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@ARTICLE{Tan:829983,
      author       = {Tan, Hua and Bungert, Stefanie and Fahlke, Christoph and
                      Stölting, Gabriel},
      title        = {{R}educed {M}embrane {I}nsertion of {CLC}-{K} by {V}33{L}
                      {B}arttin {R}esults in {L}oss of {H}earing, but {L}eaves
                      {K}idney {F}unction {I}ntact},
      journal      = {Frontiers in physiology},
      volume       = {8},
      issn         = {1664-042X},
      address      = {Lausanne},
      publisher    = {Frontiers Research Foundation},
      reportid     = {FZJ-2017-03585},
      pages        = {269},
      year         = {2017},
      abstract     = {In the mammalian ear, transduction of sound stimuli is
                      initiated by K+ entry through mechano-sensitive channels
                      into inner hair cells. K+ entry is driven by a positive
                      endocochlear potential that is maintained by the marginal
                      cell layer of the stria vascularis. This process requires
                      basolateral K+ import by NKCC1 Na+−2Cl−−K+
                      co-transporters as well as Cl− efflux through
                      ClC-Ka/barttin or ClC-Kb/barttin channels. Multiple
                      mutations in the gene encoding the obligatory CLC-K subunit
                      barttin, BSND, have been identified in patients with Bartter
                      syndrome type IV. These mutations reduce the endocochlear
                      potential and cause deafness. As CLC-K/barttin channels are
                      also expressed in the kidney, patients with Bartter syndrome
                      IV typically also suffer from salt-wasting hyperuria and
                      electrolyte imbalances. However, there was a single report
                      on a BSND mutation that resulted only in deafness, but not
                      kidney disease. We herein studied the functional
                      consequences of another recently discovered BSND mutation
                      that predicts exchange of valine at position 33 by leucine.
                      We combined whole-cell patch clamp, confocal microscopy and
                      protein biochemistry to analyze how V33L affects distinct
                      functions of barttin. We found that V33L reduced membrane
                      insertion of CLC-K/barttin complexes without altering
                      unitary CLC-K channel function. Our findings support the
                      hypothesis of a common pathophysiology for the selective
                      loss of hearing due to an attenuation of the total chloride
                      conductance in the stria vascularis while providing enough
                      residual function to maintain normal kidney function.},
      cin          = {ICS-4},
      ddc          = {610},
      cid          = {I:(DE-Juel1)ICS-4-20110106},
      pnm          = {553 - Physical Basis of Diseases (POF3-553)},
      pid          = {G:(DE-HGF)POF3-553},
      typ          = {PUB:(DE-HGF)16},
      UT           = {WOS:000403229100001},
      pubmed       = {pmid:28555110},
      doi          = {10.3389/fphys.2017.00269},
      url          = {https://juser.fz-juelich.de/record/829983},
}