| 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 |
| Malin 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 authors conclude that laforin's principle function is to control glycogen chain lengths, in a malin-dependent fashion, and that loss of this control underlies Lafora disease. | Abnormal glycogen chain length pattern, not hyperphosphorylation, is critical in Lafora disease.
Nitschke F, Sullivan MA, Wang P, Zhao X, Chown EE, Perri AM, Israelian L, Juana-López L, Bovolenta P, Rodríguez de Córdoba S, Steup M, Minassian BA., Free PMC Article | 03/17/2018 |
| 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 |
| that laforin and malin are novel regulators of mitochondrial quality control pathway and that the mitochondrial dysfunction resulting from the increased Drp1 levels could underlie neuropathology in Lafora disease | Loss of laforin or malin results in increased Drp1 level and concomitant mitochondrial fragmentation in Lafora disease mouse models.
Upadhyay M, Agarwal S, Bhadauriya P, Ganesh S. | 02/24/2018 |
| Loss of malin leads to reduced proteasomal activity in the heat-shocked cells. | 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 |
| Results indicate that malin 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 |
| Dysfunction of autophagy is a common feature of both laforin- and malin-deficient mice. | Malin knockout mice support a primary role of autophagy in the pathogenesis of Lafora disease.
Knecht E, Criado-García O, Aguado C, Gayarre J, Duran-Trio L, Garcia-Cabrero AM, Vernia S, San Millán B, Heredia M, Romá-Mateo C, Mouron S, Juana-López L, Domínguez M, Navarro C, Serratosa JM, Sanchez M, Sanz P, Bovolenta P, Rodríguez de Córdoba S. | 11/17/2012 |
| 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 |
| Motor coordination, activity impairment, and memory deficits progressively increase with age in Epm2b 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 |
| Data conclude that EPM2B functions to maintain laforin associated with soluble glycogen and that its absence causes sequestration of laforin to an insoluble polysaccharide fraction where it is functionally inert. | Genetic depletion of the malin E3 ubiquitin ligase in mice leads to lafora bodies and the accumulation of insoluble laforin.
DePaoli-Roach AA, Tagliabracci VS, Segvich DM, Meyer CM, Irimia JM, Roach PJ., Free PMC Article | 09/6/2010 |
| 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 |