(Q37009004)

17 August 2017

1 reference

title

Molecular background of EPM1-Unverricht-Lundborg disease (English)

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17 August 2017

2

Anna-Elina Lehesjoki

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17 August 2017

Tarja Joensuu

1

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17 August 2017

Outi Kopra

series ordinal

3

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17 August 2017

publication date

19 November 2007

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17 August 2017

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17 August 2017

volume

49

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17 August 2017

issue

4

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17 August 2017

page(s)

557-563

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Loss of lysosomal association of cystatin B proteins representing progressive myoclonus epilepsy, EPM1, mutations.

17 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01422.X

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/10.1111%2FJ.1528-1167.2007.01422.X

Hairpin loop mutations of chicken cystatin have different effects on the inhibition of cathepsin B, cathepsin L and papain

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01422.X

Nomenclature and classification of the proteins homologous with the cysteine-proteinase inhibitor chicken cystatin.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01422.X

Novel cystatin B mutation and diagnostic PCR assay in an Unverricht-Lundborg progressive myoclonus epilepsy patient

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01422.X

G to C transversion at a splice acceptor site causes exon skipping in the cystatin B gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01422.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01422.X

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/10.1111%2FJ.1528-1167.2007.01422.X

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/10.1111%2FJ.1528-1167.2007.01422.X

A pathogenetic hypothesis of Unverricht-Lundborg disease onset and progression.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01422.X

Cystatin-like cysteine proteinase inhibitors from human liver

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01422.X

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/10.1111%2FJ.1528-1167.2007.01422.X

Cloning a synthetic gene for human stefin B and its expression in E. coli

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01422.X

Unverricht-Lundborg disease with cystatin B gene abnormalities

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01422.X

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/10.1111%2FJ.1528-1167.2007.01422.X

Cystatin B as an intracellular modulator of bone resorption

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01422.X

Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01422.X

A PCR amplification method reveals instability of the dodecamer repeat in progressive myoclonus epilepsy (EPM1) and no correlation between the size of the repeat and age at onset.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01422.X

Altered spacing of promoter elements due to the dodecamer repeat expansion contributes to reduced expression of the cystatin B gene in EPM1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01422.X

Localization of a gene for progressive myoclonus epilepsy to chromosome 21q22

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01422.X

Localization of the EPM1 gene for progressive myoclonus epilepsy on chromosome 21: linkage disequilibrium allows high resolution mapping

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01422.X

Isolation and characterization of the mouse cystatin B gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01422.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01422.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01422.X

Evolution of proteins of the cystatin superfamily

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01422.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01422.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01422.X

Amino acid sequence of the intracellular cysteine proteinase inhibitor cystatin B from human liver

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01422.X

Tetraplex formation by the progressive myoclonus epilepsy type-1 repeat: implications for instability in the repeat expansion diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01422.X

Structural organization of the gene encoding rat cystatin β

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01422.X

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/10.1111%2FJ.1528-1167.2007.01422.X

Construction of a 750-kb bacterial clone contig and restriction map in the region of human chromosome 21 containing the progressive myoclonus epilepsy gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01422.X

The cystatins: Protein inhibitors of cysteine proteinases

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01422.X

Lysosomal cysteine proteases: more than scavengers

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01422.X

Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01422.X

Human spleen cysteineproteinase inhibitor

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01422.X

The amino acid sequences, structure comparisons and inhibition kinetics of sheep cathepsin L and sheep stefin B

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01422.X

A new clinical and molecular form of Unverricht-Lundborg disease localized by homozygosity mapping

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01422.X

Classification of progressive myoclonus epilepsies and related disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01422.X

10.1111/J.1528-1167.2007.01422.X

21 January 2018

Identifiers

DOI

1 reference

17 August 2017

1 reference