Loss of lysosomal association of cystatin B proteins representing progressive myoclonus epilepsy, EPM1, mutations. - Wikidata - awgldk - TriplyDB

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

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

http://www.wikidata.org/entity/Q45106440

about

Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis Characterization of PTZ-induced seizure susceptibility in a down syndrome mouse model that overexpresses CSTB Genetics and epilepsy.Stefin B interacts with histones and cathepsin L in the nucleus Cystatin C rescues degenerating neurons in a cystatin B-knockout mouse model of progressive myoclonus epilepsy.Reversal of autophagy dysfunction in the TgCRND8 mouse model of Alzheimer's disease ameliorates amyloid pathologies and memory deficits Gene expression alterations in the cerebellum and granule neurons of Cstb(-/-) mouse are associated with early synaptic changes and inflammation.Gene-Expression Profiling Suggests Impaired Signaling via the Interferon Pathway in Cstb-/- Microglia Molecular background of EPM1-Unverricht-Lundborg disease.Cystatins in immune system.Impaired osteoclast homeostasis in the cystatin B-deficient mouse model of progressive myoclonus epilepsy.Intracellular aggregation of human stefin B: confocal and electron microscopy study.Biological and prognostic role of acid cysteine proteinase inhibitor (ACPI, cystatin A) in non-small-cell lung cancer.Stefin B deficiency reduces tumor growth via sensitization of tumor cells to oxidative stress in a breast cancer model.In vitro study of stability and amyloid-fibril formation of two mutants of human stefin B (cystatin B) occurring in patients with EPM1.Severer phenotype in Unverricht-Lundborg disease (EPM1) patients compound heterozygous for the dodecamer repeat expansion and the c.202C>T mutation in the CSTB gene.Electroclinical presentation and genotype-phenotype relationships in patients with Unverricht-Lundborg disease carrying compound heterozygous CSTB point and indel mutations.Dysfunctions in endosomal-lysosomal and autophagy pathways underlie neuropathology in a mouse model for Lafora disease.

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P2860

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

http://www.wikidata.org/entity/Q45106440

description

2005 nî lūn-bûn

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2005年の論文

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2005年学术文章

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2005年学术文章

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2005年学术文章

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2005年学术文章

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2005年学术文章

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2005年学术文章

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2005年學術文章

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2005年學術文章

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name

Loss of lysosomal association ...... nus epilepsy, EPM1, mutations.

@en

Loss of lysosomal association ...... nus epilepsy, EPM1, mutations.

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type

label

Loss of lysosomal association ...... nus epilepsy, EPM1, mutations.

@en

Loss of lysosomal association ...... nus epilepsy, EPM1, mutations.

@nl

prefLabel

Loss of lysosomal association ...... nus epilepsy, EPM1, mutations.

@en

Loss of lysosomal association ...... nus epilepsy, EPM1, mutations.

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SJ.EJHG.5201300

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European Journal of Human Genetics

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Loss of lysosomal association ...... onus epilepsy, EPM1, mutations

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P2093

Anna-Elina Lehesjoki

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Gerit Theil

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Kirsi Alakurtti

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Paula Salmikangas

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Pekka Saukko

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Riitta Rinne

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P2860

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

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

Continuous cultures of fused cells secreting antibody of predefined specificity

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

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

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

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

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

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

Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1

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sj.ejhg.5201300

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208-215

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10.1038/SJ.EJHG.5201300

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2

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Gerrit-Jan de Haan

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2005-02-01T00:00:00Z

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8232332

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