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Inherited Degenerative Disorders

Inheritance is a prime antecedent of many neurodegenerative disorders. Primarily these disorders result from a genetic mutation or imbalance, passed from parent to child.

With autosomal dominance disease, a parent with the trait will pass on that mutation to half there offspring with an equal split between male and female sibs. The disease type   for example Huntington’s is most characterised as vertical transmitted appearing with each generation.

With autosomal recessive diseases, for example Cystic Fibrosis, both parents while clinically asymptomatic, must pass in combination, the mutation on to 25 % of the offspring. This is called horizontal transmission.

In polygenic diseases there is an interaction between genetic and non genetic factors in what can be complex ways e.g. diabetes, heart disease and cancer.

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Apolipoprotein E4 Antibody ; Mouse Anti-Apolipoprotein E4
Apolipoprotein E, a main apoprotein of the chylomicron, binds to a specific receptor on liver cells and peripheral cells and is essential for the normal catabolism of triglyceride-rich lipoprotein constituents.ApoE exists in three major isoforms; E2, E3, and E4, which differ from one another by a single amino-acid substitution. Individuals heterozygous for the ApoE4 allele are at higher risk of late-onset Alzheimer's disease. Defects in apolipoprotein E result in familial dysbetalipoproteinemia, or type III hyperlipoproteinemia (HLP III), in which increased levels of plasma cholesterol and triglycerides are the consequence of impaired clearance of chylomicron and VLDL remnants
£226.00

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Emerin Antibody - Goat Anti-Emerin
Emerin is a serine rich nuclear membrane protein and a member of the nuclear lamina associated protein family. It mediates membrane anchorage to the cytoskeleton. Dreifuss-Emery muscular dystrophy is an X-linked inherited degenerative myopathy resulting from mutation in the emerin gene
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Emerin Antibody- Rabbit Anti-Emerin
Emerin is a serine rich nuclear membrane protein and a member of the nuclear lamina associated protein family It mediates membrane anchorage to the cytoskeleton Dreifuss-Emery muscular dystrophy is an X-linked inherited degenerative myopathy resulting from mutation in the emerin gene
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Emerin Antibody- Sheep Anti-Emerin
Emerin is a serine rich nuclear membrane protein and a member of the nuclear lamina associated protein family. It mediates membrane anchorage to the cytoskeleton. Dreifuss-Emery muscular dystrophy is an X-linked inherited degenerative myopathy resulting from mutation in the emerin gene
£226.00

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hnRNP-C1/C2 Antibody- Mouse Anti-hnRNP-C1/C2
The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA) These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport While all of the hnRNPs are present in the nucleus some seem to shuttle between the nucleus and the cytoplasm The hnRNP proteins have distinct nucleic acid binding properties hnRNP C1 and C2 are encoded by one gene the two alternatively spliced transcript variants have been described
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hnRNP-C1/C2 Antibody- Mouse Anti-hnRNP-C1/C2
The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA) These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport While all of the hnRNPs are present in the nucleus some seem to shuttle between the nucleus and the cytoplasm The hnRNP proteins have distinct nucleic acid binding properties hnRNP C1 and C2 are encoded by one gene the two alternatively spliced transcript variants have been described
£183.00

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Lamin A Antibody - Mouse Anti-Lamin A
Nuclear lamins form a network of intermediate-type filaments at the nucleoplasmic site of the nuclear membrane Two main subtypes of nuclear lamins can be distinguished ie A type lamins and B type lamins The A type lamins comprise a set of three proteins arising from the same gene by alternative splicing ie lamin A lamin C and lamin Adel 10 while the B type lamins include two proteins arising from two distinct genes ie lamin B1 and lamin B2 Recent evidence has revealed that mutations in A-type lamins give rise to a range of rare but dominant genetic disorders including Emery-Dreifuss muscular dystrophy dilated cardiomyopathy with conduction-system disease and Dunnigan-type familial partial lipodystrophy In addition the expression of A type lamins coincides with cell differentiation and as A type lamins specifically interact with chromatin a role in the regulation of differential gene expression has been suggested for A type lamins
£183.00

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Lamin A Antibody- Mouse Anti-Lamin A
Nuclear lamins form a network of intermediate-type filaments at the nucleoplasmic site of the nuclear membrane Two main subtypes of nuclear lamins can be distinguished ie A type lamins and B type lamins The A type lamins comprise a set of three proteins arising from the same gene by alternative splicing ie lamin A lamin C and lamin Adel 10 while the B type lamins include two proteins arising from two distinct genes ie lamin B1 and lamin B2 Recent evidence has revealed that mutations in A-type lamins give rise to a range of rare but dominant genetic disorders including Emery-Dreifuss muscular dystrophy dilated cardiomyopathy with conduction-system disease and Dunnigan-type familial partial lipodystrophy In addition the expression of A type lamins coincides with cell differentiation and as A type lamins specifically interact with chromatin a role in the regulation of differential gene expression has been suggested for A type lamins
£226.00

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Lamin A Antibody- Mouse Anti-Lamin A
Nuclear lamins form a network of intermediate-type filaments at the nucleoplasmic site of the nuclear membrane Two main subtypes of nuclear lamins can be distinguished ie A type lamins and B type lamins The A type lamins comprise a set of three proteins arising from the same gene by alternative splicing ie lamin A lamin C and lamin Adel 10 while the B type lamins include two proteins arising from two distinct genes ie lamin B1 and lamin B2 Recent evidence has revealed that mutations in A-type lamins give rise to a range of rare but dominant genetic disorders including Emery-Dreifuss muscular dystrophy dilated cardiomyopathy with conduction-system disease and Dunnigan-type familial partial lipodystrophy In addition the expression of A type lamins coincides with cell differentiation and as A type lamins specifically interact with chromatin a role in the regulation of differential gene expression has been suggested for A type lamins
£183.00

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Lamin A/C - Mouse Anti-Lamin A/C
Nuclear Lamins form a network of intermediate-type filaments at the nucleoplasmic site of the nuclear membrane Two main subtypes of nuclear lamins can be distinguished ie A-type Lamins and B-type Lamins The A-type Lamins comprise a set of three proteins arising from the same gene by alternative splicing ie Lamin A Lamin C and Lamin Adel 10 while the B-type Lamins include two proteins arising from two distinct genes ie Lamin B1 and Lamin B2 Recent evidence has revealed that mutations in A-type Lamins give rise to a range of rare but dominant genetic disorders including Emery-Dreifuss muscular dystrophy dilated cardiomyopathy with conduction-system disease and Dunnigan-type familial partial lipodystrophy In addition the expression of A-type Lamins coincides with cell differentiation and as A-type Lamins specifically interact with chromatin a role in the regulation of differential gene expression has been suggested for A-type Lamins
£183.00

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Lamin A/C Antibody- Mouse Anti-Lamin A/C
Nuclear Lamins form a network of intermediate-type filaments at the nucleoplasmic site of the nuclear membrane Two main subtypes of nuclear lamins can be distinguished ie A-type Lamins and B-type Lamins The A-type Lamins comprise a set of three proteins arising from the same gene by alternative splicing ie Lamin A Lamin C and Lamin Adel 10 while the B-type Lamins include two proteins arising from two distinct genes ie Lamin B1 and Lamin B2 Recent evidence has revealed that mutations in A-type Lamins give rise to a range of rare but dominant genetic disorders including Emery-Dreifuss muscular dystrophy dilated cardiomyopathy with conduction-system disease and Dunnigan-type familial partial lipodystrophy In addition the expression of A-type Lamins coincides with cell differentiation and as A-type Lamins specifically interact with chromatin a role in the regulation of differential gene expression has been suggested for A-type Lamins
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Lamin A/C Antibody- Mouse Anti-Lamin A/C
Nuclear Lamins form a network of intermediate-type filaments at the nucleoplasmic site of the nuclear membrane Two main subtypes of nuclear lamins can be distinguished ie A-type Lamins and B-type Lamins The A-type Lamins comprise a set of three proteins arising from the same gene by alternative splicing ie Lamin A Lamin C and Lamin Adel 10 while the B-type Lamins include two proteins arising from two distinct genes ie Lamin B1 and Lamin B2 Recent evidence has revealed that mutations in A-type Lamins give rise to a range of rare but dominant genetic disorders including Emery-Dreifuss muscular dystrophy dilated cardiomyopathy with conduction-system disease and Dunnigan-type familial partial lipodystrophy In addition the expression of A-type Lamins coincides with cell differentiation and as A-type Lamins specifically interact with chromatin a role in the regulation of differential gene expression has been suggested for A-type Lamins
£183.00

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Lamin A/C Antibody- Mouse Anti-Lamin A/C
Nuclear Lamins form a network of intermediate-type filaments at the nucleoplasmic site of the nuclear membrane Two main subtypes of nuclear lamins can be distinguished ie A-type Lamins and B-type Lamins The A-type Lamins comprise a set of three proteins arising from the same gene by alternative splicing ie Lamin A Lamin C and Lamin Adel 10 while the B-type Lamins include two proteins arising from two distinct genes ie Lamin B1 and Lamin B2 Recent evidence has revealed that mutations in A-type Lamins give rise to a range of rare but dominant genetic disorders including Emery-Dreifuss muscular dystrophy dilated cardiomyopathy with conduction-system disease and Dunnigan-type familial partial lipodystrophy In addition the expression of A-type Lamins coincides with cell differentiation and as A-type Lamins specifically interact with chromatin a role in the regulation of differential gene expression has been suggested for A-type Lamins
£183.00

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Lamin A/C Antibody- Mouse Anti-Lamin A/C
Nuclear Lamins form a network of intermediate-type filaments at the nucleoplasmic site of the nuclear membrane Two main subtypes of nuclear lamins can be distinguished ie A-type Lamins and B-type Lamins The A-type Lamins comprise a set of three proteins arising from the same gene by alternative splicing ie Lamin A Lamin C and Lamin Adel 10 while the B-type Lamins include two proteins arising from two distinct genes ie Lamin B1 and Lamin B2 Recent evidence has revealed that mutations in A-type Lamins give rise to a range of rare but dominant genetic disorders including Emery-Dreifuss muscular dystrophy dilated cardiomyopathy with conduction-system disease and Dunnigan-type familial partial lipodystrophy In addition the expression of A-type Lamins coincides with cell differentiation and as A-type Lamins specifically interact with chromatin a role in the regulation of differential gene expression has been suggested for A-type Lamins
£226.00

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Lamin B1 + B2 Antibody- Mouse Anti-Lamin B1 + B2
Lamins are components of the nuclear lamina, a fibrous layer on the nucleoplasmic side of the inner nuclear membrane, which is thought to provide a framework for the nuclear envelope and may also interact with chromatin.
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Lamin B1 Antibody- Mouse Anti-Lamin B1
An important part of the nucleus is formed by nuclear lamina Nuclear lamins form a network of filaments at the nucleoplasmic site of the nuclear membrane Two main subtypes of nuclear lamins can be distinguished ie A type lamins and B type lamins The A type lamins comprise a set of three proteins arising from the same gene by alternative splicing ie lamin A lamin C and lamin Adel10 while the B-type lamins include two proteins arising from two distinct genes ie lamin B1 and lamin B2 The nuclear lamins comprise a unique subclass of the intermediate filament protein family They share a molecular domain organisation with the other intermediate filament proteins in that they are fibrous molecules that have an aminoterminal globular head a central rod of alpha helices and a carboxy terminal globular domain Many biochemical and molecular features of lamins have been studied but their functions remain still largely undetermined One of the functions ascribed to the lamina is the maintenance of the structural integrity of the nucleus Besides interactions with the nuclear membrane and other intermediate filaments lamins interact with the nuclear chromatin Eukaryotic chromatin is organised into loops which are attached to the nuclear matrix This organisation is thought to contribute to compaction of the chromatin and regulation of gene expression Lamins as part of the nuclear matrix may be involved in these processes since chromatin binding sites have been detected in both A and B type lamins
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