PMID- 26769242
OWN - NLM
STAT- MEDLINE
DCOM- 20170410
LR  - 20211204
IS  - 1432-2013 (Electronic)
IS  - 0031-6768 (Linking)
VI  - 468
IP  - 5
DP  - 2016 May
TI  - Gap-junctional channel and hemichannel activity of two recently identified 
      connexin 26 mutants associated with deafness.
PG  - 909-18
LID - 10.1007/s00424-016-1788-7 [doi]
AB  - Gap-junction channels (GJCs) are formed by head-to-head association of two 
      hemichannels (HCs, connexin hexamers). HCs and GJCs are permeable to ions and 
      hydrophilic molecules of up to Mr ~1 kDa. Hearing impairment of genetic origin is 
      common, and mutations of connexin 26 (Cx26) are its major cause. We recently 
      identified two novel Cx26 mutations in hearing-impaired subjects, L10P and G109V. 
      L10P forms functional GJCs with slightly altered voltage dependence and HCs with 
      decrease ATP/cationic dye selectivity. G109V does not form functional GJCs, but 
      forms functional HCs with enhanced extracellular Ca(2+) sensitivity and subtle 
      alterations in voltage dependence and ATP/cationic dye selectivity. Deafness 
      associated with G109V could result from decreased GJCs activity, whereas deafness 
      associated to L10P may have a more complex mechanism that involves changes in HC 
      permeability.
FAU - Dalamon, Viviana
AU  - Dalamon V
AD  - Instituto de Investigaciones en Ingenieria Genetica y Biologia Molecular, Dr. 
      Hector N. Torres, Consejo Nacional de Investigaciones Cientificas y Tecnicas, 
      Ciudad Autonoma de Buenos Aires, Argentina.
FAU - Fiori, Mariana C
AU  - Fiori MC
AD  - Department of Cell Physiology and Molecular Biophysics, and Center for Membrane 
      Protein Research, Texas Tech University Health Sciences Center, Lubbock, TX, USA.
FAU - Figueroa, Vania A
AU  - Figueroa VA
AD  - Centro de Fisiologia Celular e Integrativa, Facultad de Medicina, Clinica Alemana 
      Universidad del Desarrollo, Avenida Las Condes, 12438, Santiago, Chile.
FAU - Oliva, Carolina A
AU  - Oliva CA
AD  - Centro de Fisiologia Celular e Integrativa, Facultad de Medicina, Clinica Alemana 
      Universidad del Desarrollo, Avenida Las Condes, 12438, Santiago, Chile.
FAU - Del Rio, Rodrigo
AU  - Del Rio R
AD  - Centro de Investigacion Biomedica, Universidad Autonoma de Chile, Santiago, 
      Chile.
FAU - Gonzalez, Wendy
AU  - Gonzalez W
AD  - Centro de Bioinformatica y Simulacion Molecular (CBSM), Universidad de Talca, 
      Talca, Chile.
FAU - Canan, Jonathan
AU  - Canan J
AD  - Centro de Bioinformatica y Simulacion Molecular (CBSM), Universidad de Talca, 
      Talca, Chile.
FAU - Elgoyhen, Ana B
AU  - Elgoyhen AB
AD  - Instituto de Investigaciones en Ingenieria Genetica y Biologia Molecular, Dr. 
      Hector N. Torres, Consejo Nacional de Investigaciones Cientificas y Tecnicas, 
      Ciudad Autonoma de Buenos Aires, Argentina.
AD  - Departamento de Farmacologia, Facultad de Medicina, Universidad de Buenos Aires, 
      Ciudad Autonoma de Buenos Aires, Argentina.
FAU - Altenberg, Guillermo A
AU  - Altenberg GA
AD  - Department of Cell Physiology and Molecular Biophysics, and Center for Membrane 
      Protein Research, Texas Tech University Health Sciences Center, Lubbock, TX, USA.
FAU - Retamal, Mauricio A
AU  - Retamal MA
AD  - Department of Cell Physiology and Molecular Biophysics, and Center for Membrane 
      Protein Research, Texas Tech University Health Sciences Center, Lubbock, TX, USA. 
      mretamal@udd.cl.
AD  - Centro de Fisiologia Celular e Integrativa, Facultad de Medicina, Clinica Alemana 
      Universidad del Desarrollo, Avenida Las Condes, 12438, Santiago, Chile. 
      mretamal@udd.cl.
LA  - eng
GR  - R01 GM079629/GM/NIGMS NIH HHS/United States
PT  - Journal Article
PT  - Research Support, N.I.H., Extramural
PT  - Research Support, Non-U.S. Gov't
DEP - 20160114
PL  - Germany
TA  - Pflugers Arch
JT  - Pflugers Archiv : European journal of physiology
JID - 0154720
RN  - 0 (Connexins)
RN  - 0 (GJB2 protein, human)
RN  - 127120-53-0 (Connexin 26)
RN  - 8L70Q75FXE (Adenosine Triphosphate)
RN  - SY7Q814VUP (Calcium)
SB  - IM
MH  - Action Potentials
MH  - Adenosine Triphosphate/metabolism
MH  - Animals
MH  - Calcium/metabolism
MH  - Connexin 26
MH  - Connexins/chemistry/genetics/*metabolism
MH  - Deafness/*genetics
MH  - HeLa Cells
MH  - Humans
MH  - Ion Channel Gating
MH  - *Mutation
MH  - Xenopus
OTO - NOTNLM
OT  - Connexins
OT  - Deafness
OT  - Gap-junction channels
OT  - Hemichannels
OT  - Ion channel
OT  - Mutation
EDAT- 2016/01/16 06:00
MHDA- 2017/04/11 06:00
CRDT- 2016/01/16 06:00
PHST- 2015/10/23 00:00 [received]
PHST- 2016/01/05 00:00 [accepted]
PHST- 2015/12/08 00:00 [revised]
PHST- 2016/01/16 06:00 [entrez]
PHST- 2016/01/16 06:00 [pubmed]
PHST- 2017/04/11 06:00 [medline]
AID - 10.1007/s00424-016-1788-7 [pii]
AID - 10.1007/s00424-016-1788-7 [doi]
PST - ppublish
SO  - Pflugers Arch. 2016 May;468(5):909-18. doi: 10.1007/s00424-016-1788-7. Epub 2016 
      Jan 14.