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

46771-50ul 50ul
EUR 187

Mac-2BP Polyclonal Antibody

ABP59179-003ml 0.03ml
EUR 158
  • Immunogen information: Synthesized peptide derived from part region of human Mac-2BP protein at amino acid sequence of 100-160
  • Applications tips:
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

ABP59179-01ml 0.1ml
EUR 289
  • Immunogen information: Synthesized peptide derived from part region of human Mac-2BP protein at amino acid sequence of 100-160
  • Applications tips:
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 0.2ml
EUR 414
  • Immunogen information: Synthesized peptide derived from part region of human Mac-2BP protein at amino acid sequence of 100-160
  • Applications tips:
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

ES8657-100ul 100ul
EUR 279
Description: A Rabbit Polyclonal antibody against Mac-2BP from Human/Mouse. This antibody is tested and validated for WB, ELISA, WB, ELISA

Mac-2BP Polyclonal Antibody

ES8657-50ul 50ul
EUR 207
Description: A Rabbit Polyclonal antibody against Mac-2BP from Human/Mouse. This antibody is tested and validated for WB, ELISA, WB, ELISA

Anti-Mac-2BP antibody

STJ98720 200 µl
EUR 197
Description: Rabbit polyclonal to Mac-2BP.

CD11b / MAC-1 (Microglial Marker) (ITGAM/271) Antibody

BNUB0271-100 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 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

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

CD11b / MAC-1 (Microglial Marker) (ITGAM/271) Antibody

BNC040271-100 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 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

BNC610271-100 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 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

BNC470271-100 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 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 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 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

BNC050271-100 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 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 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 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

BNC430271-100 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 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

BNC800271-100 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 500uL
EUR 544
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

BNC810271-100 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 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

BNCP0271-250 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

BNCR0271-250 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

BNCA0271-250 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 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 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

BNCH0271-100 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 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

BNC940271-100 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 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

BNC700271-100 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 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

BNCB0271-100 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 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

BNC880271-100 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 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

BNC680271-100 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 500uL
EUR 544
Description: Primary antibody against CD11b / MAC-1 (Microglial Marker) (ITGAM/271),CF568 conjugate, Concentration: 0.1mg/mL

Mac-2BP Polyclonal Conjugated Antibody

C46771 100ul
EUR 397

Recombinant H9N2 MAC Hemagglutinin / HA Protein (aa 1-523) [His]

VAng-Wyb6928-100g 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 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

201-12-0360 96 tests
EUR 440
  • This membrane attack complex ELISA kit is validated to work with samples from whole blood, serum, plasma and cell culture supernatant.
Description: A quantitative ELISA kit for measuring Human in samples from biological fluids.

Human membrane attack complex,MAC ELISA Kit

CN-04250H1 96T
EUR 442

Human membrane attack complex,MAC ELISA Kit

CN-04250H2 48T
EUR 293

Human Membrane Attack Complex (MAC) ELISA Kit

abx350654-96tests 96 tests
EUR 668
  • Shipped within 5-12 working days.

Human membrane attack complex(MAC)ELISA Kit

GA-E0376HM-48T 48T
EUR 289

Human membrane attack complex(MAC)ELISA Kit

GA-E0376HM-96T 96T
EUR 466

Human membrane attack complex(MAC)ELISA Kit

QY-E02156 96T
EUR 361

Rabbit membrane attack complex(MAC)ELISA Kit

QY-E30025 96T
EUR 374

Polyclonal Integrin alpha-M (CD11b, MAC-1, OX-42 Antigen) Antibody

AMM06021G 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 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 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 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 1 plate of 96 wells
EUR 534
  • Gentaur's MAC ELISA kit utilizes the Sandwich-ELISA principle. The micro ELISA plate provided in this kit has been pre-coated with an antibody specific to Human MAC. Standards or samples are added to the micro ELISA plate wells and combined with the
  • Show more
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 48T
EUR 354
  • Protectin, a cell surface glycoprotein that regulates complement-mediated cell lysis, and it is involved in lymphocyte signal transduction. This protein is a potent inhibitor of the complement membrane attack complex, whereby it binds complement C8 a
  • Show more
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 5 plates of 96 wells
EUR 2252
  • Protectin, a cell surface glycoprotein that regulates complement-mediated cell lysis, and it is involved in lymphocyte signal transduction. This protein is a potent inhibitor of the complement membrane attack complex, whereby it binds complement C8 a
  • Show more
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 96T
EUR 572
  • Protectin, a cell surface glycoprotein that regulates complement-mediated cell lysis, and it is involved in lymphocyte signal transduction. This protein is a potent inhibitor of the complement membrane attack complex, whereby it binds complement C8 a
  • Show more
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: C11b/660

APG03040G 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 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 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 CD11b / MAC-1 (Microglial Marker) Antibody - With BSA and Azide, Clone: M1/70

AMM05473G 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 MAC-2-BP / LGALS3BP Antibody (clone 2B1), Clone: 2B1

AMM02212G 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 100ug
EUR 408

Recombinant Human CD59/ CD59A/ MAC-IP Protein, GST, E.coli-10ug

QP5791-ec-10ug 10ug
EUR 200

Recombinant Human CD59/ CD59A/ MAC-IP Protein, GST, E.coli-1mg

QP5791-ec-1mg 1mg
EUR 1632

Recombinant Human CD59/ CD59A/ MAC-IP Protein, GST, E.coli-200ug

QP5791-ec-200ug 200ug
EUR 634

Recombinant Human CD59/ CD59A/ MAC-IP Protein, GST, E.coli-500ug

QP5791-ec-500ug 500ug
EUR 1060

Recombinant Human CD59/ CD59A/ MAC-IP Protein, GST, E.coli-50ug

QP5791-ec-50ug 50ug
EUR 263

Recombinant Human CD59/ CD59A/ MAC-IP Protein, His, Yeast-100ug

QP5791-ye-100ug 100ug
EUR 480

Recombinant Human CD59/ CD59A/ MAC-IP Protein, His, Yeast-10ug

QP5791-ye-10ug 10ug
EUR 236

Recombinant Human CD59/ CD59A/ MAC-IP Protein, His, Yeast-1mg

QP5791-ye-1mg 1mg
EUR 1885

Recombinant Human CD59/ CD59A/ MAC-IP Protein, His, Yeast-200ug

QP5791-ye-200ug 200ug
EUR 744

Recombinant Human CD59/ CD59A/ MAC-IP Protein, His, Yeast-500ug

QP5791-ye-500ug 500ug
EUR 1206

Recombinant Human CD59/ CD59A/ MAC-IP Protein, His, Yeast-50ug

QP5791-ye-50ug 50ug
EUR 299

Neuregulin/Heregulin-1? (NRG-1?/HRG-1?), human recombinant protein

P1054-1 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 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 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 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
EUR 321

TAPI-1

2068-1
EUR 398

IDE-1

2193-1
EUR 147

PFI-1

2203-1
EUR 115

IQ-1

1663-1
EUR 204

Shz-1

1915-1
EUR 137

1-Azakenpaullone

1944-1
EUR 289

StemRegenin 1

1967-1
EUR 147

SANT-1

1978-1
EUR 126

4EGI-1

B2901-1
EUR 142

TAPI-1

B4686-1 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 1 mg
EUR 399

?1-MSH

B5427-1 1 mg
EUR 268