Peter J. Roach

Impaired malin expression and interaction with partner proteins in Lafora disease

Alexander V. Skurat, Dyann M. Segvich, Christopher Contreras, Yueh‐Chiang Hu et autres

Lafora disease (LD) is an autosomal recessive myoclonus epilepsy with onset in the teenage years leading to death within a decade of onset. LD is characterized by the overaccumulation of hyperphosphorylated, poorly branched, insoluble, glycogen-like polymers called Lafora bodies. The disease is …

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Integration of metabolic flux with hepatic glucagon signaling and gene expression profiles in the conscious dog

Katie C. Coate, Christopher J. Ramnanan, Marta S. Smith, Jason J. Winnick et autres

Glucagon rapidly stimulates hepatic glucose production, but these effects are transient. This study links the molecular and metabolic flux changes that occur in the liver over time in response to a rise in glucagon, demonstrating the strength of the dog as a …

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Small-molecule inhibition of glycogen synthase 1 for the treatment of Pompe disease and other glycogen storage disorders

Julie C. Ullman, Kevin T. Mellem, Yannan Xi, Vyas Ramanan et autres

Glycogen synthase 1 (GYS1), the rate-limiting enzyme in muscle glycogen synthesis, plays a central role in energy homeostasis and has been proposed as a therapeutic target in multiple glycogen storage diseases. Despite decades of investigation, there are no known potent, selective small-molecule …

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Integration of metabolic flux with hepatic glucagon signaling and gene expression profiles in the conscious dog

Katie C. Coate, Christopher J. Ramnanan, Marta S. Smith, Jason J. Winnick et autres

Glucagon rapidly and profoundly simulates hepatic glucose production (HGP), but for reasons which are unclear, this effect normally wanes after a few hours, despite sustained plasma glucagon levels. This study characterized the time course and relevance (to metabolic flux) of glucagon mediated …

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The structural mechanism of human glycogen synthesis by the GYS1-GYG1 complex

Nathan M. Fastman, Yuxi Liu, Vyas Ramanan, Hanne Merritt et autres

Glycogen is the primary energy reserve in mammals, and dysregulation of glycogen metabolism can result in glycogen storage diseases (GSDs). In muscle, glycogen synthesis is initiated by the enzymes glycogenin-1 (GYG1), which seeds the molecule by autoglucosylation, and glycogen synthase-1 (GYS1), which …

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Brain glycogen serves as a critical glucosamine cache required for protein glycosylation

Ramon C. Sun, Lyndsay E.A. Young, Ronald C. Bruntz, Kia H. Markussen et autres

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Energy Metabolism | Glycogen Metabolism

Peter J. Roach

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GYS1 or PPP1R3C deficiency rescues murine adult polyglucosan body disease

Erin E. Chown, Peixiang Wang, Xiaochu Zhao, Justin J. Crowder et autres

OBJECTIVE: Adult polyglucosan body disease (APBD) is an adult-onset neurological variant of glycogen storage disease type IV. APBD is caused by recessive mutations in the glycogen branching enzyme gene, and the consequent accumulation of poorly branched glycogen aggregates called polyglucosan bodies in …

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Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

Bożena Gabryel, Hkw Law, Angelo De Milito, Jason E. Gestwicki et autres

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Discovery and Development of Small-Molecule Inhibitors of Glycogen Synthase

Buyun Tang, M. S. Frasinyuk, Vimbai M. Chikwana, K.K. Mahalingan et autres

The overaccumulation of glycogen appears as a hallmark in various glycogen storage diseases (GSDs), including Pompe, Cori, Andersen, and Lafora disease. Accumulating evidence suggests that suppression of glycogen accumulation represents a potential therapeutic approach for treating these GSDs. Using a fluorescence polarization …

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Discovery and Development of Small-Molecule Inhibitors of Glycogen Synthase

Buyun Tang, M. S. Frasinyuk, Vimbai M. Chikwana, K.K. Mahalingan et autres

The overaccumulation of glycogen appears as a hallmark in various glycogen storage diseases (GSDs), including Pompe, Cori, Andersen, and Lafora disease. Accumulating evidence suggests that suppress...

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Glycogenin is Dispensable for Glycogen Synthesis in Human Muscle, and Glycogenin Deficiency Causes Polyglucosan Storage

Kittichate Visuttijai, Carola Hedberg‐Oldfors, Christer Thomsen, Emma Glamuzina et autres

Context Glycogenin is considered to be an essential primer for glycogen biosynthesis. Nevertheless, patients with glycogenin-1 deficiency due to biallelic GYG1 (NM_004130.3) mutations can store glycogen in muscle. Glycogenin-2 has been suggested as an alternative primer for glycogen synthesis in patients with …

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