“Linking Cx32 hemichannel dysfunction to Charcot-Marie-Tooth pathogenesis”

Since mutations in the GJB1 gene that encodes connexin 32 (Cx32) were first reported in 1993, more than 450 different
mutations associated with the X-linked form of Charcot–Marie–Tooth disease (CMT1X) have been discovered. A path
from genetic diagnosis to personalized treatment is still unavailable, as the molecular mechanisms underlying the
disease remain unclear. A new paradigm for the molecular pathogenesis of CMT1X has recently been suggested to be
no longer related to Cx32 paired gap junction channels, but rather to unpaired channels (hemichannels), which could
mediate ATP-induced ATP release signaling regulating Schwann cell myelination. The objectives of this basic science
project are: (i) to provide evidence that Cx32 hemichannel dysfunction underlies CMT1X pathogenesis; (ii) to develop
in vitro assays that can be utilized to test candidate therapeutic compounds that will benefit patients affected by
different CMT1X mutations.

LOCATION
The selected candidate will work at the Veneto Institute of Molecular Medicine (VIMM, https://www.vimm.it/) in the
laboratory of Mario Bortolozzi, where state-of-the-art biological and biophysical facilities are available. The VIMM is
an internationally recognized institute with the mission of establishing a close link between basic and clinical research
and promoting translational research. The institute is a dynamic and stimulating environment, located in an attractive
historical city close to Venice and the beautiful Dolomites Mountains.
QUALIFICATIONS

Application are solicited from candidates holding a master’s degree (or equivalent degree), with at least three years
research experience, or a Ph.D. A scientific biophysical background involving fluorescence microscopy and
electrophysiology is highly preferable. Candidates will also be evaluated based on motivation, flexibility and proved
ability to work independently.
CONTACTS

To apply for this position, candidates should send an email to mario.bortolozzi@unipd.it including:

  1. a cover letter describing scientific experience, interests, and career goals
  2. full CV
  3. the names and contact
  4. information of at least two professional references.

Applications will be reviewed immediately and considered until the position is filled.JOB DETAILS
Supervisor: Prof. Mario Bortolozzi, Department of Physics and Astronomy “G. Galilei”, University of Padua,
(Padova), Italy (https://www.vimm.it/scientific-board/mario-bortolozzi/).
Employer: University of Padua. Website: http://www.unipd.it/en/.
Job salary: 30,000 euro/year (gross amount).
Job hours: Full-time.