Endoplasmic reticulum retention and degradation of a mutation in SLC6A1 associated with epilepsy and autism.

Mutations in SLC6A1, encoding γ-aminobutyric acid (GABA) transporter 1 (GAT-1), have been recently associated with a spectrum of epilepsy syndromes, intellectual disability and autism in clinic. However, the pathophysiology of the gene mutations is far from clear.

Here we report a novel SLC6A1 missense mutation in a patient with epilepsy and autism spectrum disorder and characterized the molecular defects of the mutant GAT-1, from transporter protein trafficking to GABA uptake function in heterologous cells and neurons. The heterozygous missense mutation (c1081C to A (P361T)) in SLC6A1 was identified by exome sequencing. We have thoroughly characterized the molecular pathophysiology underlying the clinical phenotypes. We performed EEG recordings and autism diagnostic interview.

Mac-2BP Polyclonal Antibody
ABP59179-01ml	Abbkine	0.1ml	EUR 289
Description: A polyclonal antibody for detection of Mac-2BP from Human, Mouse. This Mac-2BP antibody is for WB, ELISA. It is affinity-purified from rabbit serum by affinity-chromatography using the specific immunogenand is unconjugated. The antibody is produced in rabbit by using as an immunogen synthesized peptide derived from part region of human Mac-2BP protein at amino acid sequence of 100-160

Mac-2BP Polyclonal Antibody
ABP59179-02ml	Abbkine	0.2ml	EUR 414
Description: A polyclonal antibody for detection of Mac-2BP from Human, Mouse. This Mac-2BP antibody is for WB, ELISA. It is affinity-purified from rabbit serum by affinity-chromatography using the specific immunogenand is unconjugated. The antibody is produced in rabbit by using as an immunogen synthesized peptide derived from part region of human Mac-2BP protein at amino acid sequence of 100-160

Anti-Mac-2BP antibody
STJ98720	St John's Laboratory	200 µl	EUR 197
Description: Rabbit polyclonal to Mac-2BP.

Mac-2BP Polyclonal Antibody
46771-100ul	SAB	100ul	EUR 252

Mac-2BP Polyclonal Antibody
46771-50ul	SAB	50ul	EUR 187

CD11b / MAC-1 (Microglial Marker) (ITGAM/271) Antibody
BNC040271-100	Biotium	100uL	EUR 199
Description: Primary antibody against CD11b / MAC-1 (Microglial Marker) (ITGAM/271),CF405S conjugate, Concentration: 0.1mg/mL

CD11b / MAC-1 (Microglial Marker) (ITGAM/271) Antibody
BNC040271-500	Biotium	500uL	EUR 544
Description: Primary antibody against CD11b / MAC-1 (Microglial Marker) (ITGAM/271),CF405S conjugate, Concentration: 0.1mg/mL

CD11b / MAC-1 (Microglial Marker) (ITGAM/271) Antibody
BNC470271-100	Biotium	100uL	EUR 199
Description: Primary antibody against CD11b / MAC-1 (Microglial Marker) (ITGAM/271),CF647 conjugate, Concentration: 0.1mg/mL

CD11b / MAC-1 (Microglial Marker) (ITGAM/271) Antibody
BNC470271-500	Biotium	500uL	EUR 544
Description: Primary antibody against CD11b / MAC-1 (Microglial Marker) (ITGAM/271),CF647 conjugate, Concentration: 0.1mg/mL

CD11b / MAC-1 (Microglial Marker) (ITGAM/271) Antibody
BNC550271-100	Biotium	100uL	EUR 199
Description: Primary antibody against CD11b / MAC-1 (Microglial Marker) (ITGAM/271),CF555 conjugate, Concentration: 0.1mg/mL

CD11b / MAC-1 (Microglial Marker) (ITGAM/271) Antibody
BNC550271-500	Biotium	500uL	EUR 544
Description: Primary antibody against CD11b / MAC-1 (Microglial Marker) (ITGAM/271),CF555 conjugate, Concentration: 0.1mg/mL

CD11b / MAC-1 (Microglial Marker) (ITGAM/271) Antibody
BNCB0271-100	Biotium	100uL	EUR 199
Description: Primary antibody against CD11b / MAC-1 (Microglial Marker) (ITGAM/271),Biotin conjugate, Concentration: 0.1mg/mL

CD11b / MAC-1 (Microglial Marker) (ITGAM/271) Antibody
BNCB0271-500	Biotium	500uL	EUR 544
Description: Primary antibody against CD11b / MAC-1 (Microglial Marker) (ITGAM/271),Biotin conjugate, Concentration: 0.1mg/mL

CD11b / MAC-1 (Microglial Marker) (ITGAM/271) Antibody
BNC810271-100	Biotium	100uL	EUR 199
Description: Primary antibody against CD11b / MAC-1 (Microglial Marker) (ITGAM/271),CF680R conjugate, Concentration: 0.1mg/mL

CD11b / MAC-1 (Microglial Marker) (ITGAM/271) Antibody
BNC810271-500	Biotium	500uL	EUR 544
Description: Primary antibody against CD11b / MAC-1 (Microglial Marker) (ITGAM/271),CF680R conjugate, Concentration: 0.1mg/mL

CD11b / MAC-1 (Microglial Marker) (ITGAM/271) Antibody
BNC700271-100	Biotium	100uL	EUR 199
Description: Primary antibody against CD11b / MAC-1 (Microglial Marker) (ITGAM/271),CF770 conjugate, Concentration: 0.1mg/mL

CD11b / MAC-1 (Microglial Marker) (ITGAM/271) Antibody
BNC700271-500	Biotium	500uL	EUR 544
Description: Primary antibody against CD11b / MAC-1 (Microglial Marker) (ITGAM/271),CF770 conjugate, Concentration: 0.1mg/mL

CD11b / MAC-1 (Microglial Marker) (ITGAM/271) Antibody
BNC880271-100	Biotium	100uL	EUR 199
Description: Primary antibody against CD11b / MAC-1 (Microglial Marker) (ITGAM/271),CF488A conjugate, Concentration: 0.1mg/mL

CD11b / MAC-1 (Microglial Marker) (ITGAM/271) Antibody
BNC880271-500	Biotium	500uL	EUR 544
Description: Primary antibody against CD11b / MAC-1 (Microglial Marker) (ITGAM/271),CF488A conjugate, Concentration: 0.1mg/mL

CD11b / MAC-1 (Microglial Marker) (ITGAM/271) Antibody
BNC940271-100	Biotium	100uL	EUR 199
Description: Primary antibody against CD11b / MAC-1 (Microglial Marker) (ITGAM/271),CF594 conjugate, Concentration: 0.1mg/mL

CD11b / MAC-1 (Microglial Marker) (ITGAM/271) Antibody
BNC940271-500	Biotium	500uL	EUR 544
Description: Primary antibody against CD11b / MAC-1 (Microglial Marker) (ITGAM/271),CF594 conjugate, Concentration: 0.1mg/mL

CD11b / MAC-1 (Microglial Marker) (ITGAM/271) Antibody
BNC680271-100	Biotium	100uL	EUR 199
Description: Primary antibody against CD11b / MAC-1 (Microglial Marker) (ITGAM/271),CF568 conjugate, Concentration: 0.1mg/mL

CD11b / MAC-1 (Microglial Marker) (ITGAM/271) Antibody
BNC680271-500	Biotium	500uL	EUR 544
Description: Primary antibody against CD11b / MAC-1 (Microglial Marker) (ITGAM/271),CF568 conjugate, Concentration: 0.1mg/mL

CD11b / MAC-1 (Microglial Marker) (ITGAM/271) Antibody
BNCA0271-250	Biotium	250uL	EUR 383
Description: Primary antibody against CD11b / MAC-1 (Microglial Marker) (ITGAM/271),APC conjugate, Concentration: 0.1mg/mL

CD11b / MAC-1 (Microglial Marker) (ITGAM/271) Antibody
BNCAP0271-100	Biotium	100uL	EUR 199
Description: Primary antibody against CD11b / MAC-1 (Microglial Marker) (ITGAM/271),Alkaline Phosphatase conjugate, Concentration: 0.1mg/mL

CD11b / MAC-1 (Microglial Marker) (ITGAM/271) Antibody
BNCAP0271-500	Biotium	500uL	EUR 544
Description: Primary antibody against CD11b / MAC-1 (Microglial Marker) (ITGAM/271),Alkaline Phosphatase conjugate, Concentration: 0.1mg/mL

CD11b / MAC-1 (Microglial Marker) (ITGAM/271) Antibody
BNUM0271-50	Biotium	50uL	EUR 395
Description: Primary antibody against CD11b / MAC-1 (Microglial Marker) (ITGAM/271), 1mg/mL

CD11b / MAC-1 (Microglial Marker) (ITGAM/271) Antibody
BNCP0271-250	Biotium	250uL	EUR 383
Description: Primary antibody against CD11b / MAC-1 (Microglial Marker) (ITGAM/271),PerCP conjugate, Concentration: 0.1mg/mL

CD11b / MAC-1 (Microglial Marker) (ITGAM/271) Antibody
BNC050271-100	Biotium	100uL	EUR 199
Description: Primary antibody against CD11b / MAC-1 (Microglial Marker) (ITGAM/271),CF405M conjugate, Concentration: 0.1mg/mL

CD11b / MAC-1 (Microglial Marker) (ITGAM/271) Antibody
BNC050271-500	Biotium	500uL	EUR 544
Description: Primary antibody against CD11b / MAC-1 (Microglial Marker) (ITGAM/271),CF405M conjugate, Concentration: 0.1mg/mL

CD11b / MAC-1 (Microglial Marker) (ITGAM/271) Antibody
BNC400271-100	Biotium	100uL	EUR 199
Description: Primary antibody against CD11b / MAC-1 (Microglial Marker) (ITGAM/271),CF640R conjugate, Concentration: 0.1mg/mL

CD11b / MAC-1 (Microglial Marker) (ITGAM/271) Antibody
BNC400271-500	Biotium	500uL	EUR 544
Description: Primary antibody against CD11b / MAC-1 (Microglial Marker) (ITGAM/271),CF640R conjugate, Concentration: 0.1mg/mL

CD11b / MAC-1 (Microglial Marker) (ITGAM/271) Antibody
BNCR0271-250	Biotium	250uL	EUR 383
Description: Primary antibody against CD11b / MAC-1 (Microglial Marker) (ITGAM/271),RPE conjugate, Concentration: 0.1mg/mL

CD11b / MAC-1 (Microglial Marker) (ITGAM/271) Antibody
BNUB0271-100	Biotium	100uL	EUR 209
Description: Primary antibody against CD11b / MAC-1 (Microglial Marker) (ITGAM/271), Concentration: 0.2mg/mL

CD11b / MAC-1 (Microglial Marker) (ITGAM/271) Antibody
BNUB0271-500	Biotium	500uL	EUR 458
Description: Primary antibody against CD11b / MAC-1 (Microglial Marker) (ITGAM/271), Concentration: 0.2mg/mL

CD11b / MAC-1 (Microglial Marker) (ITGAM/271) Antibody
BNC430271-100	Biotium	100uL	EUR 199
Description: Primary antibody against CD11b / MAC-1 (Microglial Marker) (ITGAM/271),CF543 conjugate, Concentration: 0.1mg/mL

CD11b / MAC-1 (Microglial Marker) (ITGAM/271) Antibody
BNC430271-500	Biotium	500uL	EUR 544
Description: Primary antibody against CD11b / MAC-1 (Microglial Marker) (ITGAM/271),CF543 conjugate, Concentration: 0.1mg/mL

CD11b / MAC-1 (Microglial Marker) (ITGAM/271) Antibody
BNCH0271-100	Biotium	100uL	EUR 199
Description: Primary antibody against CD11b / MAC-1 (Microglial Marker) (ITGAM/271),Horseradish Peroxidase conjugate, Concentration: 0.1mg/mL

CD11b / MAC-1 (Microglial Marker) (ITGAM/271) Antibody
BNCH0271-500	Biotium	500uL	EUR 544
Description: Primary antibody against CD11b / MAC-1 (Microglial Marker) (ITGAM/271),Horseradish Peroxidase conjugate, Concentration: 0.1mg/mL

CD11b / MAC-1 (Microglial Marker) (ITGAM/271) Antibody
BNC610271-100	Biotium	100uL	EUR 199
Description: Primary antibody against CD11b / MAC-1 (Microglial Marker) (ITGAM/271),CF660R conjugate, Concentration: 0.1mg/mL

CD11b / MAC-1 (Microglial Marker) (ITGAM/271) Antibody
BNC610271-500	Biotium	500uL	EUR 544
Description: Primary antibody against CD11b / MAC-1 (Microglial Marker) (ITGAM/271),CF660R conjugate, Concentration: 0.1mg/mL

CD11b / MAC-1 (Microglial Marker) (ITGAM/271) Antibody
BNC800271-100	Biotium	100uL	EUR 199
Description: Primary antibody against CD11b / MAC-1 (Microglial Marker) (ITGAM/271),CF680 conjugate, Concentration: 0.1mg/mL

CD11b / MAC-1 (Microglial Marker) (ITGAM/271) Antibody
BNC800271-500	Biotium	500uL	EUR 544
Description: Primary antibody against CD11b / MAC-1 (Microglial Marker) (ITGAM/271),CF680 conjugate, Concentration: 0.1mg/mL

Mac-2BP Polyclonal Conjugated Antibody
C46771	SAB	100ul	EUR 397

Recombinant H9N2 MAC Hemagglutinin / HA Protein (aa 1-523) [His]
VAng-Wyb6928-100g	Creative Biolabs	100 µg	EUR 1741
Description: Influenza A H9N2 (A/Chicken/Hong Kong/G9/97) Hemagglutinin / HA, recombinant protein.

Recombinant H9N2 MAC Hemagglutinin / HA Protein (aa 1-523) [His]
VAng-Wyb6928-50g	Creative Biolabs	50 µg	EUR 1050
Description: Influenza A H9N2 (A/Chicken/Hong Kong/G9/97) Hemagglutinin / HA, recombinant protein.

Human membrane attack complex(MAC)ELISA Kit
GA-E0376HM-48T	GenAsia Biotech	48T	EUR 289

Human membrane attack complex(MAC)ELISA Kit
GA-E0376HM-96T	GenAsia Biotech	96T	EUR 466

Human membrane attack complex,MAC ELISA Kit
201-12-0360	SunredBio	96 tests	EUR 440
Description: A quantitative ELISA kit for measuring Human in samples from biological fluids.

Human Membrane Attack Complex (MAC) ELISA Kit
abx350654-96tests	Abbexa	96 tests	EUR 668

Rabbit membrane attack complex(MAC)ELISA Kit
QY-E30025	Qayee Biotechnology	96T	EUR 374

Human membrane attack complex(MAC)ELISA Kit
QY-E02156	Qayee Biotechnology	96T	EUR 361

Human membrane attack complex,MAC ELISA Kit
CN-04250H1	ChemNorm	96T	EUR 442

Human membrane attack complex,MAC ELISA Kit
CN-04250H2	ChemNorm	48T	EUR 293

Polyclonal Integrin alpha-M (CD11b, MAC-1, OX-42 Antigen) Antibody
AMM06021G	Leading Biology	0.1mg	EUR 528
Description: A polyclonal antibody raised in Chicken that recognizes and binds to Human Integrin alpha-M (CD11b, MAC-1, OX-42 Antigen) . This antibody is tested and proven to work in the following applications:

Recombinant H9N2 MAC Hemagglutinin HA1 Subunit Protein (aa 1-338) [His]
VAng-Wyb6929-100g	Creative Biolabs	100 µg	EUR 1741
Description: Influenza A H9N2 (A/Chicken/Hong Kong/G9/97) Hemagglutinin HA1 Subunit, recombinant protein.

Recombinant H9N2 MAC Hemagglutinin HA1 Subunit Protein (aa 1-338) [His]
VAng-Wyb6929-10g	Creative Biolabs	10 µg	EUR 573
Description: Influenza A H9N2 (A/Chicken/Hong Kong/G9/97) Hemagglutinin HA1 Subunit, recombinant protein.

Recombinant H9N2 MAC Hemagglutinin HA1 Subunit Protein (aa 1-338) [His]
VAng-Wyb6929-50g	Creative Biolabs	50 µg	EUR 1050
Description: Influenza A H9N2 (A/Chicken/Hong Kong/G9/97) Hemagglutinin HA1 Subunit, recombinant protein.

ELISA kit for Human MAC (Membrane Attack Complex)
E-EL-H5418	Elabscience Biotech	1 plate of 96 wells	EUR 534
Description: A sandwich ELISA kit for quantitative measurement of Human MAC (Membrane Attack Complex) in samples from Serum, Plasma, Cell supernatant

ELISA kit for Human Membrane attack complex (MAC)
KTE62641-48T	Abbkine	48T	EUR 354
Description: Quantitative sandwich ELISA for measuring Human Membrane attack complex (MAC) in samples from cell culture supernatants, serum, whole blood, plasma and other biological fluids.

ELISA kit for Human Membrane attack complex (MAC)
KTE62641-5platesof96wells	Abbkine	5 plates of 96 wells	EUR 2252
Description: Quantitative sandwich ELISA for measuring Human Membrane attack complex (MAC) in samples from cell culture supernatants, serum, whole blood, plasma and other biological fluids.

ELISA kit for Human Membrane attack complex (MAC)
KTE62641-96T	Abbkine	96T	EUR 572
Description: Quantitative sandwich ELISA for measuring Human Membrane attack complex (MAC) in samples from cell culture supernatants, serum, whole blood, plasma and other biological fluids.

Monoclonal CD11b / MAC-1 (Microglial Marker) Antibody - With BSA and Azide, Clone: M1/70
AMM05473G	Leading Biology	0.05mg	EUR 396
Description: A Monoclonal antibody against Human CD11b / MAC-1 (Microglial Marker) - With BSA and Azide. The antibodies are raised in Rat and are from clone M1/70. This antibody is applicable in IHC, IF, FC, IP, E

Monoclonal CD11b / MAC-1 (Microglial Marker) Antibody - With BSA and Azide, Clone: C11b/660
APG03040G	Leading Biology	0.05mg	EUR 396
Description: A Monoclonal antibody against Human CD11b / MAC-1 (Microglial Marker) - With BSA and Azide. The antibodies are raised in Mouse and are from clone C11b/660. This antibody is applicable in IHC, IF, FC, IP, E

Monoclonal CD11b / MAC-1 (Microglial Marker) Antibody - Without BSA and Azide, Clone: M1/70
APG03041G	Leading Biology	0.1mg	EUR 484
Description: A Monoclonal antibody against Human CD11b / MAC-1 (Microglial Marker) - Without BSA and Azide. The antibodies are raised in Rat and are from clone M1/70. This antibody is applicable in IF, FC

Monoclonal CD11b / MAC-1 (Microglial Marker) Antibody - Without BSA and Azide, Clone: C11b/660
APG03042G	Leading Biology	0.1mg	EUR 484
Description: A Monoclonal antibody against Human CD11b / MAC-1 (Microglial Marker) - Without BSA and Azide. The antibodies are raised in Mouse and are from clone C11b/660. This antibody is applicable in IF, FC

Monoclonal MAC-2-BP / LGALS3BP Antibody (clone 2B1), Clone: 2B1
AMM02212G	Leading Biology	0.05ml	EUR 484
Description: A Monoclonal antibody against Human MAC-2-BP / LGALS3BP (clone 2B1). The antibodies are raised in Mouse and are from clone 2B1. This antibody is applicable in WB and IHC-P, Flo

Recombinant Human CD59/ CD59A/ MAC-IP Protein, GST, E.coli-100ug
QP5791-ec-100ug	EnQuireBio	100ug	EUR 408

Recombinant Human CD59/ CD59A/ MAC-IP Protein, GST, E.coli-10ug
QP5791-ec-10ug	EnQuireBio	10ug	EUR 200

Recombinant Human CD59/ CD59A/ MAC-IP Protein, GST, E.coli-1mg
QP5791-ec-1mg	EnQuireBio	1mg	EUR 1632

Recombinant Human CD59/ CD59A/ MAC-IP Protein, GST, E.coli-200ug
QP5791-ec-200ug	EnQuireBio	200ug	EUR 634

Recombinant Human CD59/ CD59A/ MAC-IP Protein, GST, E.coli-500ug
QP5791-ec-500ug	EnQuireBio	500ug	EUR 1060

Recombinant Human CD59/ CD59A/ MAC-IP Protein, GST, E.coli-50ug
QP5791-ec-50ug	EnQuireBio	50ug	EUR 263

Recombinant Human CD59/ CD59A/ MAC-IP Protein, His, Yeast-100ug
QP5791-ye-100ug	EnQuireBio	100ug	EUR 480

Recombinant Human CD59/ CD59A/ MAC-IP Protein, His, Yeast-10ug
QP5791-ye-10ug	EnQuireBio	10ug	EUR 236

Recombinant Human CD59/ CD59A/ MAC-IP Protein, His, Yeast-1mg
QP5791-ye-1mg	EnQuireBio	1mg	EUR 1885

Recombinant Human CD59/ CD59A/ MAC-IP Protein, His, Yeast-200ug
QP5791-ye-200ug	EnQuireBio	200ug	EUR 744

Recombinant Human CD59/ CD59A/ MAC-IP Protein, His, Yeast-500ug
QP5791-ye-500ug	EnQuireBio	500ug	EUR 1206

Recombinant Human CD59/ CD59A/ MAC-IP Protein, His, Yeast-50ug
QP5791-ye-50ug	EnQuireBio	50ug	EUR 299

Neuregulin/Heregulin-1? (NRG-1?/HRG-1?), human recombinant protein
P1054-1	ApexBio	1 mg	EUR 3947
Description: Neuregulin (NRG) is a signaling protein for ErbB2/ErbB4 receptor heterodimers on the cardiac muscle cells and plays an important role in heart structure and function through inducing cardiomyocyte differentiation

Angiotensin 1/2 (1-7) amide
A1054-1	ApexBio	1 mg	EUR 96
Description: Angiotensin I/II (1-7) amide (H2N-Asp-Arg-Val-Tyr-Ile-His-Pro-amide) is a peptide analog to angiotensin II that is used as a vasopressor in the treatment of certain types of shock and circulatory collapse.

Angiotensin 1/2 (1-8) amide
A1055-1	ApexBio	1 mg	EUR 96
Description: The physiologically active peptide angiotensin-2 (angiotensin 1- 8) is yielded from angiotensin-1, a substrate of ACE (angiotensin converting enzyme), by removing a dipeptide.

Endothelin-1 (1-15), amide, human
A1111-1	ApexBio	1 mg	EUR 722
Description: Endothelins are 21-amino acid vasoconstricting peptides produced primarily in the endothelium and have a key role in vascular homeostasis.

Haptoglobin, (Phenotype 1-1) Human Plasma
7536-1	Biovision		EUR 321

Flutax 1
B6986-1	ApexBio	1 mg	EUR 399

TAPI-1
B4686-1	ApexBio	1 mg	EUR 268
Description: TAPI-1 is an inhibitor of tumour necrosis factor with IC50 value of 8.09 ?M [1].TAPI-1 is an inhibitor of TACE/ADAM17 which catalyzes the cleavage of full-length APP to the soluble N-terminal fragment (sAPP?).

C14TKL-1
B5240-1	ApexBio	1 mg	EUR 399

?1-MSH
B5427-1	ApexBio	1 mg	EUR 268

MMK 1
B5446-1	ApexBio	1 mg	EUR 268

CRSP-1
B5452-.1	ApexBio	100 ug	EUR 415

ADWX 1
B5722-.1	ApexBio	100 ug	EUR 583
Description: ADWX 1 is a potent and selective inhibitor of KV1.3 channel with IC50 values of 1.89 pM and 0.65 nM for Kv1.3 and Kv1.1, respectively [1].

Purotoxin 1
B5771-.1	ApexBio	100 µg	EUR 380

Shz 1
B5772-1	ApexBio	1 mg	EUR 118

Psalmotoxin 1
B5796-.1	ApexBio	100 ug	EUR 447
Description: IC50: 0.9 nMPsalmotoxin 1 is a potent and selective acid-sensing ion channel 1a (ASIC1a) blocker.Several ASIC subunits described: ASIC1a, ASIC1b, ASIC2a, ASIC2b, and ASIC3 with different kinetics, tissue distribution, and external pH sensitivities.

UK 1
C5006-1	ApexBio	1 mg	EUR 363
Description: UK 1, an unusual bis-benzoxazole metabolite isolated from Streptomyces sp. 517-02, is an inhibitor of topoisomerase II (Topo II) and hepatitis C viral replication.

KP372-1
C5053-1	ApexBio	1 mg	EUR 132
Description: IC50: 30-60 nM for thyroid cancer cells KP372-1 is a specific Akt inhibitor. The phosphatidylinositol 3' kinase (PI3K)/phosphatase, which is a key regulator of cell proliferation and survival, is mutated or activated in various cancers.