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Principal Investigator/Program Director (Last, First, Middle):
Sanchez-Riquelme, Helmuth, A
OMB No. 0925-0001/0002 (Rev. 08/12 Approved Through 8/31/2015)
BIOGRAPHICAL SKETCH
Provide the following information for the Senior/key personnel and other significant contributors.
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NAME
POSITION TITLE
Sanchez-Riquelme, Helmuth Alberto
eRA COMMONS USER NAME (credential, e.g., agency login)
HelmuthSanchez
EDUCATION/TRAINING (Begin with baccalaureate or other initial professional education, such as nursing, include postdoctoral training and
residency training if applicable.)
DEGREE
INSTITUTION AND LOCATION
MM/YY
FIELD OF STUDY
(if applicable)
Catholic University of Chile, Santiago, Chile
Catholic University of Chile, Santiago, Chile
AECOM, of Yeshiva University, Bronx, NY, USA
AECOM, Bronx, NY, USA
B.S.
03/96-08/00
Ph.D.
03/03-09/08
Postdoctoral 11/08-02/15.
Associate
03/15-10/16
Biology
Physiology
Neurosciences
Neurosciences
A. Personal Statement
Gap junctions channels (GJCs) provide direct communication between the cytoplasms of neighboring cells.
Each GJC is made of the docking of two connexin hemichannel (Cx-HCs). There is emerging evidence that
Cx-HCs play important roles in physiology and physiopathology by mediating the passage of signaling
molecules across the plasma membrane. Mutations that affect connexin genes could compromise Cx-HC
function and result in diseases. My professional career has been focused in the study of Cx-HCs, trying to
understand what conditions induce their opening and how it correlates with increased membrane permeability,
loss of electrochemical gradients, and incidence of cell death. The goal of my current research is try to
understand what changes induced by Cx26 mutations could explain phenotypes observed in syndromic
deafness disorders.
B. Positions and Honors
Positions
 1996-2000. Bachelor in Biological Sciences, Faculty of Biological Sciences, Catholic University of
Chile, Santiago, Chile.
 2000-2002. Teaching Assistant, Neurobiology, Faculty of Biological Sciences, Catholic University of
Chile, Santiago, Chile.
 2003-2008. PhD. In Biological Sciences (Physiology). Catholic University of Chile,, Santiago, Chile.
 2008-Present. Research Fellow. Dominick P. Pourpura Dept. of Neurosciences, AECOM, Bronx,
NY.
Honors
 1996-2000. “Padre Hurtado” scholarship for free studies. Catholic University of Chile, Santiago,
Chile.
 2003-2008. Graduate studies fellowship. National Commission for Scientific and Technology
Research (CONICYT, Government of Chile).
 2015-2016. IDRCC-Pilot Grant, Rose F. Kennedy Intellectual and Developmental Disabilities
Research Center (IDDRC); Albert Einstein College of Medicine.” Protection Against Hearing Loss
with Cyclodextrin Treatment of Niemann-Pick type C Disease”
C. Publications
Peer-reviewed
1. Sanchez HA, Slavi N, Srinivas M and Verselis VK. Syndromic deafness mutations at Asn 14
differentially alter the open stability of Cx26 hemichannels. J Gen Physiol 148:25-42, 2016. PMCID:
PMC4924935.
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Sanchez-Riquelme, Helmuth, A
Sanchez HA, Bienkowski R, Slavi N, Srinivas M and Verselis VK. Altered inhibition of Cx26
hemichannels by pH and Zn2+ in the A40V mutation associated with Keratitis-Ichthyosis-Deafness
syndrome. J Biol Chem 289: 21519-21532, 2014. PMCID: PMC4118113.
Sánchez HA, Villone K, Srinivas M and Verselis VK (2013). The D50N mutation and syndromic
deafness: Altered Cx26 hemichannel properties caused by effects on the pore and intersubunit
interactions. J Gen Physiol 142:3-22, 2013. PMCID:PMC3691445.
Rubinos C, Sánchez HA, Verselis VK, Srinivas M (2012). Mechanism of inhibition of connexin
channels by the quinine derivative N-benzylquininium. J Gen Physiol 139:69-82. PMCID:PMC3250100.
Sánchez HA, Meşe G, Srinivas M, White TW and Verselis VK (2010). Differentially altered Ca2+
regulation and Ca2+ permeability in Cx26 hemichannels formed by the A40V and G45E mutations that
cause Keratitis-Ichthiosis-Deafness Syndrome. J Gen Physiol 136: 47-62. PMCID:PMC2894548.
Schalper KA, Sánchez HA, Lee SC, Altenberg GA, Nathanson MH and Sáez JC (2010). Connexin 43
hemichannels mediate the Ca2+ influx induced by extracellular alkalinization. Am J Physiol Cell Physiol
299: C1504–C1515. PMCID:PMC3774097.
Sánchez HA, Orellana JA, Verselis VK and Sáez JC (2009). Metabolic inhibition increases activity of
connexin-32 hemichannels permeable to Ca2+ in transfected HeLa cells. Am J Physiol Cell Physiol
297: C665–C678. PMCID:PMC2740400.
Eugenín EA, González HE, Sánchez HA, Brañes MC and Sáez JC (2007). Inflammatory conditions
induce gap junctional communication between rat Kupffer cells both in vivo and in vitro. Cell Immunol
247:103–110. PMCID:PMC2105790.
Contreras JE, Sánchez HA, Eugenín EA, Speidel D, Theis M, Willecke K, Bukauskas FF, Bennett
MVL and Sáez JC (2002). Metabolic inhibition induces opening of unapposed connexin43 gap junction
hemichannels and reduces gap junctional communication in cortical rat astrocytes in culture. Proc Natl
Acad Sci USA 99: 495-500. PMCID:PMC117588.
Invited Reviews
1. Sanchez HA, Verselis VK. Aberrant Cx26 hemichannels and keratitis-ichthyosis-deafness syndrome:
insights into syndromic hearing loss (2014) Front Cell Neurosci 8:354. PMCID: PMC4209889.
2. Orellana JA, Sánchez HA, Schalper KA, Figueroa V, Sáez JC. Regulation of intercellular calcium
signaling through calcium interactions with connexin-based channels (2012). Adv Exp Med Biol 740: 777794. PMID:22453969.
3. Orellana JA, Figueroa XF, Sánchez HA, Contreras-Duarte S, Velarde V, Sáez JC (2011). Hemichannels
in the neurovascular unit and white matter under normal and inflamed conditions. CNS Neurol Disord Drug
Targets 10(3): 404-414. PMID:21288190.
4. Contreras JE, Sánchez HA, Véliz LP, Bukauskas FF, Bennett MVL and Sáez JC (2004). Role of
connexin-based gap junction channels and hemichannels in ischemia-induced cell death in nervous
tissue. Brain Res Rev 47: 290–303. PMCID:PMC3651737.
D. RESEARCH SUPPORT
NIH Grant T32-NS007439
Verselis VK (PI).
NIH/NINDS
“Mechanisms of Intercellular Communication”
This application is for highly-focused post-doctoral training to study mechanism of intercellular communication
though electrical and chemical synapses.
Role: Research Fellow (03/2012-10/2016).