The clinical manifestations of neuronal intranuclear inclusion disease (NIID) are heterogeneous, and the premortem diagnosis is mainly based on skin biopsy findings. Abnormal GGC repeat expansions in NOTCH2NLC was recently identified in familial and sporadic NIID. The comparison of diagnostic value between abnormal GGC repeat expansions of NOTCH2NLC and skin biopsy has not been conducted yet.

In this study, skin biopsy was performed in 10 suspected adult NIID patients with clinical and imaging manifestations, and GGC repeat size in NOTCH2NLC was also screened by repeat primed-PCR and GC-rich PCR. We found that five cases had ubiquitin-immunolabelling intranuclear inclusion bodies by skin biopsy, and all of them were identified with abnormal GGC repeat expansions in NOTCH2NLC, among whom four patients showed typical linear hyperintensity at corticomedullary junction on DWI.

Five (5/10) NIID patients were diagnosed by combination of NOTCH2NLC gene detection, skin biopsy or combination of NOTCH2NLC, and typical MRI findings. The diagnostic performance of NOTCH2NLC gene detection was highly consistent with that of skin biopsy (Kappa = 1). The unexplained headache was firstly reported as a new early phenotype of NIID. These findings indicate that NOTCH2NLC gene detection is needed to be a supplement in the diagnose flow of NIID and also may be used as an alternative method to skin biopsy especially in Asian population.

 

digIS: towards detecting distant and putative novel insertion sequence elements in prokaryotic genomes

Background: The insertion sequence elements (IS elements) represent the smallest and the most abundant mobile elements in prokaryotic genomes. It has been shown that they play a significant role in genome organization and evolution. To better understand their function in the host genome, it is desirable to have an effective detection and annotation tool.

This need becomes even more crucial when considering rapid-growing genomic and metagenomic data. The existing tools for IS elements detection and annotation are usually based on comparing sequence similarity with a database of known IS families. Thus, they have limited ability to discover distant and putative novel IS elements.

Results: In this paper, we present digIS, a software tool based on profile hidden Markov models assembled from catalytic domains of transposases. It shows a very good performance in detecting known IS elements when tested on datasets with manually curated annotation. The main contribution of digIS is in its ability to detect distant and putative novel IS elements while maintaining a moderate level of false positives. In this category it outperforms existing tools, especially when tested on large datasets of archaeal and bacterial genomes.

Conclusion: We provide digIS, a software tool using a novel approach based on manually curated profile hidden Markov models, which is able to detect distant and putative novel IS elements. Although digIS can find known IS elements as well, we expect it to be used primarily by scientists interested in finding novel IS elements.

 

Gene Expression Changes in a Model Neuron Cell Line Exposed to Autoantibodies from Patients with Traumatic Brain Injury and/or Type 2 Diabetes

Traumatic brain injury and adult type 2 diabetes mellitus are each associated with the late occurrence of accelerated cognitive decline and Parkinson’s disease through unknown mechanisms. Previously, we reported increased circulating agonist autoantibodies targeting the 5-hydroxytryptamine 2A receptor in plasma from subsets of Parkinson’s disease, dementia, and diabetic patients suffering with microvascular complications.

Here, we use a model neuron, mouse neuroblastoma (N2A) cell line, to test messenger RNA expression changes following brief exposure to traumatic brain injury and/or type 2 diabetes mellitus plasma harboring agonist 5-hydroxytryptamine 2A receptor autoantibodies.

We now report involvement of the mitochondrial dysfunction pathway and Parkinson’s disease pathways in autoantibody-induced gene expression changes occurring in neuroblastoma cells. Functional gene categories upregulated significantly included cell death, cytoskeleton-microtubule function, actin polymerization or depolymerization, regulation of cell oxidative stress, mitochondrial function, immune function, protein metabolism, and vesicle function.

Gene categories significantly downregulated included microtubule function, cell adhesion, neurotransmitter release, dopamine metabolism synaptic plasticity, maintenance of neuronal differentiation, mitochondrial function, and cell signaling.

Taken together, these results suggest that agonist 5-hydroxytryptamine receptor autoantibodies (which increase in Parkinson’s disease and other forms of neurodegeneration) mediate a coordinating program of gene expression changes in a model neuron which predispose to neuro-apoptosis and are linked to human neurodegenerative diseases pathways.

Novel Alzheimer’s disease risk variants identified based on whole-genome sequencing of APOE ε4 carriers

Alzheimer’s disease (AD) is a progressive neurodegenerative disease associated with a complex genetic etiology. Besides the apolipoprotein E ε4 (APOE ε4) allele, a few dozen other genetic loci associated with AD have been identified through genome-wide association studies (GWAS) conducted mainly in individuals of European ancestry.

Recently, several GWAS performed in other ethnic groups have shown the importance of replicating studies that identify previously established risk loci and searching for novel risk loci. APOE-stratified GWAS have yielded novel AD risk loci that might be masked by, or be dependent on, APOE alleles.

We performed whole-genome sequencing (WGS) on DNA from blood samples of 331 AD patients and 169 elderly controls of Korean ethnicity who were APOE ε4 carriers. Based on WGS data, we designed a customized AD chip (cAD chip) for further analysis on an independent set of 543 AD patients and 894 elderly controls of the same ethnicity, regardless of their APOE ε4 allele status.

Combined analysis of WGS and cAD chip data revealed that SNPs rs1890078 (P = 6.64E-07) and rs12594991 (P = 2.03E-07) in SORCS1 and CHD2 genes, respectively, are novel genetic variants among APOE ε4 carriers in the Korean population.

In addition, nine possible novel variants that were rare in individuals of European ancestry but common in East Asia were identified. This study demonstrates that APOE-stratified analysis is important for understanding the genetic background of AD in different populations.

 

ECT2 Antibody
DF15648	Affbiotech	100ul	EUR 420

ECT2 Antibody
F53947-0.05ML	NSJ Bioreagents	0.05 ml	EUR 165

ECT2 Antibody
F53947-0.2ML	NSJ Bioreagents	0.2 ml	EUR 389

ECT2 Conjugated Antibody
C43917	SAB	100ul	EUR 476.4

Anti-ECT2 antibody
STJ70379	St John's Laboratory	100 µg	EUR 430.8

Mouse Protein ECT2, Ect2 ELISA KIT
ELI-32217m	Lifescience Market	96 Tests	EUR 1038

Human Protein ECT2, ECT2 ELISA KIT
ELI-09348h	Lifescience Market	96 Tests	EUR 988.8

ECT2 Peptide
45-517P	ProSci	0.1 mg	EUR 405.6
Description: ECT2 Peptide

ECT2 siRNA
20-abx914934	Abbexa	EUR 661.20 EUR 878.40	15 nmol 30 nmol

ECT2 siRNA
20-abx914935	Abbexa	EUR 661.20 EUR 878.40	15 nmol 30 nmol

ECT2 Antibody, HRP conjugated
1-CSB-PA888001LB01HU	Cusabio	EUR 380.40 EUR 402.00	100ug 50ug
Description: A polyclonal antibody against ECT2. Recognizes ECT2 from Human. This antibody is HRP conjugated. Tested in the following application: ELISA

ECT2 Antibody, FITC conjugated
1-CSB-PA888001LC01HU	Cusabio	EUR 380.40 EUR 402.00	100ug 50ug
Description: A polyclonal antibody against ECT2. Recognizes ECT2 from Human. This antibody is FITC conjugated. Tested in the following application: ELISA

ECT2 Antibody, Biotin conjugated
1-CSB-PA888001LD01HU	Cusabio	EUR 380.40 EUR 402.00	100ug 50ug
Description: A polyclonal antibody against ECT2. Recognizes ECT2 from Human. This antibody is Biotin conjugated. Tested in the following application: ELISA

ECT2 Blocking Peptide
33R-7035	Fitzgerald	100 ug	EUR 216
Description: A synthetic peptide for use as a blocking control in assays to test for specificity of ECT2 antibody, catalog no. 70R-5730

ECT2 Blocking Peptide
33R-4471	Fitzgerald	100 ug	EUR 216
Description: A synthetic peptide for use as a blocking control in assays to test for specificity of ECT2 antibody, catalog no. 70R-5714

pCMV-SPORT6-ECT2
PVT12957	Lifescience Market	2 ug	EUR 469.2

Monoclonal ECT2 Antibody, Clone: 1691CT516.3.3
AMM02569G	Leading Biology	0.1ml	EUR 580.8
Description: A Monoclonal antibody against Human ECT2. The antibodies are raised in Mouse and are from clone 1691CT516.3.3. This antibody is applicable in WB, E

Polyclonal Goat Anti-ECT2 Antibody
APG00096G	Leading Biology	0.1mg	EUR 580.8
Description: A polyclonal antibody raised in Goat that recognizes and binds to Human Goat Anti-ECT2 . This antibody is tested and proven to work in the following applications:

Anti-Phospho-ECT2 T790 Antibody
P01862	BosterBio	100ug	EUR 518.4
Description: Rabbit Polyclonal Phospho-ECT2 T790 Antibody. Validated in WB and tested in Human, Mouse, Rat.

Human ECT2 shRNA Plasmid
20-abx951320	Abbexa	EUR 961.20 EUR 1345.20	150 µg 300 µg

Mouse ECT2 shRNA Plasmid
20-abx970099	Abbexa	EUR 961.20 EUR 1345.20	150 µg 300 µg

Epithelial Cell Transforming Sequence 2 (ECT2) Antibody
20-abx104055	Abbexa	EUR 510.00 EUR 159.60 EUR 1446.00 EUR 693.60 EUR 393.60	100 ug 10 ug 1 mg 200 ug 50 ug

Epithelial Cell Transforming Sequence 2 (ECT2) Antibody
20-abx104056	Abbexa	EUR 510.00 EUR 159.60 EUR 1446.00 EUR 693.60 EUR 393.60	100 ug 10 ug 1 mg 200 ug 50 ug

Epithelial Cell Transforming Sequence 2 (ECT2) Antibody
abx028279-400ul	Abbexa	400 ul	EUR 627.6

Epithelial Cell Transforming Sequence 2 (ECT2) Antibody
abx028279-80l	Abbexa	80 µl	EUR 343.2

Epithelial Cell Transforming Sequence 2 (ECT2) Antibody
20-abx334431	Abbexa	EUR 493.20 EUR 2214.00 EUR 718.80 EUR 218.40 EUR 360.00	100 ug 1 mg 200 ug 20 ug 50 ug

Epithelial Cell Transforming Sequence 2 (ECT2) Antibody
abx432637-200ul	Abbexa	200 ul	EUR 460.8

Monoclonal ECT2 monoclonal antibody (M01), Clone: 5D4
AMM04340G	Leading Biology	0.1mg	EUR 580.8
Description: A Monoclonal antibody against Human ECT2 monoclonal (M01). The antibodies are raised in mouse and are from clone 5D4. This antibody is applicable in WB

ECT2 ORF Vector (Human) (pORF)
ORF018676	ABM	1.0 ug DNA	EUR 486

Ect2 ORF Vector (Mouse) (pORF)
ORF043598	ABM	1.0 ug DNA	EUR 607.2

Ect2 ORF Vector (Mouse) (pORF)
ORF043599	ABM	1.0 ug DNA	EUR 607.2

Ect2 ORF Vector (Mouse) (pORF)
ORF043600	ABM	1.0 ug DNA	EUR 607.2

Epithelial Cell Transforming Sequence 2 (ECT2) Antibody (HRP)
20-abx337249	Abbexa	EUR 493.20 EUR 2214.00 EUR 718.80 EUR 218.40 EUR 360.00	100 ug 1 mg 200 ug 20 ug 50 ug

Epithelial Cell Transforming Sequence 2 (ECT2) Antibody (FITC)
20-abx337250	Abbexa	EUR 493.20 EUR 2214.00 EUR 718.80 EUR 218.40 EUR 360.00	100 ug 1 mg 200 ug 20 ug 50 ug

Epithelial Cell Transforming Sequence 2 (ECT2) Antibody (Biotin)
20-abx337251	Abbexa	EUR 493.20 EUR 2214.00 EUR 718.80 EUR 218.40 EUR 360.00	100 ug 1 mg 200 ug 20 ug 50 ug

Epithelial Cell Transforming Sequence 2 (ECT2) Antibody (Biotin)
20-abx272498	Abbexa	EUR 543.60 EUR 292.80 EUR 1579.20 EUR 744.00 EUR 410.40	100 ug 10 ug 1 mg 200 ug 50 ug

ECT2 sgRNA CRISPR Lentivector set (Human)
K0652601	ABM	3 x 1.0 ug	EUR 406.8

Ect2 sgRNA CRISPR Lentivector set (Mouse)
K4451601	ABM	3 x 1.0 ug	EUR 406.8

Epithelial Cell Transforming Sequence 2 (ECT2) Polyclonal Antibody (Human)
4-PAC451Hu01	Cloud-Clone	EUR 296.40 EUR 3012.00 EUR 750.00 EUR 372.00 EUR 256.80	100ul 10ml 1ml 200ul 20ul
Description: A Rabbit polyclonal antibody against Human Epithelial Cell Transforming Sequence 2 (ECT2)

Epithelial Cell Transforming Sequence 2 (ECT2) Polyclonal Antibody (Human)
4-PAC451Hu02	Cloud-Clone	EUR 296.40 EUR 3012.00 EUR 750.00 EUR 372.00 EUR 256.80	100ul 10ml 1ml 200ul 20ul
Description: A Rabbit polyclonal antibody against Human Epithelial Cell Transforming Sequence 2 (ECT2)

ECT2 sgRNA CRISPR Lentivector (Human) (Target 1)
K0652602	ABM	1.0 ug DNA	EUR 184.8

ECT2 sgRNA CRISPR Lentivector (Human) (Target 2)
K0652603	ABM	1.0 ug DNA	EUR 184.8

ECT2 sgRNA CRISPR Lentivector (Human) (Target 3)
K0652604	ABM	1.0 ug DNA	EUR 184.8

Ect2 sgRNA CRISPR Lentivector (Mouse) (Target 1)
K4451602	ABM	1.0 ug DNA	EUR 184.8

Ect2 sgRNA CRISPR Lentivector (Mouse) (Target 2)
K4451603	ABM	1.0 ug DNA	EUR 184.8

Ect2 sgRNA CRISPR Lentivector (Mouse) (Target 3)
K4451604	ABM	1.0 ug DNA	EUR 184.8

ECT2 Protein Vector (Human) (pPB-C-His)
PV074701	ABM	500 ng	EUR 662.4

ECT2 Protein Vector (Human) (pPB-N-His)
PV074702	ABM	500 ng	EUR 662.4

ECT2 Protein Vector (Human) (pPM-C-HA)
PV074703	ABM	500 ng	EUR 662.4

ECT2 Protein Vector (Human) (pPM-C-His)
PV074704	ABM	500 ng	EUR 662.4

ECT2 Protein Vector (Mouse) (pPB-C-His)
PV174390	ABM	500 ng	EUR 1278

ECT2 Protein Vector (Mouse) (pPB-N-His)
PV174391	ABM	500 ng	EUR 1278

ECT2 Protein Vector (Mouse) (pPM-C-HA)
PV174392	ABM	500 ng	EUR 1278

ECT2 Protein Vector (Mouse) (pPM-C-His)
PV174393	ABM	500 ng	EUR 1278

ECT2 Protein Vector (Mouse) (pPB-C-His)
PV174394	ABM	500 ng	EUR 1278

ECT2 Protein Vector (Mouse) (pPB-N-His)
PV174395	ABM	500 ng	EUR 1278

ECT2 Protein Vector (Mouse) (pPM-C-HA)
PV174396	ABM	500 ng	EUR 1278

ECT2 Protein Vector (Mouse) (pPM-C-His)
PV174397	ABM	500 ng	EUR 1278

ECT2 Protein Vector (Mouse) (pPB-C-His)
PV174398	ABM	500 ng	EUR 1278

ECT2 Protein Vector (Mouse) (pPB-N-His)
PV174399	ABM	500 ng	EUR 1278

ECT2 Protein Vector (Mouse) (pPM-C-HA)
PV174400	ABM	500 ng	EUR 1278

ECT2 Protein Vector (Mouse) (pPM-C-His)
PV174401	ABM	500 ng	EUR 1278

Recombinant Epithelial Cell Transforming Sequence 2 (ECT2)
4-RPC451Hu01	Cloud-Clone	EUR 603.84 EUR 285.60 EUR 1934.40 EUR 724.80 EUR 1329.60 EUR 480.00 EUR 4656.00	100 ug 10ug 1 mg 200 ug 500 ug 50ug 5 mg
Description: Recombinant Human Epithelial Cell Transforming Sequence 2 expressed in: E.coli

Recombinant Epithelial Cell Transforming Sequence 2 (ECT2)
4-RPC451Hu02	Cloud-Clone	EUR 603.84 EUR 285.60 EUR 1934.40 EUR 724.80 EUR 1329.60 EUR 480.00 EUR 4656.00	100 ug 10ug 1 mg 200 ug 500 ug 50ug 5 mg
Description: Recombinant Human Epithelial Cell Transforming Sequence 2 expressed in: E.coli

Recombinant Epithelial Cell Transforming Sequence 2 (ECT2)
4-RPC451Mu01	Cloud-Clone	EUR 582.34 EUR 279.60 EUR 1853.76 EUR 697.92 EUR 1275.84 EUR 465.60 EUR 4454.40	100 ug 10ug 1 mg 200 ug 500 ug 50ug 5 mg
Description: Recombinant Mouse Epithelial Cell Transforming Sequence 2 expressed in: E.coli

ECT2 3'UTR Luciferase Stable Cell Line
TU006547	ABM	1.0 ml	EUR 2799.6

Ect2 3'UTR Luciferase Stable Cell Line
TU105588	ABM	1.0 ml	Ask for price

ECT2 3'UTR GFP Stable Cell Line
TU056547	ABM	1.0 ml	EUR 2799.6

Ect2 3'UTR GFP Stable Cell Line
TU155588	ABM	1.0 ml	Ask for price

Epithelial Cell Transforming Sequence 2 (ECT2) Polyclonal Antibody (Human), APC
4-PAC451Hu01-APC	Cloud-Clone	EUR 414.00 EUR 3930.00 EUR 1094.40 EUR 528.00 EUR 262.80	100ul 10ml 1ml 200ul 20ul
Description: A Rabbit polyclonal antibody against Human Epithelial Cell Transforming Sequence 2 (ECT2). This antibody is labeled with APC.

Epithelial Cell Transforming Sequence 2 (ECT2) Polyclonal Antibody (Human), Biotinylated
4-PAC451Hu01-Biotin	Cloud-Clone	EUR 373.20 EUR 2952.00 EUR 872.40 EUR 457.20 EUR 262.80	100ul 10ml 1ml 200ul 20ul
Description: A Rabbit polyclonal antibody against Human Epithelial Cell Transforming Sequence 2 (ECT2). This antibody is labeled with Biotin.

Epithelial Cell Transforming Sequence 2 (ECT2) Polyclonal Antibody (Human), Cy3
4-PAC451Hu01-Cy3	Cloud-Clone	EUR 502.80 EUR 5190.00 EUR 1410.00 EUR 654.00 EUR 301.20	100ul 10ml 1ml 200ul 20ul
Description: A Rabbit polyclonal antibody against Human Epithelial Cell Transforming Sequence 2 (ECT2). This antibody is labeled with Cy3.

Epithelial Cell Transforming Sequence 2 (ECT2) Polyclonal Antibody (Human), FITC
4-PAC451Hu01-FITC	Cloud-Clone	EUR 355.20 EUR 3168.00 EUR 900.00 EUR 446.40 EUR 234.00	100ul 10ml 1ml 200ul 20ul
Description: A Rabbit polyclonal antibody against Human Epithelial Cell Transforming Sequence 2 (ECT2). This antibody is labeled with FITC.

Epithelial Cell Transforming Sequence 2 (ECT2) Polyclonal Antibody (Human), HRP
4-PAC451Hu01-HRP	Cloud-Clone	EUR 379.20 EUR 3426.00 EUR 968.40 EUR 477.60 EUR 247.20	100ul 10ml 1ml 200ul 20ul
Description: A Rabbit polyclonal antibody against Human Epithelial Cell Transforming Sequence 2 (ECT2). This antibody is labeled with HRP.

Epithelial Cell Transforming Sequence 2 (ECT2) Polyclonal Antibody (Human), PE
4-PAC451Hu01-PE	Cloud-Clone	EUR 355.20 EUR 3168.00 EUR 900.00 EUR 446.40 EUR 234.00	100ul 10ml 1ml 200ul 20ul
Description: A Rabbit polyclonal antibody against Human Epithelial Cell Transforming Sequence 2 (ECT2). This antibody is labeled with PE.

Epithelial Cell Transforming Sequence 2 (ECT2) Polyclonal Antibody (Human), APC
4-PAC451Hu02-APC	Cloud-Clone	EUR 414.00 EUR 3930.00 EUR 1094.40 EUR 528.00 EUR 262.80	100ul 10ml 1ml 200ul 20ul
Description: A Rabbit polyclonal antibody against Human Epithelial Cell Transforming Sequence 2 (ECT2). This antibody is labeled with APC.

Epithelial Cell Transforming Sequence 2 (ECT2) Polyclonal Antibody (Human), Biotinylated
4-PAC451Hu02-Biotin	Cloud-Clone	EUR 373.20 EUR 2952.00 EUR 872.40 EUR 457.20 EUR 262.80	100ul 10ml 1ml 200ul 20ul
Description: A Rabbit polyclonal antibody against Human Epithelial Cell Transforming Sequence 2 (ECT2). This antibody is labeled with Biotin.

Epithelial Cell Transforming Sequence 2 (ECT2) Polyclonal Antibody (Human), Cy3
4-PAC451Hu02-Cy3	Cloud-Clone	EUR 502.80 EUR 5190.00 EUR 1410.00 EUR 654.00 EUR 301.20	100ul 10ml 1ml 200ul 20ul
Description: A Rabbit polyclonal antibody against Human Epithelial Cell Transforming Sequence 2 (ECT2). This antibody is labeled with Cy3.

Epithelial Cell Transforming Sequence 2 (ECT2) Polyclonal Antibody (Human), FITC
4-PAC451Hu02-FITC	Cloud-Clone	EUR 355.20 EUR 3168.00 EUR 900.00 EUR 446.40 EUR 234.00	100ul 10ml 1ml 200ul 20ul
Description: A Rabbit polyclonal antibody against Human Epithelial Cell Transforming Sequence 2 (ECT2). This antibody is labeled with FITC.

Epithelial Cell Transforming Sequence 2 (ECT2) Polyclonal Antibody (Human), HRP
4-PAC451Hu02-HRP	Cloud-Clone	EUR 379.20 EUR 3426.00 EUR 968.40 EUR 477.60 EUR 247.20	100ul 10ml 1ml 200ul 20ul
Description: A Rabbit polyclonal antibody against Human Epithelial Cell Transforming Sequence 2 (ECT2). This antibody is labeled with HRP.