Page 167 - MemoriaER-Eng

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Most relevant • arribas-González e, alonso-torres P, araGón c, lóPez-corcuera b. Calnexin-assisted bio-
genesis of the neuronal glycine transporter 2 (GlyT2). PLoS One 2013; 8(5):e63230
scientific
PubMed.
articles
• de Juan-sanz J, núñez e, lóPez-corcuera b, araGón c. Constitutive endocytosis and tur-
nover of the neuronal glycine transporter GlyT2 is dependent on ubiquitination of a

C-terminal lysine cluster. PLoS One 2013; 8(3):e58863 PubMed.

• de Juan-sanz J, núñez e, VillareJo-lóPez l, Pérez-hernández d, rodríGuez-Fraticelli ae,
l-c b, V J, a c. Na+/K+-ATPase Is a New Interacting Partner
óPezorcueraázquezraGón
for the Neuronal Glycine Transporter GlyT2 That Downregulates Its Expression In

Vitro and In Vivo. J Neurosci 2013; 2013 Aug 28. 33(35):14269-81 PubMed.

• b. cubelos, c. GiMenez and F. zaFra. Localization of the glycine transporter GLYT1
in glutamatergic synaptic vesicles. Neurochem. Int. 2013 Sep 11. pii: S0197-

0186(13)00228-3. doi: 10.1016/j.neuint.2013.09.002. [Epub ahead of print]
PMID:24036061.

• rí, a. o, l.c. b, M.G. G-a, c. G F. z. Ex-
odrGuezrteGaeruMenarcíalcoceriMénezand aFra
pression of the System N transporter (SNAT5/SN2) during development indicates its
plausible role in glutamatergic neurotransmission. Neurochem. Int. 2013 Dec 11.
ó
pii: S0197-0186(13)00308-2. doi: 10.1016/j.neuint.2013.11.011. [Epub ahead of
print] PMID:24333324.

Throughout the year 2013 the group develops two MINECO Research Projects
Highlights
(Pathophysiology of glycine transporters in glycinergic neurotransmission: hy-

perekplexia and pain SAF2011 - 28674 PI: Beatriz López Corcuera 2012-2014;
Glutamatergic hypothesis of schizophrenia.: Molecular mechanisms of transport

of glutamate and glycine at glutamatergic synapses SAF2011 - 29961 PI: Zafra

Francisco Gmez 2012-2014) both directly related to the objectives and lines of
rare diseases. We have concluded a four-year project funded by the Community of

Madrid, and coordinated by Cecilio Giménez) .

Two years ago we started with the U753 group led by Dr Paul Lapunzina and the
Association of Patients with Dravet a genetic screening program and study of Dra-

vet patients by biochemical , electrophysiological and molecular and cell biology

techniques. So far more than 450 mutations have been found in a cohort of Spa-
nish and non-Spanish patients, that we have grouped by topological location in the

protein, and 12 of them are being studying in detail. The results are advanced, are

very interesting and innovative and will publish shortly.

Results published in 2013 are related to the regulation of the neuronal glycine
transporter GlyT2 a protein which is susceptible to mutations responsible for hy-

perekplexia (in 2012 we described a new mutation causing hyperekplexia ) a rare
disease. Until now, we have detected 80 cases of hiperekplexia with the Group
13
U753 and two UK groups (Drs. Harvey and Rees ) . Other publications appear in 20
T
2013 are related with glutamatergic neurotransmission and schizophrenia.
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