; 33(22): 9508–9519. doi: 10.1523/JNEUROSCI.5689-12.2013

PMCID:: PMC3676539

Article PDF–3.5M

Select item 17351864.

Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss

V Migliosi, S Modamio-Hoybjor, M Moreno-Pelayo, M Rodriguez-Ballest..., M Villamar, D Telleria, I Menendez, F Moreno, I del Castillo

J Med Genet. 2002 Jul; 39(7): 502–506. doi: 10.1136/jmg.39.7.502

PMCID:: PMC1735186

Summary PDF–619K

Select item 12875195.

OTOF Encodes Multiple Long and Short Isoforms: Genetic Evidence That the Long Ones Underlie Recessive Deafness DFNB9

Shin'ichiro Yasunaga, M'hamed Grati, Sébastien Chardenoux, Tenesha N. Smith, Thomas B. Friedman, Anil K. Lalwani, Edward R. Wilcox, Christine Petit

Am J Hum Genet. 2000 Sep; 67(3): 591–600. Published online 2000 Jul 19. doi: 10.1086/303049

PMCID:: PMC1287519

Article PDF–394K

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