Loss of function of the cytoplasmic isoform of the protein laforin (EPM2A) causes Lafora progressive myoclonus epilepsy

2004 ◽  
Vol 23 (2) ◽  
pp. 170-176 ◽  
Author(s):  
Leonarda Ianzano ◽  
Edwin J. Young ◽  
Xiao C. Zhao ◽  
Elayne M. Chan ◽  
M. T. Rodriguez ◽  
...  
Keyword(s):  
Loss Of Function ◽  
Progressive Myoclonus Epilepsy ◽  
Myoclonus Epilepsy

scholarly journals Altered Expression of Peroxiredoxins in Mouse Model of Progressive Myoclonus Epilepsy upon LPS-Induced Neuroinflammation

Antioxidants ◽  
2021 ◽  
Vol 10 (3) ◽  
pp. 357
Author(s):  
Mojca Trstenjak Prebanda ◽  
Petra Matjan-Štefin ◽  
Boris Turk ◽  
Nataša Kopitar-Jerala
Keyword(s):  
Mouse Model ◽  
Redox Homeostasis ◽  
Underlying Mechanism ◽  
Loss Of Function ◽  
Altered Expression ◽  
Lps Challenge ◽  
Progressive Myoclonus Epilepsy ◽  
Myoclonus Epilepsy ◽  
The Brain ◽  
Deficient Mice

Stefin B (cystatin B) is an inhibitor of endo-lysosomal cysteine cathepsin, and the loss-of-function mutations in the stefin B gene were reported in patients with Unverricht–Lundborg disease (EPM1), a form of progressive myoclonus epilepsy. Stefin B-deficient mice, a mouse model of the disease, display key features of EPM1, including myoclonic seizures. Although the underlying mechanism is not yet completely clear, it was reported that the impaired redox homeostasis and inflammation in the brain contribute to the progression of the disease. In the present study, we investigated if lipopolysaccharide (LPS)-triggered neuroinflammation affected the protein levels of redox-sensitive proteins: thioredoxin (Trx1), thioredoxin reductase (TrxR), peroxiredoxins (Prxs) in brain and cerebella of stefin B-deficient mice. LPS challenge was found to result in a marked elevation of Trx1 and TrxR in the brain and cerebella of stefin B deficient mice, while Prx1 was upregulated only in cerebella after LPS challenge. Mitochondrial peroxiredoxin 3 (Prx3), was upregulated also in the cerebellar tissue lysates prepared from unchallenged stefin B deficient mice, while after LPS challenge Prx3 was upregulated in stefin B deficient brain and cerebella. Our results imply the role of oxidative stress in the progression of the disease.

scholarly journals Lafora Disease: A Review of Molecular Mechanisms and Pathology

2018 ◽  
Vol 49 (06) ◽  
pp. 357-362 ◽  
Author(s):  
Brandy Verhalen ◽  
Susan Arnold ◽  
Berge Minassian
Keyword(s):  
Ubiquitin Ligase ◽  
Molecular Mechanisms ◽  
Neurodegenerative Disorder ◽  
Vegetative State ◽  
Glycogen Synthesis ◽  
Loss Of Function ◽  
Lafora Disease ◽  
Lafora Bodies ◽  
Progressive Myoclonus Epilepsy ◽  
Myoclonus Epilepsy

AbstractLafora's disease is a neurodegenerative disorder caused by recessive loss-of-function mutations in the EPM2A (laforin glycogen phosphatase) or EPM2B (malin E3 ubiquitin ligase) genes. Neuropathology is characterized by malformed precipitated glycogen aggregates termed Lafora bodies. Asymptomatic until adolescence, patients undergo first insidious then rapid progressive myoclonus epilepsy toward a vegetative state and death within a decade. Laforin and malin interact to regulate glycogen phosphorylation and chain length pattern, the latter critical to glycogen's solubility. Significant gaps remain in precise mechanistic understanding. However, demonstration that partial reduction in brain glycogen synthesis near-completely prevents the disease in its genetic animal models opens a direct present path to therapy.

A novel SCARB2 mutation in progressive myoclonus epilepsy indicated by reduced β-glucocerebrosidase activity

2014 ◽  
Vol 339 (1-2) ◽  
pp. 210-213 ◽  
Author(s):  
Marsha Zeigler ◽  
Vardiella Meiner ◽  
J.P. Newman ◽  
Bettina Steiner-Birmanns ◽  
Ruth Bargal ◽  
...  
Keyword(s):  
Progressive Myoclonus Epilepsy ◽  
Myoclonus Epilepsy

Lafora Progressive Myoclonus Epilepsy: Disease Course Homogeneity in a Genetic Isolate

2007 ◽  
Vol 23 (2) ◽  
pp. 240-242 ◽  
Author(s):  
Julie Turnbull ◽  
Santosh Kumar ◽  
Zhi-Ping Ren ◽  
Shanmugakonar Muralitharan ◽  
Taline Naranian ◽  
...  
Keyword(s):  
Disease Course ◽  
Genetic Isolate ◽  
Progressive Myoclonus Epilepsy ◽  
Myoclonus Epilepsy

PROGRESSIVE MYOCLONUS EPILEPSY

2009 ◽  
Vol 50 (3) ◽  
pp. 307-332 ◽  
Author(s):  
M. Koskiniemi ◽  
M. Donner ◽  
H. Majuri ◽  
M. Haltia ◽  
R. Norio
Keyword(s):  
Progressive Myoclonus Epilepsy ◽  
Myoclonus Epilepsy

scholarly journals Novel glycogen synthase kinase 3 and ubiquitination pathways in progressive myoclonus epilepsy

2005 ◽  
Vol 14 (18) ◽  
pp. 2727-2736 ◽  
Author(s):  
Hannes Lohi ◽  
Leonarda Ianzano ◽  
Xiao-Chu Zhao ◽  
Elayne M. Chan ◽  
Julie Turnbull ◽  
...  
Keyword(s):  
Glycogen Synthase ◽  
Glycogen Synthase Kinase ◽  
Glycogen Synthase Kinase 3 ◽  
Progressive Myoclonus Epilepsy ◽  
Myoclonus Epilepsy
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