(Q36571667)

15 August 2017

Characterization of a rare Unverricht-Lundborg disease mutation (English)

1 reference

15 August 2017

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26937413%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

João Chaves

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26937413%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Olga Amaral

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26937413%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

author name string

Ana Joana Duarte

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26937413%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

publication date

5 August 2015

1 reference

Molecular Genetics and Metabolism Reports

15 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26937413%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

volume

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26937413%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

page(s)

68-71

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26937413%20AND%20SRC:MED&resulttype=core&format=json

REAP: A two minute cell fractionation method

31 May 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4750610

Stefin B interacts with histones and cathepsin L in the nucleus

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4750610

Cystatin B deficiency sensitizes neurons to oxidative stress in progressive myoclonus epilepsy, EPM1

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4750610

Cystatins: biochemical and structural properties, and medical relevance

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4750610

Clinical picture of EPM1-Unverricht-Lundborg disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4750610

Cathepsin B but not cathepsins L or S contributes to the pathogenesis of Unverricht-Lundborg progressive myoclonus epilepsy (EPM1)

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4750610

Lysosomal cysteine proteases: more than scavengers

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4750610

Differential localization of cysteine protease inhibitors and a target cysteine protease, cathepsin B, by immuno-confocal microscopy

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4750610

Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1)

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4750610

The cystatins: Protein inhibitors of cysteine proteinases

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4750610

Progressive myoclonus epilepsy: genetic and nosological aspects with special reference to 107 Finnish patients

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4750610

Increased expression of stefin B in the nucleus of T98G astrocytoma cells delays caspase activation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4750610

Fibroblast models of neurological disorders: fluorescence measurement studies.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4750610

Gain in toxic function of stefin B EPM1 mutants aggregates: correlation between cell death, aggregate number/size and oxidative stress.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4750610

Cystatin B as an intracellular modulator of bone resorption

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4750610

Reduced cystatin B activity correlates with enhanced cathepsin activity in progressive myoclonus epilepsy

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4750610

Cystatin B: mutation detection, alternative splicing and expression in progressive myclonus epilepsy of Unverricht-Lundborg type (EPM1) patients

21 September 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGMR.2015.07.005

Unverricht-Lundborg disease: homozygosity for a new splicing mutation in the cystatin B gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGMR.2015.07.005

Seizures induce widespread upregulation of cystatin B, the gene mutated in progressive myoclonus epilepsy, in rat forebrain neurons

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGMR.2015.07.005

Univerricht-Lundborg disease: underdiagnosed in the Netherlands

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGMR.2015.07.005

10.1016/J.YMGMR.2015.07.005

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26937413%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26937413%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26937413%20AND%20SRC:MED&resulttype=core&format=json