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Segregation and potential functional impact of a rare stop-gain PABPC4L variant in familial atypical Parkinsonism.
Segregation and potential functional impact of a rare stop-gain PABPC4L variant in familial atypical Parkinsonism. 

Segregation and potential functional impact of a rare stop-gain PABPC4L variant in familial atypical Parkinsonism.

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Atypical parkinsonian problems (APDs) comprise a group of neurodegenerative ailments with heterogeneous scientific and pathological options. Most APDs are sporadic, however rare familial kinds have additionally been reported.

Epidemiological and autopsy research related APDs with oxidative stress and mobile protein aggregates. Identifying molecular mechanisms that translate stress into poisonous protein aggregation and neurodegeneration in APDs is an energetic space of analysis. Recently, ribonucleic acid (RNA) stress granule (SG) pathways had been mentioned to be pathogenically related in a number of neurodegenerative problems together with APDs.

Using entire genome sequencing, mRNA expression evaluation, transfection assays and cell imaging, we investigated the genetic and molecular foundation of a familial neurodegenerative atypical parkinsonian dysfunction. We investigated a household with six dwelling members in two generations exhibiting scientific signs in step with atypical parkinsonism. Two affected relations suffered from parkinsonism that was related to ataxia. Magnetic resonance imaging (MRI) of these sufferers confirmed brainstem and cerebellar atrophy.

Whole genome sequencing recognized a heterozygous stop-gain variant (c.C811T; p.R271X) in the Poly(A) binding protein, cytoplasmic 4-like (PABPC4L) gene, which co-segregated with the illness in the household. In situ hybridization confirmed that the murine pabpc4l is expressed in a number of mind areas and in explicit in the cerebellum and brainstem.

To decide the functional impact of the stop-gain variant in the PABPC4L gene, we investigated the subcellular localization of PABPC4L in heterologous cells. Wild-type PABPC4L protein localized predominantly to the cell nucleus, in distinction to the truncated protein encoded by the stop-gain variant p.R271X, which was discovered homogeneously all through the cell. Interestingly, the wild-type, however not the truncated protein localized to RasGAP SH3 area Binding Protein (G3BP)-labeled cytoplasmic granules in response to oxidative stress induction.

Segregation and potential functional impact of a rare stop-gain PABPC4L variant in familial atypical Parkinsonism.
Segregation and potential functional impact of a rare stop-gain PABPC4L variant in familial atypical Parkinsonism.

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BNUB1602-500 1uL
EUR 485
Description: Primary and secondary antibodies for multiple methodologyimmunostaining detection application

CD56 / NCAM1 / NKH1 (Neuronal Cell Marker) (NCAM1/1496), 1mg/mL
BNUM1496-50 50uL
EUR 396
Description: Primary and secondary antibodies for multiple methodologyimmunostaining detection application

CD56 / NCAM1 / NKH1 (Neuronal Cell Marker)(ERIC-1), 1mg/mL
BNUM1602-50 1uL
EUR 396
Description: Primary and secondary antibodies for multiple methodologyimmunostaining detection application

Anti-CD56 / NCAM1 (Neuronal Cell Marker) Monoclonal Antibody
M00184 100ug/vial
EUR 476.4
Description: Mouse Monoclonal CD56 / NCAM1 (Neuronal Cell Marker) Antibody. Validated in Flow Cytometry and tested in Human, Rat, Zebrafish.

CD56 / NCAM1 / NKH1 (Neuronal Cell Marker) (NCAM1/2217R) Antibody
BNC802217-100 100uL
EUR 279.6
Description: Primary antibody against CD56 / NCAM1 / NKH1 (Neuronal Cell Marker) (NCAM1/2217R), CF680 conjugate, Concentration: 0.1mg/mL

CD56 / NCAM1 / NKH1 (Neuronal Cell Marker) (NCAM1/2217R) Antibody
BNC802217-500 500uL
EUR 654
Description: Primary antibody against CD56 / NCAM1 / NKH1 (Neuronal Cell Marker) (NCAM1/2217R), CF680 conjugate, Concentration: 0.1mg/mL

CD56 / NCAM1 / NKH1 (Neuronal Cell Marker) (NCAM1/2217R) Antibody
BNC812217-100 100uL
EUR 279.6
Description: Primary antibody against CD56 / NCAM1 / NKH1 (Neuronal Cell Marker) (NCAM1/2217R), CF680R conjugate, Concentration: 0.1mg/mL

CD56 / NCAM1 / NKH1 (Neuronal Cell Marker) (NCAM1/2217R) Antibody
BNC812217-500 500uL
EUR 654
Description: Primary antibody against CD56 / NCAM1 / NKH1 (Neuronal Cell Marker) (NCAM1/2217R), CF680R conjugate, Concentration: 0.1mg/mL

CD56 / NCAM1 / NKH1 (Neuronal Cell Marker) (NCAM1/2217R) Antibody
BNC052217-100 100uL
EUR 279.6
Description: Primary antibody against CD56 / NCAM1 / NKH1 (Neuronal Cell Marker) (NCAM1/2217R), CF405M conjugate, Concentration: 0.1mg/mL

CD56 / NCAM1 / NKH1 (Neuronal Cell Marker) (NCAM1/2217R) Antibody
BNC052217-500 500uL
EUR 654
Description: Primary antibody against CD56 / NCAM1 / NKH1 (Neuronal Cell Marker) (NCAM1/2217R), CF405M conjugate, Concentration: 0.1mg/mL

CD56 / NCAM1 / NKH1 (Neuronal Cell Marker) (NCAM1/2217R) Antibody
BNC432217-100 100uL
EUR 279.6
Description: Primary antibody against CD56 / NCAM1 / NKH1 (Neuronal Cell Marker) (NCAM1/2217R), CF543 conjugate, Concentration: 0.1mg/mL

CD56 / NCAM1 / NKH1 (Neuronal Cell Marker) (NCAM1/2217R) Antibody
BNC432217-500 500uL
EUR 654
Description: Primary antibody against CD56 / NCAM1 / NKH1 (Neuronal Cell Marker) (NCAM1/2217R), CF543 conjugate, Concentration: 0.1mg/mL

CD56 / NCAM1 / NKH1 (Neuronal Cell Marker) (NCAM1/2217R) Antibody
BNC552217-100 100uL
EUR 279.6
Description: Primary antibody against CD56 / NCAM1 / NKH1 (Neuronal Cell Marker) (NCAM1/2217R), CF555 conjugate, Concentration: 0.1mg/mL

CD56 / NCAM1 / NKH1 (Neuronal Cell Marker) (NCAM1/2217R) Antibody
BNC552217-500 500uL
EUR 654
Description: Primary antibody against CD56 / NCAM1 / NKH1 (Neuronal Cell Marker) (NCAM1/2217R), CF555 conjugate, Concentration: 0.1mg/mL

CD56 / NCAM1 / NKH1 (Neuronal Cell Marker) (NCAM1/2217R) Antibody
BNC702217-100 100uL
EUR 279.6
Description: Primary antibody against CD56 / NCAM1 / NKH1 (Neuronal Cell Marker) (NCAM1/2217R), CF770 conjugate, Concentration: 0.1mg/mL

CD56 / NCAM1 / NKH1 (Neuronal Cell Marker) (NCAM1/2217R) Antibody
BNC702217-500 500uL
EUR 654
Description: Primary antibody against CD56 / NCAM1 / NKH1 (Neuronal Cell Marker) (NCAM1/2217R), CF770 conjugate, Concentration: 0.1mg/mL

CD56 / NCAM1 / NKH1 (Neuronal Cell Marker) (NCAM1/2217R) Antibody
BNC612217-100 100uL
EUR 279.6
Description: Primary antibody against CD56 / NCAM1 / NKH1 (Neuronal Cell Marker) (NCAM1/2217R), CF660R conjugate, Concentration: 0.1mg/mL

CD56 / NCAM1 / NKH1 (Neuronal Cell Marker) (NCAM1/2217R) Antibody
BNC612217-500 500uL
EUR 654
Description: Primary antibody against CD56 / NCAM1 / NKH1 (Neuronal Cell Marker) (NCAM1/2217R), CF660R conjugate, Concentration: 0.1mg/mL

CD56 / NCAM1 / NKH1 (Neuronal Cell Marker) (NCAM1/2217R) Antibody
BNCH2217-100 100uL
EUR 279.6
Description: Primary antibody against CD56 / NCAM1 / NKH1 (Neuronal Cell Marker) (NCAM1/2217R), Horseradish Peroxidase conjugate, Concentration: 0.1mg/mL

CD56 / NCAM1 / NKH1 (Neuronal Cell Marker) (NCAM1/2217R) Antibody
BNCH2217-500 500uL
EUR 654
Description: Primary antibody against CD56 / NCAM1 / NKH1 (Neuronal Cell Marker) (NCAM1/2217R), Horseradish Peroxidase conjugate, Concentration: 0.1mg/mL

CD56 / NCAM1 / NKH1 (Neuronal Cell Marker) (NCAM1/2217R) Antibody
BNCP2217-250 250uL
EUR 472.8
Description: Primary antibody against CD56 / NCAM1 / NKH1 (Neuronal Cell Marker) (NCAM1/2217R), PerCP conjugate, Concentration: 0.1mg/mL

CD56 / NCAM1 / NKH1 (Neuronal Cell Marker) (NCAM1/2217R) Antibody
BNCR2217-250 250uL
EUR 472.8
Description: Primary antibody against CD56 / NCAM1 / NKH1 (Neuronal Cell Marker) (NCAM1/2217R), RPE conjugate, Concentration: 0.1mg/mL

CD56 / NCAM1 / NKH1 (Neuronal Cell Marker) (NCAM1/2217R) Antibody
BNCA2217-250 250uL
EUR 472.8
Description: Primary antibody against CD56 / NCAM1 / NKH1 (Neuronal Cell Marker) (NCAM1/2217R), APC conjugate, Concentration: 0.1mg/mL

CD56 / NCAM1 / NKH1 (Neuronal Cell Marker) (NCAM1/2217R) Antibody
BNCAP2217-100 100uL
EUR 279.6
Description: Primary antibody against CD56 / NCAM1 / NKH1 (Neuronal Cell Marker) (NCAM1/2217R), Alkaline Phosphatase conjugate, Concentration: 0.1mg/mL

CD56 / NCAM1 / NKH1 (Neuronal Cell Marker) (NCAM1/2217R) Antibody
BNCAP2217-500 500uL
EUR 654
Description: Primary antibody against CD56 / NCAM1 / NKH1 (Neuronal Cell Marker) (NCAM1/2217R), Alkaline Phosphatase conjugate, Concentration: 0.1mg/mL

CD56 / NCAM1 / NKH1 (Neuronal Cell Marker) (NCAM1/2217R) Antibody
BNUB2217-50 50uL
EUR 486
Description: Primary antibody against CD56 / NCAM1 / NKH1 (Neuronal Cell Marker) (NCAM1/2217R), 1mg/mL

CD56 / NCAM1 / NKH1 (Neuronal Cell Marker) (NCAM1/2217R), 1mg/mL
BNUM2217-50 1uL
EUR 396
Description: Primary and secondary antibodies for multiple methodologyimmunostaining detection application

CD56 / NCAM1 / NKH1 (Neuronal Cell Marker) (NCAM1/2217R), 0.2mg/mL
BNUB2217-100 100uL
EUR 225
Description: Primary and secondary antibodies for multiple methodologyimmunostaining detection application

CD56 / NCAM1 / NKH1 (Neuronal Cell Marker) (NCAM1/2217R), 0.2mg/mL
BNUB2217-500 500uL
EUR 485
Description: Primary and secondary antibodies for multiple methodologyimmunostaining detection application

HighQC™ Human Neuronal Stem Cell (Hypothalamic)
ABC-SC0070 1 vial Ask for price
Description: Human Neuronal Stem Cell (Hypothalamic); Frozen Vial and Plated cells are available. Cells are only guaranteed with purchase of Gentaur Media and Gentaur Extra Cellular Matrix for appropriate cell culture, for 30 days from the date of shipment.

Neuronal Marker, Pan
MBS6008858-01mL 0.1(mL
EUR 910

Neuronal Marker, Pan
MBS6008858-5x01mL 5x0.1mL
EUR 3950

CD56 / NCAM1 / NKH1 (Neuronal Cell Marker) Mouse Monoclonal Antibody
MBS438519-002mgWithBSAAzideat02mgmL 0.02mg(WithBSA&Azideat0.2mg/mL)
EUR 230

CD56 / NCAM1 / NKH1 (Neuronal Cell Marker) Mouse Monoclonal Antibody
MBS438519-01mgWithBSAAzideat02mgmL 0.1mg(WithBSA&Azideat0.2mg/mL)
EUR 405

CD56 / NCAM1 / NKH1 (Neuronal Cell Marker) Mouse Monoclonal Antibody
MBS438519-01mgWithoutBSAAzideat1mgmL 0.1mg(WithoutBSA&Azideat1mg/mL)
EUR 405

CD56 / NCAM1 / NKH1 (Neuronal Cell Marker) Mouse Monoclonal Antibody
MBS438519-5x01mgWithBSAAzideat02mgmL 5x0.1mg(WithBSA&Azideat0.2mg/mL)
EUR 1725

CD56 / NCAM1 / NKH1 (Neuronal Cell Marker) Mouse Monoclonal Antibody
MBS438519-5x01mgWithoutBSAAzideat1mgmL 5x0.1mg(WithoutBSA&Azideat1mg/mL)
EUR 1725

CD56 / NCAM1 / NKH1 (Neuronal Cell Marker) Mouse Monoclonal Antibody
MBS439343-002mgWithBSAAzideat02mgmL 0.02mg(WithBSA&Azideat0.2mg/mL)
EUR 230

CD56 / NCAM1 / NKH1 (Neuronal Cell Marker) Mouse Monoclonal Antibody
MBS439343-01mgWithBSAAzideat02mgmL 0.1mg(WithBSA&Azideat0.2mg/mL)
EUR 405

CD56 / NCAM1 / NKH1 (Neuronal Cell Marker) Mouse Monoclonal Antibody
MBS439343-01mgWithoutBSAAzideat1mgmL 0.1mg(WithoutBSA&Azideat1mg/mL)
EUR 405

CD56 / NCAM1 / NKH1 (Neuronal Cell Marker) Mouse Monoclonal Antibody
MBS439343-5x01mgWithBSAAzideat02mgmL 5x0.1mg(WithBSA&Azideat0.2mg/mL)
EUR 1725

CD56 / NCAM1 / NKH1 (Neuronal Cell Marker) Mouse Monoclonal Antibody
MBS439343-5x01mgWithoutBSAAzideat1mgmL 5x0.1mg(WithoutBSA&Azideat1mg/mL)
EUR 1725

CD56 / NCAM1 / NKH1 (Neuronal Cell Marker) Mouse Monoclonal Antibody
MBS438078-002mgWithBSAAzideat02mgmL 0.02mg(WithBSA&Azideat0.2mg/mL)
EUR 230

CD56 / NCAM1 / NKH1 (Neuronal Cell Marker) Mouse Monoclonal Antibody
MBS438078-01mgWithBSAAzideat02mgmL 0.1mg(WithBSA&Azideat0.2mg/mL)
EUR 405

CD56 / NCAM1 / NKH1 (Neuronal Cell Marker) Mouse Monoclonal Antibody
MBS438078-01mgWithoutBSAAzideat1mgmL 0.1mg(WithoutBSA&Azideat1mg/mL)
EUR 405

CD56 / NCAM1 / NKH1 (Neuronal Cell Marker) Mouse Monoclonal Antibody
MBS438078-5x01mgWithBSAAzideat02mgmL 5x0.1mg(WithBSA&Azideat0.2mg/mL)
EUR 1725

CD56 / NCAM1 / NKH1 (Neuronal Cell Marker) Mouse Monoclonal Antibody
MBS438078-5x01mgWithoutBSAAzideat1mgmL 5x0.1mg(WithoutBSA&Azideat1mg/mL)
EUR 1725

CD56 / NCAM1 / NKH1 (Neuronal Cell Marker) Mouse Monoclonal Antibody
MBS438150-002mgWithBSAAzideat02mgmL 0.02mg(WithBSA&Azideat0.2mg/mL)
EUR 230

CD56 / NCAM1 / NKH1 (Neuronal Cell Marker) Mouse Monoclonal Antibody
MBS438150-01mgWithBSAAzideat02mgmL 0.1mg(WithBSA&Azideat0.2mg/mL)
EUR 405

CD56 / NCAM1 / NKH1 (Neuronal Cell Marker) Mouse Monoclonal Antibody
MBS438150-01mgWithoutBSAAzideat1mgmL 0.1mg(WithoutBSA&Azideat1mg/mL)
EUR 405

CD56 / NCAM1 / NKH1 (Neuronal Cell Marker) Mouse Monoclonal Antibody
MBS438150-5x01mgWithBSAAzideat02mgmL 5x0.1mg(WithBSA&Azideat0.2mg/mL)
EUR 1725

CD56 / NCAM1 / NKH1 (Neuronal Cell Marker) Mouse Monoclonal Antibody
MBS438150-5x01mgWithoutBSAAzideat1mgmL 5x0.1mg(WithoutBSA&Azideat1mg/mL)
EUR 1725

CD56 / NCAM1 / NKH1 (Neuronal Cell Marker) Mouse Monoclonal Antibody
MBS438230-002mgWithBSAAzideat02mgmL 0.02mg(WithBSA&Azideat0.2mg/mL)
EUR 230

CD56 / NCAM1 / NKH1 (Neuronal Cell Marker) Mouse Monoclonal Antibody
MBS438230-01mgWithBSAAzideat02mgmL 0.1mg(WithBSA&Azideat0.2mg/mL)
EUR 405

CD56 / NCAM1 / NKH1 (Neuronal Cell Marker) Mouse Monoclonal Antibody
MBS438230-01mgWithoutBSAAzideat1mgmL 0.1mg(WithoutBSA&Azideat1mg/mL)
EUR 405

CD56 / NCAM1 / NKH1 (Neuronal Cell Marker) Mouse Monoclonal Antibody
MBS438230-5x01mgWithBSAAzideat02mgmL 5x0.1mg(WithBSA&Azideat0.2mg/mL)
EUR 1725

CD56 / NCAM1 / NKH1 (Neuronal Cell Marker) Mouse Monoclonal Antibody
MBS438230-5x01mgWithoutBSAAzideat1mgmL 5x0.1mg(WithoutBSA&Azideat1mg/mL)
EUR 1725

CD56 / NCAM1 / NKH1 (Neuronal Cell Marker) Mouse Monoclonal Antibody
MBS438366-002mgWithBSAAzideat02mgmL 0.02mg(WithBSA&Azideat0.2mg/mL)
EUR 230

CD56 / NCAM1 / NKH1 (Neuronal Cell Marker) Mouse Monoclonal Antibody
MBS438366-01mgWithBSAAzideat02mgmL 0.1mg(WithBSA&Azideat0.2mg/mL)
EUR 405

CD56 / NCAM1 / NKH1 (Neuronal Cell Marker) Mouse Monoclonal Antibody
MBS438366-01mgWithoutBSAAzideat1mgmL 0.1mg(WithoutBSA&Azideat1mg/mL)
EUR 405

CD56 / NCAM1 / NKH1 (Neuronal Cell Marker) Mouse Monoclonal Antibody
MBS438366-5x01mgWithBSAAzideat02mgmL 5x0.1mg(WithBSA&Azideat0.2mg/mL)
EUR 1725

CD56 / NCAM1 / NKH1 (Neuronal Cell Marker) Mouse Monoclonal Antibody
MBS438366-5x01mgWithoutBSAAzideat1mgmL 5x0.1mg(WithoutBSA&Azideat1mg/mL)
EUR 1725

Rabbit Polyclonal Antibody against UCHL1 (PGP9.5) - Neuronal Marker - Neuronal Marker
TA301477 100 µl Ask for price

HighQC™ Rat Hypogastric Plexus Neuronal Stem Cell
ABC-SC0016 1 vial Ask for price
Description: Rat Hypogastric Plexus Neuronal Stem Cells; Frozen Vial and Plated cells are available. Cells are only guaranteed with purchase of Gentaur Media and Gentaur Extra Cellular Matrix for appropriate cell culture, for 30 days from the date of shipment.

HighQC™ Human Neuronal Progenitor Stem Cell
ABC-SC0073 1 vial Ask for price
Description: Human Neuronal Progenitor Stem Cell; Frozen Vial and Plated cells are available. Cells are only guaranteed with purchase of Gentaur Media and Gentaur Extra Cellular Matrix for appropriate cell culture, for 30 days from the date of shipment.

Monoclonal CD56 / NCAM1 (Neuronal Cell Marker) Antibody, Clone: SPM128
APG03047G 7 ml
EUR 580.8
Description: A Monoclonal antibody against Human CD56 / NCAM1 (Neuronal Cell Marker). The antibodies are raised in Mouse and are from clone SPM128. This antibody is applicable in IHC, IF, FC

HighQC™ Human Neuronal Stem Cell (Ventricle Derived)
ABC-SC0069 1 vial Ask for price
Description: Human Neuronal Stem Cell (Ventricle Derived); Frozen Vial and Plated cells are available. Cells are only guaranteed with purchase of Gentaur Media and Gentaur Extra Cellular Matrix for appropriate cell culture, for 30 days from the date of shipment.

CD56 / NCAM1 / NKH1 (Neuronal Cell Marker); Clone 123C3.D5 (Concentrate)
RA0237-C.1 0.1 ml
EUR 60.07

CD56 / NCAM1 / NKH1 (Neuronal Cell Marker); Clone 123C3.D5 (Concentrate)
RA0237-C.5 0.5 ml
EUR 200.66

CD56 / NCAM1 / NKH1 (Neuronal Cell Marker); Clone NKH1/784 (Concentrate)
RA0240-C.1 0.1 ml
EUR 60.07

CD56 / NCAM1 / NKH1 (Neuronal Cell Marker); Clone NKH1/784 (Concentrate)
RA0240-C.5 0.5 ml
EUR 200.66

CD56 / NCAM1 / NKH1 (Neuronal Cell Marker); Clone NKH1/795 (Concentrate)
RA0241-C.1 0.1 ml
EUR 60.07

CD56 / NCAM1 / NKH1 (Neuronal Cell Marker); Clone NKH1/795 (Concentrate)
RA0241-C.5 0.5 ml
EUR 200.66

HighQC™ Mouse Hypogastric Plexus Neuronal Stem Cell
ABC-SC0040 1 vial Ask for price
Description: Mouse Hypogastric Plexus Neuronal Stem Cells; Frozen Vial and Plated cells are available. Cells are only guaranteed with purchase of Gentaur Media and Gentaur Extra Cellular Matrix for appropriate cell culture, for 30 days from the date of shipment.

HighQC™ Human Hypogastric Plexus Neuronal Stem Cell
ABC-SC0095 1 vial Ask for price
Description: Human Hypogastric Plexus Neuronal Stem Cell; Frozen Vial and Plated cells are available. Cells are only guaranteed with purchase of Gentaur Media and Gentaur Extra Cellular Matrix for appropriate cell culture, for 30 days from the date of shipment.

HighQC™ Human Neuronal Stem Cell (Hippocampus Derived)
ABC-SC2097 1 vial Ask for price
Description: The Human Neuronal Stem Cells (Hippocampus) was derived from Adult Human Brain (Hippocampus). They were maintained in Gentaur's Human Neuronal Stem Cells (Hippocampus)Complete Growth Medium and sub-cultured every 24 to 48 hours on Human Neuronal Stem Cells (Hippocampus) Extracellular Matrix

Neuronal Marker, Pan (AP)
MBS6269880-01mL 0.1mL
EUR 1190

Neuronal Marker, Pan (AP)
MBS6269880-5x01mL 5x0.1mL
EUR 5215

Neuronal Marker, Pan (PE)
MBS6269890-01mL 0.1mL
EUR 1190

This means that the PABPC4L variant alters intracellular distribution and presumably the stress granule related operate of the protein, which can underlie APD in this household. In conclusion, we current genetic and molecular proof supporting the function of a stop-gain PABPC4L variant in a rare familial APD. Our information exhibits that the variant outcomes in mobile mislocalization and incapacity of the protein to affiliate with stress granules.

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