(Q34083706)

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Beta-III spectrin mutation L253P associated with spinocerebellar ataxia type 5 interferes with binding to Arp1 and protein trafficking from the Golgi.

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20603325%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Beta-III spectrin mutation L253P associated with spinocerebellar ataxia type 5 interferes with binding to Arp1 and protein trafficking from the Golgi (English)

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20603325%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

spinocerebellar ataxia type 5

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based on heuristic

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Alastair R. Lyndon

4

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20603325%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

author name string

Yvonne L Clarkson

1

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7 February 2020

Trudi Gillespie

2

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7 February 2020

Emma M Perkins

3

1 reference

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7 February 2020

Mandy Jackson

5

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7 February 2020

publication date

5 July 2010

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7 February 2020

Human Molecular Genetics

1 reference

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7 February 2020

19

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7 February 2020

18

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7 February 2020

3634-3641

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PMC publication ID

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7 February 2020

Loss of beta-III spectrin leads to Purkinje cell dysfunction recapitulating the behavior and neuropathology of spinocerebellar ataxia type 5 in humans.

1 reference

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Identification of human haploinsufficient genes and their genomic proximity to segmental duplications

1 reference

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Heterozygous deletion of ITPR1, but not SUMF1, in spinocerebellar ataxia type 16

1 reference

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28 July 2018

betaIV-spectrin forms a diffusion barrier against L1CAM at the axon initial segment

1 reference

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1 reference

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1 reference

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28 July 2018

Spectrin mutations cause spinocerebellar ataxia type 5.

1 reference

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1 reference

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28 July 2018

Spinocerebellar ataxia type 5: clinical and molecular genetic features of a German kindred.

1 reference

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28 July 2018

Roles of CHOP/GADD153 in endoplasmic reticulum stress

1 reference

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28 July 2018

Golgi localization of Syne-1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928133

28 July 2018

Simultaneous visualization of multiple protein interactions in living cells using multicolor fluorescence complementation analysis

1 reference

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28 July 2018

Surface expression of GluR-D AMPA receptor is dependent on an interaction between its C-terminal domain and a 4.1 protein

1 reference

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28 July 2018

Visualization of interactions among bZIP and Rel family proteins in living cells using bimolecular fluorescence complementation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928133

28 July 2018

[Beta]IV-spectrin regulates sodium channel clustering through ankyrin-G at axon initial segments and nodes of Ranvier

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928133

28 July 2018

beta III spectrin binds to the Arp1 subunit of dynactin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928133

28 July 2018

Spectrin and ankyrin-based pathways: metazoan inventions for integrating cells into tissues

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928133

28 July 2018

Modulation of the neuronal glutamate transporter EAAT4 by two interacting proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928133

28 July 2018

A widely expressed betaIII spectrin associated with Golgi and cytoplasmic vesicles

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928133

28 July 2018

A novel brain-specific isoform of beta spectrin: isolation and its interaction with Munc13

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928133

28 July 2018

Brain spectrin binding to the NMDA receptor is regulated by phosphorylation, calcium and calmodulin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928133

28 July 2018

Spectrin deficient inherited hemolytic anemias in the mouse: Characterization by spectrin synthesis and mRNA activity in reticulocytes

1 reference

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Synthesis and assembly of membrane skeletal proteins in mammalian red cell precursors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928133

28 July 2018

Point mutation in the beta-spectrin gene associated with alpha I/74 hereditary elliptocytosis. Implications for the mechanism of spectrin dimer self-association

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928133

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928133

28 July 2018

Self-association of human spectrin. A thermodynamic and kinetic study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928133

28 July 2018

The molecular structure of human erythrocyte spectrin

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ279

21 January 2018

Beta spectrin kissimmee: a spectrin variant associated with autosomal dominant hereditary spherocytosis and defective binding to protein 4.1.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ279

21 January 2018

Spectrin mutations that cause spinocerebellar ataxia type 5 impair axonal transport and induce neurodegeneration in Drosophila.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ279

21 January 2018

Mixed microtubules steer dynein-driven cargo transport into dendrites.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ279

21 January 2018

Regulation of AMPA receptor extrasynaptic insertion by 4.1N, phosphorylation and palmitoylation

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ279

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Dominance and gene dosage balance in health and disease: why levels matter!

1 reference

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Clinical and MRI findings in spinocerebellar ataxia type 5

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ279

21 January 2018

Glycophorin is linked by band 4.1 protein to the human erythrocyte membrane skeleton

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ279

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Increased ER stress during motor neuron degeneration in a transgenic mouse model of amyotrophic lateral sclerosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/20603325

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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10.1093/HMG/DDQ279

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20603325%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20603325%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20603325%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

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