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Showing 37 to 43 of 43 entries
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The E3 ligase malin plays a pivotal role in promoting nuclear glycogenolysis and histone acetylation.

Annals of translational medicine

Donohue KJ, Gentry MS, Sun RC.
PMID: 32309401
Ann Transl Med. 2020 Mar;8(5):254. doi: 10.21037/atm.2020.01.130.

No abstract available.

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Donohue KJ, Gentry MS, Sun RC. The E3 ligase malin plays a pivotal role in promoting nuclear glycogenolysis and histone acetylation. Ann Transl Med. 2020;8(5):254doi: 10.21037/atm.2020.01.130.
Donohue, K. J., Gentry, M. S., & Sun, R. C. (2020). The E3 ligase malin plays a pivotal role in promoting nuclear glycogenolysis and histone acetylation. Annals of translational medicine, 8(5), 254. https://doi.org/10.21037/atm.2020.01.130
Donohue, Katherine J, et al. "The E3 ligase malin plays a pivotal role in promoting nuclear glycogenolysis and histone acetylation." Annals of translational medicine vol. 8,5 (2020): 254. doi: https://doi.org/10.21037/atm.2020.01.130
Donohue KJ, Gentry MS, Sun RC. The E3 ligase malin plays a pivotal role in promoting nuclear glycogenolysis and histone acetylation. Ann Transl Med. 2020 Mar;8(5):254. doi: 10.21037/atm.2020.01.130. PMID: 32309401; PMCID: PMC7154454.
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A novel deletion mutation in .

Neurology Asia

Orooj F, Umm-E-Kalsoom, Zhao X, Ahmad A, Ahmed IN, Faheem M, Hassan MJ, Minasian BA.
PMID: 34733372
Neurol Asia. 2021 Jun;26(2):427-433.

Lafora body disease (MIM-254780), a glycogen storage disease, characterized by Lafora bodies (deformed glycogen molecules) accumulating in multiple organs, is a rare form of myoclonic epilepsy. It manifests in early adolescent years, initially with seizures and myoclonus, followed by...

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Orooj F, Umm-E-Kalsoom, Zhao X, et al. A novel deletion mutation in . Neurol Asia. 2021;26(2):427-433
Orooj, F., Umm-E-Kalsoom, Zhao, X., Ahmad, A., Ahmed, I. N., Faheem, M., Hassan, M. J., & Minasian, B. A. (2021). A novel deletion mutation in . Neurology Asia, 26(2), 427-433.
Orooj, Fizza, et al. "A novel deletion mutation in ." Neurology Asia vol. 26,2 (2021): 427-433.
Orooj F, Umm-E-Kalsoom, Zhao X, Ahmad A, Ahmed IN, Faheem M, Hassan MJ, Minasian BA. A novel deletion mutation in . Neurol Asia. 2021 Jun;26(2):427-433. PMID: 34733372; PMCID: PMC8562703.
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From Genetic Testing to Precision Medicine in Epilepsy.

Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics

Striano P, Minassian BA.
PMID: 31981099
Neurotherapeutics. 2020 Apr;17(2):609-615. doi: 10.1007/s13311-020-00835-4.

Epilepsy includes a number of medical conditions with recurrent seizures as common denominator. The large number of different syndromes and seizure types as well as the highly variable inter-individual response to the therapies makes management of this condition often...

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Striano P, Minassian BA. From Genetic Testing to Precision Medicine in Epilepsy. Neurotherapeutics. 2020;17(2):609-615doi: 10.1007/s13311-020-00835-4.
Striano, P., & Minassian, B. A. (2020). From Genetic Testing to Precision Medicine in Epilepsy. Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics, 17(2), 609-615. https://doi.org/10.1007/s13311-020-00835-4
Striano, Pasquale, and Minassian, Berge A. "From Genetic Testing to Precision Medicine in Epilepsy." Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics vol. 17,2 (2020): 609-615. doi: https://doi.org/10.1007/s13311-020-00835-4
Striano P, Minassian BA. From Genetic Testing to Precision Medicine in Epilepsy. Neurotherapeutics. 2020 Apr;17(2):609-615. doi: 10.1007/s13311-020-00835-4. PMID: 31981099; PMCID: PMC7283411.
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Diabetes Mellitus in a Patient With Lafora Disease: Possible Links With Pancreatic β-Cell Dysfunction and Insulin Resistance.

Frontiers in pediatrics

Nicolescu RC, Al-Khawaga S, Minassian BA, Hussain K.
PMID: 30701169
Front Pediatr. 2019 Jan 16;6:424. doi: 10.3389/fped.2018.00424. eCollection 2018.

Lafora disease (LD) is a rare autosomal recessive disorder characterized by progressive myoclonic epilepsy followed by continuous neurological decline, culminating in death within 10 years. LD leads to accumulation of insoluble, abnormal, glycogen-like structures called Lafora bodies (LBs). It...

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Nicolescu RC, Al-Khawaga S, Minassian BA, et al. Diabetes Mellitus in a Patient With Lafora Disease: Possible Links With Pancreatic β-Cell Dysfunction and Insulin Resistance. Front Pediatr. 2019;6:424doi: 10.3389/fped.2018.00424.
Nicolescu, R. C., Al-Khawaga, S., Minassian, B. A., & Hussain, K. (2018). Diabetes Mellitus in a Patient With Lafora Disease: Possible Links With Pancreatic β-Cell Dysfunction and Insulin Resistance. Frontiers in pediatrics, 6424. https://doi.org/10.3389/fped.2018.00424
Nicolescu, Ramona C, et al. "Diabetes Mellitus in a Patient With Lafora Disease: Possible Links With Pancreatic β-Cell Dysfunction and Insulin Resistance." Frontiers in pediatrics vol. 6 (2018): 424. doi: https://doi.org/10.3389/fped.2018.00424
Nicolescu RC, Al-Khawaga S, Minassian BA, Hussain K. Diabetes Mellitus in a Patient With Lafora Disease: Possible Links With Pancreatic β-Cell Dysfunction and Insulin Resistance. Front Pediatr. 2019 Jan 16;6:424. doi: 10.3389/fped.2018.00424. eCollection 2018. PMID: 30701169; PMCID: PMC6343460.
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SGK1 (glucose transport), dishevelled2 (wnt signaling), LC3/p62 (autophagy) and p53 (apoptosis) proteins are unaltered in Lafora disease.

The all results journals. Biol

Wang P, Israelian L, Xue Y, Song S, Attisano L, Minassian BA.
PMID: 29152446
All Results J Biol. 2016;7(3):28-33.

Glycogen forms through the concerted actions of glycogen synthase (GS) which elongates glycogen strands, and glycogen branching enzyme (GBE). Lafora disease (LD) is a fatal neurodegenerative epilepsy that results from neuronal accumulation of hyperphosphorylated glycogen with excessively long strands...

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Wang P, Israelian L, Xue Y, et al. SGK1 (glucose transport), dishevelled2 (wnt signaling), LC3/p62 (autophagy) and p53 (apoptosis) proteins are unaltered in Lafora disease. All Results J Biol. 2016;7(3):28-33
Wang, P., Israelian, L., Xue, Y., Song, S., Attisano, L., & Minassian, B. A. (2016). SGK1 (glucose transport), dishevelled2 (wnt signaling), LC3/p62 (autophagy) and p53 (apoptosis) proteins are unaltered in Lafora disease. The all results journals. Biol, 7(3), 28-33.
Wang, Peixiang, et al. "SGK1 (glucose transport), dishevelled2 (wnt signaling), LC3/p62 (autophagy) and p53 (apoptosis) proteins are unaltered in Lafora disease." The all results journals. Biol vol. 7,3 (2016): 28-33.
Wang P, Israelian L, Xue Y, Song S, Attisano L, Minassian BA. SGK1 (glucose transport), dishevelled2 (wnt signaling), LC3/p62 (autophagy) and p53 (apoptosis) proteins are unaltered in Lafora disease. All Results J Biol. 2016;7(3):28-33. PMID: 29152446; PMCID: PMC5693254.
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Lack of Neuronal Glycogen Impairs Memory Formation and Learning-Dependent Synaptic Plasticity in Mice.

Frontiers in cellular neuroscience

Duran J, Gruart A, Varea O, López-Soldado I, Delgado-García JM, Guinovart JJ.
PMID: 31456667
Front Cell Neurosci. 2019 Aug 13;13:374. doi: 10.3389/fncel.2019.00374. eCollection 2019.

Since brain glycogen is stored mainly in astrocytes, the role of this polysaccharide in neurons has been largely overlooked. To study the existence and relevance of an active neuronal glycogen metabolism

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Duran J, Gruart A, Varea O, et al. Lack of Neuronal Glycogen Impairs Memory Formation and Learning-Dependent Synaptic Plasticity in Mice. Front Cell Neurosci. 2019;13:374doi: 10.3389/fncel.2019.00374.
Duran, J., Gruart, A., Varea, O., López-Soldado, I., Delgado-García, J. M., & Guinovart, J. J. (2019). Lack of Neuronal Glycogen Impairs Memory Formation and Learning-Dependent Synaptic Plasticity in Mice. Frontiers in cellular neuroscience, 13374. https://doi.org/10.3389/fncel.2019.00374
Duran, Jordi, et al. "Lack of Neuronal Glycogen Impairs Memory Formation and Learning-Dependent Synaptic Plasticity in Mice." Frontiers in cellular neuroscience vol. 13 (2019): 374. doi: https://doi.org/10.3389/fncel.2019.00374
Duran J, Gruart A, Varea O, López-Soldado I, Delgado-García JM, Guinovart JJ. Lack of Neuronal Glycogen Impairs Memory Formation and Learning-Dependent Synaptic Plasticity in Mice. Front Cell Neurosci. 2019 Aug 13;13:374. doi: 10.3389/fncel.2019.00374. eCollection 2019. PMID: 31456667; PMCID: PMC6700221.
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Canine Lafora Disease: An Unstable Repeat Expansion Disorder.

Life (Basel, Switzerland)

von Klopmann T, Ahonen S, Espadas-Santiuste I, Matiasek K, Sanchez-Masian D, Rupp S, Vandenberghe H, Rose J, Wang T, Wang P, Minassian BA, Rusbridge C.
PMID: 34357061
Life (Basel). 2021 Jul 14;11(7). doi: 10.3390/life11070689.

Canine Lafora disease is a recessively inherited, rapidly progressing neurodegenerative disease caused by the accumulation of abnormally constructed insoluble glycogen Lafora bodies in the brain and other tissues due to the loss of NHL repeat containing E3 ubiquitin protein...

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von Klopmann T, Ahonen S, Espadas-Santiuste I, et al. Canine Lafora Disease: An Unstable Repeat Expansion Disorder. Life (Basel). 2021;11(7)doi: 10.3390/life11070689.
von Klopmann, T., Ahonen, S., Espadas-Santiuste, I., Matiasek, K., Sanchez-Masian, D., Rupp, S., Vandenberghe, H., Rose, J., Wang, T., Wang, P., Minassian, B. A., & Rusbridge, C. (2021). Canine Lafora Disease: An Unstable Repeat Expansion Disorder. Life (Basel, Switzerland), 11(7), . https://doi.org/10.3390/life11070689
von Klopmann, Thilo, et al. "Canine Lafora Disease: An Unstable Repeat Expansion Disorder." Life (Basel, Switzerland) vol. 11,7 (2021). doi: https://doi.org/10.3390/life11070689
von Klopmann T, Ahonen S, Espadas-Santiuste I, Matiasek K, Sanchez-Masian D, Rupp S, Vandenberghe H, Rose J, Wang T, Wang P, Minassian BA, Rusbridge C. Canine Lafora Disease: An Unstable Repeat Expansion Disorder. Life (Basel). 2021 Jul 14;11(7). doi: 10.3390/life11070689. PMID: 34357061; PMCID: PMC8304204.
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Showing 37 to 43 of 43 entries