| Epm2a[R240X] knock-in mice present earlier cognitive decline and more epileptic activity than Epm2a[-/-] mice. | Epm2a(R240X) knock-in mice present earlier cognitive decline and more epileptic activity than Epm2a(-/-) mice.
Burgos DF, Sciaccaluga M, Worby CA, Zafra-Puerta L, Iglesias-Cabeza N, Sánchez-Martín G, Prontera P, Costa C, Serratosa JM, Sánchez MP. | 05/17/2023 |
| Laforin targets malin to glycogen in Lafora progressive myoclonus epilepsy. | Laforin targets malin to glycogen in Lafora progressive myoclonus epilepsy.
Mitra S, Chen B, Wang P, Chown EE, Dear M, Guisso DR, Mariam U, Wu J, Gumusgoz E, Minassian BA., Free PMC Article | 02/4/2023 |
| Structural and Functional Brain Abnormalities in Mouse Models of Lafora Disease. | Structural and Functional Brain Abnormalities in Mouse Models of Lafora Disease.
Burgos DF, Cussó L, Sánchez-Elexpuru G, Calle D, Perpinyà MB, Desco M, Serratosa JM, Sánchez MP., Free PMC Article | 03/6/2021 |
| Laforin knockout mice develop Cardiac Hypertrophy and marked Systolic Dysfunction. Histological assessment showed abundant glycogen aggregates inside the cardiomyocytes, including typical Lafora bodies. | Lafora Disease Is an Inherited Metabolic Cardiomyopathy.
Villalba-Orero M, Sánchez-Elexpuru G, López-Olañeta M, Campuzano O, Bello-Arroyo E, García-Pavía P, Serratosa JM, Brugada R, Sánchez MP, Lara-Pezzi E., Free PMC Article | 06/1/2019 |
| The present study analyzes possible inflammatory responses in the mouse lines Epm2a (-/-) (laforin knock-out) and Epm2b (-/-) (malin knock-out) with disease progression. | Inflammation in Lafora Disease: Evolution with Disease Progression in Laforin and Malin Knock-out Mouse Models.
López-González I, Viana R, Sanz P, Ferrer I., Free PMC Article | 03/10/2018 |
| Laforin-silenced cells was able to induce autophagic flux, proteasomal activity and reduce the polyubiquitinated proteins by heat shock. | Loss of malin, but not laforin, results in compromised autophagic flux and proteasomal dysfunction in cells exposed to heat shock.
Jain N, Rai A, Mishra R, Ganesh S., Free PMC Article | 01/20/2018 |
| This study also suggests a malin function independent of laforin, possibly in lysosomal biogenesis and/or lysosomal glycogen disposal. | Protein degradation and quality control in cells from laforin and malin knockout mice.
Garyali P, Segvich DM, DePaoli-Roach AA, Roach PJ., Free PMC Article | 02/14/2015 |
| loss of laforin results in activation of serum/glucocorticoid-induced kinase 1 in cellular and animals models | Activation of serum/glucocorticoid-induced kinase 1 (SGK1) underlies increased glycogen levels, mTOR activation, and autophagy defects in Lafora disease.
Singh PK, Singh S, Ganesh S., Free PMC Article | 08/30/2014 |
| expression of Epm2a blocks formation of Lafora bodies and restores the impairment in macroautophagy, preventing the development of Lafora bodies in Epm2a-deficient mice. | The phosphatase activity of laforin is dispensable to rescue Epm2a-/- mice from Lafora disease.
Gayarre J, Duran-Trío L, Criado Garcia O, Aguado C, Juana-López L, Crespo I, Knecht E, Bovolenta P, Rodríguez de Córdoba S. | 05/31/2014 |
| in laforin-deficient mice, stress drastically accelerates Lafora bodies accumulation and Lafora disease. | Laforin prevents stress-induced polyglucosan body formation and Lafora disease progression in neurons.
Wang Y, Ma K, Wang P, Baba O, Zhang H, Parent JM, Zheng P, Liu Y, Minassian BA, Liu Y., Free PMC Article | 02/15/2014 |
| Results indicate that laforin has no effect on whole-body glucose metabolism and insulin sensitivity. | Laforin and malin knockout mice have normal glucose disposal and insulin sensitivity.
DePaoli-Roach AA, Segvich DM, Meyer CM, Rahimi Y, Worby CA, Gentry MS, Roach PJ., Free PMC Article | 11/24/2012 |
| malin functions to regulate laforin and that malin deficiency at least in part causes LB and LD through increased laforin binding to glycogen. | Increased laforin and laforin binding to glycogen underlie Lafora body formation in malin-deficient Lafora disease.
Tiberia E, Turnbull J, Wang T, Ruggieri A, Zhao XC, Pencea N, Israelian J, Wang Y, Ackerley CA, Wang P, Liu Y, Minassian BA., Free PMC Article | 10/20/2012 |
| Results show that a functional laforin-malin complex plays a critical role in disrupting Lafora bodies and relieving endoplasmic reticulum stres. | Laforin is required for the functional activation of malin in endoplasmic reticulum stress resistance in neuronal cells.
Zeng L, Wang Y, Baba O, Zheng P, Liu Y, Liu Y., Free PMC Article | 10/13/2012 |
| A detailed microscopic analysis of the neuropil of a Laforin-deficient (epm2a-/-) mouse model shows neurofibrillary degeneration and senile-like plaques prominent in the hippocampus and ventral pons. | Ontogeny of Lafora bodies and neurocytoskeleton changes in Laforin-deficient mice.
Machado-Salas J, Avila-Costa MR, Guevara P, Guevara J, Durón RM, Bai D, Tanaka M, Yamakawa K, Delgado-Escueta AV., Free PMC Article | 08/11/2012 |
| Motor coordination, activity impairment, and memory deficits progressively increase with age in Epm2a deficient mice. | Laforin and malin deletions in mice produce similar neurologic impairments.
García-Cabrero AM, Marinas A, Guerrero R, de Córdoba SR, Serratosa JM, Sánchez MP. | 06/16/2012 |
| These results define laforin as a new regulator of insulin sensitivity. | Laforin, a dual specificity phosphatase involved in Lafora disease, regulates insulin response and whole-body energy balance in mice.
Vernia S, Heredia M, Criado O, Rodriguez de Cordoba S, Garcia-Roves PM, Cansell C, Denis R, Luquet S, Foufelle F, Ferre P, Sanz P. | 10/22/2011 |
| laforin and malin play a role protecting cells from ER-stress, likely contributing to the elimination of unfolded proteins | Increased endoplasmic reticulum stress and decreased proteasomal function in lafora disease models lacking the phosphatase laforin.
Vernia S, Rubio T, Heredia M, Rodríguez de Córdoba S, Sanz P., Free PMC Article | 01/21/2010 |
| Study suggests that laforin is one of the critical regulators of Tau protein, that the NFTs could underlie some of the symptoms seen in Lafora disease. | Hyperphosphorylation and aggregation of Tau in laforin-deficient mice, an animal model for Lafora disease.
Puri R, Suzuki T, Yamakawa K, Ganesh S., Free PMC Article | 01/21/2010 |
| laforin functions to suppress excessive glycogen phosphorylation and is an essential component of the metabolism of normally structured glycogen, as shown in a mouse model | Abnormal metabolism of glycogen phosphate as a cause for Lafora disease.
Tagliabracci VS, Girard JM, Segvich D, Meyer C, Turnbull J, Zhao X, Minassian BA, Depaoli-Roach AA, Roach PJ., Free PMC Article | 01/21/2010 |
| laforin is a selective phosphatase for GSK-3beta and regulates cell cycle progression by GSK-3beta-dependent mechanisms and represses cyclin D1 expression | Laforin negatively regulates cell cycle progression through glycogen synthase kinase 3beta-dependent mechanisms.
Liu R, Wang L, Chen C, Liu Y, Zhou P, Wang Y, Wang X, Turnbull J, Minassian BA, Liu Y, Zheng P., Free PMC Article | 01/21/2010 |
| This study provides a molecular link between an observed biochemical property of laforin and the phenotype of a mouse model of Lafora disease. | Laforin is a glycogen phosphatase, deficiency of which leads to elevated phosphorylation of glycogen in vivo.
Tagliabracci VS, Turnbull J, Wang W, Girard JM, Zhao X, Skurat AV, Delgado-Escueta AV, Minassian BA, Depaoli-Roach AA, Roach PJ., Free PMC Article | 01/21/2010 |
| results demonstrate a critical role of dimerization in Laforin function and suggest an important new dimension in protein phosphatase function and in molecular pathogenesis of Lafora's disease | Dimerization of Laforin is required for its optimal phosphatase activity, regulation of GSK3beta phosphorylation, and Wnt signaling.
Liu Y, Wang Y, Wu C, Liu Y, Zheng P. | 01/21/2010 |
| Targeted disruption of the Epm2a gene causes formation of Lafora inclusion bodies, neurodegeneration, ataxia, myoclonus epilepsy and impaired behavioral response in mice | Targeted disruption of the Epm2a gene causes formation of Lafora inclusion bodies, neurodegeneration, ataxia, myoclonus epilepsy and impaired behavioral response in mice.
Ganesh S, Delgado-Escueta AV, Sakamoto T, Avila MR, Machado-Salas J, Hoshii Y, Akagi T, Gomi H, Suzuki T, Amano K, Agarwala KL, Hasegawa Y, Bai DS, Ishihara T, Hashikawa T, Itohara S, Cornford EM, Niki H, Yamakawa K. | 01/21/2010 |
| Inactivation of Epm2a resulted in increased Wnt signaling and tumorigenesis | Epm2a suppresses tumor growth in an immunocompromised host by inhibiting Wnt signaling.
Wang Y, Liu Y, Wu C, Zhang H, Zheng X, Zheng Z, Geiger TL, Nuovo GJ, Liu Y, Zheng P. | 01/21/2010 |