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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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