(Q45106440)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15483648%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

title

Loss of lysosomal association of cystatin B proteins representing progressive myoclonus epilepsy, EPM1, mutations (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15483648%20AND%20SRC:MED&resulttype=core&format=json

progressive myoclonus epilepsy

4 January 2020

main subject

1 reference

2

1 reference

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4 January 2020

Gerrit-Jan de Haan

5

1 reference

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4 January 2020

Dick Lindhout

6

1 reference

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4 January 2020

Ulla Lahtinen

9

1 reference

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4 January 2020

author name string

Kirsi Alakurtti

1

1 reference

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4 January 2020

Riitta Rinne

3

1 reference

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4 January 2020

Gerit Theil

4

1 reference

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4 January 2020

Paula Salmikangas

7

1 reference

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4 January 2020

Pekka Saukko

8

1 reference

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4 January 2020

Anna-Elina Lehesjoki

10

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4 January 2020

publication date

1 February 2005

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15483648%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

4 January 2020

published in

1 reference

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4 January 2020

volume

13

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4 January 2020

page(s)

208-215

1 reference

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4 January 2020

issue

2

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https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201300

4 January 2020

exact match

0 references

cites work

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201300

Unstable insertion in the 5' flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201300

Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201300

Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201300

Characterization of the cystatin B gene promoter harboring the dodecamer repeat expanded in progressive myoclonus epilepsy, EPM1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201300

Unverricht-Lundborg disease with cystatin B gene abnormalities

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201300

Cystatin-like cysteine proteinase inhibitors from human liver

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201300

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201300

Progressive ataxia, myoclonic epilepsy and cerebellar apoptosis in cystatin B-deficient mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201300

Neuropathological changes in a mouse model of progressive myoclonus epilepsy: cystatin B deficiency and Unverricht-Lundborg disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201300

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201300

Human spleen cysteineproteinase inhibitor

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201300

Continuous cultures of fused cells secreting antibody of predefined specificity

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201300

Monoclonal antibodies against cathepsin L and procathepsin L of different species.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201300

A quantitative technique for growing human adult skeletal muscle in culture starting from mononucleated cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201300

Human aspartylglucosaminidase. A biochemical and immunocytochemical characterization of the enzyme in normal and aspartylglucosaminuria fibroblasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201300

Expression of aspartylglucosaminidase in human tissues from normal individuals and aspartylglucosaminuria patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201300

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201300

Nuclear localization of cystatin B, the cathepsin inhibitor implicated in myoclonus epilepsy (EPM1)

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201300

Cystatin-B is expressed by neural stem cells and by differentiated neurons and astrocytes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201300

The role of Gly-4 of human cystatin A (stefin A) in the binding of target proteinases. Characterization by kinetic and equilibrium methods of the interactions of cystatin A Gly-4 mutants with papain, cathepsin B, and cathepsin L

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201300

Role of the single cysteine residue, Cys 3, of human and bovine cystatin B (stefin B) in the inhibition of cysteine proteinases

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201300

Contributions of individual residues in the N-terminal region of cystatin B (stefin B) to inhibition of cysteine proteinases

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201300

New insights into the molecular basis of progressive myoclonus epilepsy: a multiprotein complex with cystatin B.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201300

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201300

7 January 2021

Univerricht-Lundborg disease: underdiagnosed in the Netherlands

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201300

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201300

7 January 2021

Importance of the second binding loop and the C-terminal end of cystatin B (stefin B) for inhibition of cysteine proteinases

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201300

7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5201300

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15483648%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

4 January 2020

0 references

1 reference