Accès ouvert
2025
article
OpenAlex
Bárbara Márquez Tirado, Lucia Juana‐López, Elena Goicoechea de Jorge, Santiago Rodrı́guez de Córdoba et autres
Factor H-related proteins (FHRs) are found in mice, but their equivalence to human FHRs remains uncertain. This study identifies three FHRs in mouse plasma (FHR-B, FHR-C, and FHR-E) and focuses on characterizing FHR-B. Using purified plasma proteins and recombinant mutants, FHR-B was …
es
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Accès ouvert
2017
article
OpenAlex
Felix Nitschké, Mitchell Anthony Sullivan, Peixiang Wang, Xiaochu Zhao et autres
Lafora disease (LD) is a fatal progressive epilepsy essentially caused by loss-of-function mutations in the glycogen phosphatase laforin or the ubiquitin E3 ligase malin. Glycogen in LD is hyperphosphorylated and poorly hydrosoluble. It precipitates and accumulates into neurotoxic Lafora bodies (LBs). The …
ca, au, es, us
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Accès ouvert
2014
article
OpenAlex
Javier Machín Gayarre, Lara Durán-Trío, Olga Criado‐García, Carmen Aguado et autres
Lafora progressive myoclonus epilepsy (Lafora disease) is a fatal autosomal recessive neurodegenerative disorder characterized by the presence of glycogen-like intracellular inclusions called Lafora bodies. The vast majority of patients carry mutations in either the EPM2A or EPM2B genes, encoding laforin, a glucan …
es
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Accès ouvert
2012
erratum
OpenAlex
Erwin Knecht, Olga Criado‐García, Carmen Aguado, Javier Machín Gayarre et autres
In the Acknowledgments of our report we unintentionally omitted to include a sentence stating that J.G. holds a postdoctoral fellowship (JAE-Doc) from the Program “Junta para la Ampliación de Estud...
es, cu
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Accès ouvert
2012
article
OpenAlex
Erwin Knecht, Olga Criado‐García, Carmen Aguado, Javier Machín Gayarre et autres
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 …
es, cu
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Accès ouvert
2011
article
OpenAlex
Olga Criado‐García, Carmen Aguado, Javier Machín Gayarre, Lara Durán-Trío et autres
Lafora disease (LD), a fatal neurodegenerative disorder characterized by the presence of intracellular inclusions called Lafora bodies (LBs), is caused by loss-of-function mutations in laforin or malin. Previous studies suggested a role of these proteins in the regulation of glycogen biosynthesis, in …
es
(code pays fourni par la source)