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  1. Article ; Online: Two Diseases-One Preclinical Treatment Targeting Glycogen Synthesis.

    Gentry, Matthew S / Markussen, Kia H / Donohue, Katherine J

    Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics

    2022  Volume 19, Issue 3, Page(s) 977–981

    MeSH term(s) Glycogen ; Muscle, Skeletal
    Chemical Substances Glycogen (9005-79-2)
    Language English
    Publishing date 2022-04-22
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Comment
    ZDB-ID 2316693-9
    ISSN 1878-7479 ; 1933-7213
    ISSN (online) 1878-7479
    ISSN 1933-7213
    DOI 10.1007/s13311-022-01240-9
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  2. Article: Brain Glycogen Structure and Its Associated Proteins: Past, Present and Future.

    Brewer, M Kathryn / Gentry, Matthew S

    Advances in neurobiology

    2019  Volume 23, Page(s) 17–81

    Abstract: This chapter reviews the history of glycogen-related research and discusses in detail the structure, regulation, chemical properties and subcellular distribution of glycogen and its associated proteins, with particular focus on these aspects in brain ... ...

    Abstract This chapter reviews the history of glycogen-related research and discusses in detail the structure, regulation, chemical properties and subcellular distribution of glycogen and its associated proteins, with particular focus on these aspects in brain tissue.
    MeSH term(s) Brain/anatomy & histology ; Brain/metabolism ; Brain Chemistry ; Glycogen/chemistry ; Glycogen/metabolism ; Nerve Tissue Proteins/metabolism
    Chemical Substances Nerve Tissue Proteins ; Glycogen (9005-79-2)
    Language English
    Publishing date 2019-11-27
    Publishing country United States
    Document type Journal Article ; Review
    ISSN 2190-5215
    ISSN 2190-5215
    DOI 10.1007/978-3-030-27480-1_2
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  3. Article ; Online: Serotonergic therapy in epilepsy.

    Gilliam, Frank G / Hecimovic, Hrvoje / Gentry, Matthew S

    Current opinion in neurology

    2021  Volume 34, Issue 2, Page(s) 206–212

    Abstract: Purpose of review: The serotonergic system is implicated in multiple aspects of epilepsy, including seizure susceptibility, sudden unexpected death in epilepsy (SUDEP), and comorbid depression. Despite the complexity of serotonin's effects on various ... ...

    Abstract Purpose of review: The serotonergic system is implicated in multiple aspects of epilepsy, including seizure susceptibility, sudden unexpected death in epilepsy (SUDEP), and comorbid depression. Despite the complexity of serotonin's effects on various neuronal networks, ongoing research provides considerable insight into the role of serotonin in human epilepsy. This review explores the potential roles of serotonergic therapies to improve clinical outcomes in epilepsy.
    Recent findings: In recent decades, research has markedly increased our knowledge of the diverse effects of serotonin on brain function. Animal models of epilepsy have identified the influence of serotonin on seizure threshold in specific brain regions, serotoninergic augmentation's protective effects on terminal apnea and mortality in SUDEP, and mechanisms underlying behavioral improvement in some models of comorbid depression. Human clinical studies are largely consistent with animal data but the translation into definitive treatment decisions has moved less rapidly.
    Summary: Evidence for serotonergic therapy is promising for improvement in seizure control and prevention of SUDEP. For some epilepsies, such as Dravet syndrome, basic research on serotonin receptor agonists has translated into a positive clinical trial for fenfluramine. The cumulative results of safety and efficacy studies support the routine use of SSRIs for comorbid depression in epilepsy.
    MeSH term(s) Animals ; Brain ; Death, Sudden ; Epilepsy/drug therapy ; Epilepsy/epidemiology ; Humans ; Seizures ; Sudden Unexpected Death in Epilepsy
    Language English
    Publishing date 2021-03-10
    Publishing country England
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Review
    ZDB-ID 1182686-1
    ISSN 1473-6551 ; 1350-7540
    ISSN (online) 1473-6551
    ISSN 1350-7540
    DOI 10.1097/WCO.0000000000000901
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  4. Article ; Online: The 3rd International Lafora Epilepsy Workshop: Evidence for a cure.

    Brewer, M Kathryn / Gentry, Matthew S

    Epilepsy & behavior : E&B

    2018  Volume 81, Page(s) 125–127

    Language English
    Publishing date 2018-04
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 2010587-3
    ISSN 1525-5069 ; 1525-5050
    ISSN (online) 1525-5069
    ISSN 1525-5050
    DOI 10.1016/j.yebeh.2017.12.015
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  5. Article: The E3 ligase malin plays a pivotal role in promoting nuclear glycogenolysis and histone acetylation.

    Donohue, Katherine J / Gentry, Matthew S / Sun, Ramon C

    Annals of translational medicine

    2020  Volume 8, Issue 5, Page(s) 254

    Language English
    Publishing date 2020-04-06
    Publishing country China
    Document type Journal Article ; Comment
    ZDB-ID 2893931-1
    ISSN 2305-5847 ; 2305-5839
    ISSN (online) 2305-5847
    ISSN 2305-5839
    DOI 10.21037/atm.2020.01.130
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  6. Article ; Online: Current avenues of gene therapy in Pompe disease.

    Leon-Astudillo, Carmen / Trivedi, Prasad D / Sun, Ramon C / Gentry, Matthew S / Fuller, David D / Byrne, Barry J / Corti, Manuela

    Current opinion in neurology

    2023  Volume 36, Issue 5, Page(s) 464–473

    Abstract: Purpose of review: Pompe disease is a rare, inherited, devastating condition that causes progressive weakness, cardiomyopathy and neuromotor disease due to the accumulation of glycogen in striated and smooth muscle, as well as neurons. While enzyme ... ...

    Abstract Purpose of review: Pompe disease is a rare, inherited, devastating condition that causes progressive weakness, cardiomyopathy and neuromotor disease due to the accumulation of glycogen in striated and smooth muscle, as well as neurons. While enzyme replacement therapy has dramatically changed the outcome of patients with the disease, this strategy has several limitations. Gene therapy in Pompe disease constitutes an attractive approach due to the multisystem aspects of the disease and need to address the central nervous system manifestations. This review highlights the recent work in this field, including methods, progress, shortcomings, and future directions.
    Recent findings: Recombinant adeno-associated virus (rAAV) and lentiviral vectors (LV) are well studied platforms for gene therapy in Pompe disease. These products can be further adapted for safe and efficient administration with concomitant immunosuppression, with the modification of specific receptors or codon optimization. rAAV has been studied in multiple clinical trials demonstrating safety and tolerability.
    Summary: Gene therapy for the treatment of patients with Pompe disease is feasible and offers an opportunity to fully correct the principal pathology leading to cellular glycogen accumulation. Further work is needed to overcome the limitations related to vector production, immunologic reactions and redosing.
    MeSH term(s) Humans ; Glycogen Storage Disease Type II/genetics ; Glycogen Storage Disease Type II/therapy ; Genetic Therapy ; Central Nervous System ; Dependovirus/genetics ; Glycogen
    Chemical Substances Glycogen (9005-79-2)
    Language English
    Publishing date 2023-07-19
    Publishing country England
    Document type Review ; Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, N.I.H., Extramural
    ZDB-ID 1182686-1
    ISSN 1473-6551 ; 1350-7540
    ISSN (online) 1473-6551
    ISSN 1350-7540
    DOI 10.1097/WCO.0000000000001187
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  7. Article ; Online: The multifaceted roles of the brain glycogen.

    Markussen, Kia H / Corti, Manuela / Byrne, Barry J / Vander Kooi, Craig W / Sun, Ramon C / Gentry, Matthew S

    Journal of neurochemistry

    2023  

    Abstract: Glycogen is a biologically essential macromolecule that is directly involved in multiple human diseases. While its primary role in carbohydrate storage and energy metabolism in the liver and muscle is well characterized, recent research has highlighted ... ...

    Abstract Glycogen is a biologically essential macromolecule that is directly involved in multiple human diseases. While its primary role in carbohydrate storage and energy metabolism in the liver and muscle is well characterized, recent research has highlighted critical metabolic and non-metabolic roles for glycogen in the brain. In this review, the emerging roles of glycogen homeostasis in the healthy and diseased brain are discussed with a focus on advancing our understanding of the role of glycogen in the brain. Innovative technologies that have led to novel insights into glycogen functions are detailed. Key insights into how cellular localization impacts neuronal and glial function are discussed. Perturbed glycogen functions are observed in multiple disorders of the brain, including where it serves as a disease driver in the emerging category of neurological glycogen storage diseases (n-GSDs). n-GSDs include Lafora disease (LD), adult polyglucosan body disease (APBD), Cori disease, Glucose transporter type 1 deficiency syndrome (G1D), GSD0b, and late-onset Pompe disease (PD). They are neurogenetic disorders characterized by aberrant glycogen which results in devastating neurological and systemic symptoms. In the most severe cases, rapid neurodegeneration coupled with dementia results in death soon after diagnosis. Finally, we discuss current treatment strategies that are currently being developed and have the potential to be of great benefit to patients with n-GSD. Taken together, novel technologies and biological insights have resulted in a renaissance in brain glycogen that dramatically advanced our understanding of both biology and disease. Future studies are needed to expand our understanding and the multifaceted roles of glycogen and effectively apply these insights to human disease.
    Language English
    Publishing date 2023-08-09
    Publishing country England
    Document type Journal Article ; Review
    ZDB-ID 80158-6
    ISSN 1471-4159 ; 0022-3042 ; 1474-1644
    ISSN (online) 1471-4159
    ISSN 0022-3042 ; 1474-1644
    DOI 10.1111/jnc.15926
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    Ui II Zs.170: Show issues Location:
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  8. Article ; Online: Effect of intracerebroventricular administration of alglucosidase alfa in two mouse models of Lafora disease: Relevance for clinical practice.

    Zafra-Puerta, Luis / Colpaert, Matthieu / Iglesias-Cabeza, Nerea / Burgos, Daniel F / Sánchez-Martín, Gema / Gentry, Matthew S / Sánchez, Marina P / Serratosa, Jose M

    Epilepsy research

    2024  Volume 200, Page(s) 107317

    Abstract: Lafora disease is a rare and fatal form of progressive myoclonic epilepsy with onset during early adolescence. The disease is caused by mutations in EPM2A, encoding laforin, or EPM2B, encoding malin. Both proteins have functions that affect glycogen ... ...

    Abstract Lafora disease is a rare and fatal form of progressive myoclonic epilepsy with onset during early adolescence. The disease is caused by mutations in EPM2A, encoding laforin, or EPM2B, encoding malin. Both proteins have functions that affect glycogen metabolism, including glycogen dephosphorylation by laforin and ubiquitination of enzymes involved in glycogen metabolism by malin. Lack of function of laforin or malin results in the accumulation of polyglucosan that forms Lafora bodies in the central nervous system and other tissues. Enzyme replacement therapy through intravenous administration of alglucosidase alfa (Myozyme®) has shown beneficial effects removing polyglucosan aggregates in Pompe disease. We evaluated the effectiveness of intracerebroventricular administration of alglucosidase alfa in the Epm2a
    MeSH term(s) Mice ; Animals ; Lafora Disease/drug therapy ; Lafora Disease/genetics ; Mice, Knockout ; Ubiquitin-Protein Ligases/genetics ; Ubiquitin-Protein Ligases/metabolism ; Glycogen/metabolism ; Protein Tyrosine Phosphatases, Non-Receptor/genetics ; alpha-Glucosidases
    Chemical Substances GAA protein, human (EC 3.2.1.20) ; Ubiquitin-Protein Ligases (EC 2.3.2.27) ; Glycogen (9005-79-2) ; Protein Tyrosine Phosphatases, Non-Receptor (EC 3.1.3.48) ; alpha-Glucosidases (EC 3.2.1.20)
    Language English
    Publishing date 2024-02-06
    Publishing country Netherlands
    Document type Journal Article
    ZDB-ID 632939-1
    ISSN 1872-6844 ; 0920-1211
    ISSN (online) 1872-6844
    ISSN 0920-1211
    DOI 10.1016/j.eplepsyres.2024.107317
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  9. Article ; Online: Emerging roles of N-linked glycosylation in brain physiology and disorders.

    Conroy, Lindsey R / Hawkinson, Tara R / Young, Lyndsay E A / Gentry, Matthew S / Sun, Ramon C

    Trends in endocrinology and metabolism: TEM

    2021  Volume 32, Issue 12, Page(s) 980–993

    Abstract: N-linked glycosylation is a complex, co- and post-translational series of events that connects metabolism to signaling in almost all cells. Metabolic assembly of N-linked glycans spans multiple cellular compartments, and early N-linked glycan ... ...

    Abstract N-linked glycosylation is a complex, co- and post-translational series of events that connects metabolism to signaling in almost all cells. Metabolic assembly of N-linked glycans spans multiple cellular compartments, and early N-linked glycan biosynthesis is a central mediator of protein folding and the unfolded protein response (UPR). In the brain, N-linked glycosylated proteins participate in a myriad of processes, from electrical gradients to neurotransmission. However, it is less clear how perturbations in N-linked glycosylation impact and even potentially drive aspects of neurological disorders. In this review, we discuss our current understanding of the metabolic origins of N-linked glycans in the brain, their role in modulating neuronal function, and how aberrant N-linked glycosylation can drive neurological disorders.
    MeSH term(s) Brain/metabolism ; Glycosylation ; Humans ; Polysaccharides/metabolism ; Protein Processing, Post-Translational ; Signal Transduction
    Chemical Substances Polysaccharides
    Language English
    Publishing date 2021-10-29
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 1042384-9
    ISSN 1879-3061 ; 1043-2760
    ISSN (online) 1879-3061
    ISSN 1043-2760
    DOI 10.1016/j.tem.2021.09.006
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  10. Article ; Online: The unique evolution of the carbohydrate-binding module CBM20 in laforin.

    Kuchtová, Andrea / Gentry, Matthew S / Janeček, Štefan

    FEBS letters

    2018  Volume 592, Issue 4, Page(s) 586–598

    Abstract: Laforin catalyses glycogen dephosphorylation. Mutations in its gene result in Lafora disease, a fatal progressive myoclonus epilepsy, the hallmark being water-insoluble, hyperphosphorylated carbohydrate inclusions called Lafora bodies. Human laforin ... ...

    Abstract Laforin catalyses glycogen dephosphorylation. Mutations in its gene result in Lafora disease, a fatal progressive myoclonus epilepsy, the hallmark being water-insoluble, hyperphosphorylated carbohydrate inclusions called Lafora bodies. Human laforin consists of an N-terminal carbohydrate-binding module (CBM) from family CBM20 and a C-terminal dual-specificity phosphatase domain. Laforin is conserved in all vertebrates, some basal metazoans and a small group of protozoans. The present in silico study defines the evolutionary relationships among the CBM20s of laforin with an emphasis on newly identified laforin orthologues. The study reveals putative laforin orthologues in Trichinella, a parasitic nematode, and identifies two sequence inserts in the CBM20 of laforin from parasitic coccidia. Finally, we identify that the putative laforin orthologues from some protozoa and algae possess more than one CBM20.
    MeSH term(s) Animals ; Carbohydrate Metabolism ; Computer Simulation ; Evolution, Molecular ; Humans ; Protein Domains ; Protein Tyrosine Phosphatases, Non-Receptor/chemistry ; Protein Tyrosine Phosphatases, Non-Receptor/metabolism
    Chemical Substances Protein Tyrosine Phosphatases, Non-Receptor (EC 3.1.3.48)
    Language English
    Publishing date 2018-02-15
    Publishing country England
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 212746-5
    ISSN 1873-3468 ; 0014-5793
    ISSN (online) 1873-3468
    ISSN 0014-5793
    DOI 10.1002/1873-3468.12994
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