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Malin knockout mice support a primary role of autophagy in the pathogenesis of Lafora disease
- Source :
- Digital.CSIC. Repositorio Institucional del CSIC, instname
- Publication Year :
- 2012
- Publisher :
- Landes Bioscience, 2012.
-
Abstract
- Knecht, Erwin et al.<br />Lafora disease (LD), a fatal neurodegenerative disorder characterized by intracellular inclusions called Lafora bodies (LBs), is caused by recessive loss-of-function mutations in the genes encoding either laforin or malin. Previous studies suggested a role of these proteins in regulating glycogen biosynthesis, in glycogen dephosphorylation and in the modulation of intracellular proteolytic systems. However, the contribution of each of these processes to LD pathogenesis is unclear. Here we review our recent finding that dysfunction of autophagy is a common feature of both laforin- and malin-deficient mice, preceding other pathological manifestations. We propose that autophagy plays a primary role in LD pathogenesis and is a potential target for its treatment. © 2012 Landes Bioscience.<br />Spanish Ministry of Science and Innovation (SAF2008-00226 to SRdeC, BFU2010-16031 to PB; BFU2008-00186, SAF2008-01907, SAF2010-18586); the Red de Biobancos del FIS (RD09/0076/00011); the Fondo de Investigación Sanitaria (PI10/02628, PI070023); the Fundación Marato TV3 (Ref.100130); the Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER); Fundación Conchita Rábago
- Subjects :
- Ubiquitin-Protein Ligases
Biology
Models, Biological
Lafora disease
Pathogenesis
chemistry.chemical_compound
Mice
Laforin
medicine
Autophagy
Animals
Neurodegeneration
Molecular Biology
Mice, Knockout
Glycogen
Cell Biology
medicine.disease
Malin
Cell biology
Metabolism
Biochemistry
chemistry
Knockout mouse
Intracellular
Subjects
Details
- Database :
- OpenAIRE
- Journal :
- Digital.CSIC. Repositorio Institucional del CSIC, instname
- Accession number :
- edsair.doi.dedup.....2fad305deb767acc5028582b4dce3db0