Did you know ? If you order before Friday 14h we deliver 90PCT of the the time next Tuesday, GENTAUR another in time delivery

Pubmed ID :25915028
Publication Date : //

PRRT2 Mutant Leads to Dysfunction of Glutamate Signaling.

Paroxysmal kinesigenic choreoathetosis (PKC) is an inherited disease of the nervous system. We previously identified PRRT2 as the causative gene of PKC. However, as little is known about the function of PRRT2, elucidating its function will benefit not only PKC studies, but also many other related disorders. Here, we reveal higher levels of glutamate in the plasma of PKC patients and the culture medium of neurons following knock-out Prrt2 expression. Using double immunostaining assays we confirm Prrt2 is located at the glutamatergic neurons in accordance with its function. Our co-immunoprecipitation assays reveal mutant PRRT2 interferes with SNAP25 and GRIA1 interactions, respectively. Furthermore, using live-labeling techniques, we confirmed co-transfection with mutant PRRT2 caused an increase in GRIA1 distribution on the cell surface. Therefore, our results suggest that mutant PRRT2, probably through its weakened interaction with SNAP25, affects glutamate signaling and glutamate receptor activity, resulting in the increase of glutamate release and subsequent neuronal hyperexcitability.

Authors : Li Ming , Niu Fenghe , Zhu Xilin , Wu Xiaopan , Shen Ning , Peng Xiaozhong , Liu Ying ,

Related products :

Catalog number Product name Quantity
PRRT2 PRRT2 Gene proline-rich transmembrane protein 2
HPAI-A335E Human PAI-1 substrate form P12 glutamate mutant 1.0 mg
HPAI-A335E Human PAI-1 substrate form P12 glutamate mutant 0.5 mg
orb60413 Sildenafil citrate Sildenafil citrate is a drug used to treat erectile dysfunction and pulmonary arterial hypertension (PAH). For research use only. 10 mg
orb81653 Hepatitis Surface Antigen adw subtype, Mutant K-141-E protein Recombinant HBsAg adw antigen was mutated by replacing the Lysine residue at position 141 with Glutamate. For research use only. 10
orb81252 Human p53 Mutant protein p53 Mutant Human Recombinant full length protein (a.a 135) expressed in E.coli, shows 81 kDa band on SDS-PAGE.The p53 Mutant is purified by proprietary chromatographic techniq 2
018706A PRRT2 250ul
049108A Prrt2 250ul
YF-PA21813 anti-PRRT2 50 ug
7295P PRRT2 Peptide 0.05 mg
7295 PRRT2 Antibody 0.05 mg
26-934 Glutamate dehydrogenase (EC catalyzes the reversible oxidative deamination of glutamate to alpha-ketoglutarate using NAD and_or NADP as cofactors.Glutamate dehydrogenase (EC catalyze 0.05 mg
AP17642c PRRT2 Antibody (Center)
ATGP2531 PRRT2, 1-268aa, Human, His tag, E.coli , Other 250ug
MT-h18944 PRRT2 3&_39;UTR Lenti-reporter-Luc Vector 1ug
ATGP2531 PRRT2, 1-268aa, Human, His tag, E.coli 50ug
ATGP2531 PRRT2, 1-268aa, Human, His tag, E.coli , Other 50ug
ATGP2531 PRRT2, 1-268aa, Human, His tag, E.coli 250ug
abx029679 Polyclonal Rabbit PRRT2 Antibody 100 μl
H00112476-P01-25 PRRT2 (Human) Recombinant Protein (P01) 25 ug
AP17642c-ev20 PRRT2 Antibody (Center)
H00112476-P01-10 PRRT2 (Human) Recombinant Protein (P01) 10 ug
MV-h68944 PRRT2 3&_39;UTR Lenti-reporter-GFP Virus 3.0ml
BP17642c PRRT2 Antibody (Center) Blocking Peptide 2
cyt-384 Recombinant Human Tumor Necrosis Factor-alpha, Mutant TNF a Mutant 50


GENTAUR Belgium BVBA BE0473327336
Voortstraat 49, 1910 Kampenhout BELGIUM
Tel 0032 16 58 90 45

Fax 0032 16 50 90 45
info@gentaur.com | Gentaur

Howard Frank Turnberry House
1404-1410 High Road
Whetstone London N20 9BH
Tel 020 3393 8531 Fax 020 8445 9411
uk@gentaur.com | Gentaur



9, rue Lagrange, 75005 Paris
Tel 01 43 25 01 50

Fax 01 43 25 01 60
RCS Paris B 484 237 888

SIRET 48423788800017


france@gentaur.com | Gentaur

Marienbongard 20
52062 Aachen Deutschland
Support Karolina Elandt
Tel: 0035929830070
Fax: (+49) 241 56 00 47 88

Logistic :0241 40 08 90 86
Bankleitzahl 39050000
IBAN lautet DE8839050000107569353
Handelsregister Aachen HR B 16058
Umsatzsteuer-Identifikationsnummer *** DE 815175831
Steuernummer 201/5961/3925
de@gentaur.com | Gentaur

Genprice Inc, Logistics
547, Yurok Circle
San Jose, CA 95123
CA 95123
Tel (408) 780-0908,
Fax (408) 780-0908,

Genprice Inc, Invoices and accounting
6017 Snell Ave, Ste 357
San Jose, CA 95123

GENTAUR Nederland BV
NL850396268B01 KVK nummer 52327027
Kuiper 1
5521 DG Eersel Nederland
Tel:  0208-080893  Fax: 0497-517897
nl@gentaur.com | Gentaur
IBAN: NL04 RABO 0156 9854 62   SWIFT RABONL2U

spain@gentaur.com | Gentaur

ID # 201 358 931 /BULSTAT
София 1000, ул. "Граф Игнатиев" 53 вх. В, ет. 2
Tel 0035924682280 Fax 0035924808322
e-mail: Sofia@gentaur.com | Gentaur
IBAN: BG11FINV91501014771636

GENTAUR Poland Sp. z o.o.

ul. Grunwaldzka 88/A m.2
81-771 Sopot, Poland
TEL Gdansk 058 710 33 44 FAX  058 710 33 48              

poland@gentaur.com | Gentaur

Other countries

Österreich +43720880899

Canada Montreal +15149077481

Ceská republika Praha +420246019719

Danmark +4569918806

Finland Helsset +358942419041

Magyarország Budapest +3619980547

Ireland Dublin+35316526556


Norge Oslo+4721031366

Sverige Stockholm+46852503438

Schweiz Züri+41435006251

US New York+17185132983

SRL IVA IT03841300167
Piazza Giacomo Matteotti, 6
24122 Bergamo Tel 02 36 00 65 93
Fax 02 36 00 65 94
italia@gentaur.com | Gentaur