Search Results - "Segvich, Dyann M."

Discovery and Development of Small-Molecule Inhibitors of Glycogen Synthase by Tang, Buyun, Frasinyuk, Mykhaylo S, Chikwana, Vimbai M, Mahalingan, Krishna K, Morgan, Cynthia A, Segvich, Dyann M, Bondarenko, Svitlana P, Mrug, Galyna P, Wyrebek, Przemyslaw, Watt, David S, DePaoli-Roach, Anna A, Roach, Peter J, Hurley, Thomas D

“…The overaccumulation of glycogen appears as a hallmark in various glycogen storage diseases (GSDs), including Pompe, Cori, Andersen, and Lafora disease…”
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Genetic Depletion of the Malin E3 Ubiquitin Ligase in Mice Leads to Lafora Bodies and the Accumulation of Insoluble Laforin by DePaoli-Roach, Anna A., Tagliabracci, Vincent S., Segvich, Dyann M., Meyer, Catalina M., Irimia, Jose M., Roach, Peter J.

“…Approximately 90% of cases of Lafora disease, a fatal teenage-onset progressive myoclonus epilepsy, are caused by mutations in either the EPM2A or the EPM2B…”
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Glycogen Phosphomonoester Distribution in Mouse Models of the Progressive Myoclonic Epilepsy, Lafora Disease by DePaoli-Roach, Anna A., Contreras, Christopher J., Segvich, Dyann M., Heiss, Christian, Ishihara, Mayumi, Azadi, Parastoo, Roach, Peter J.

“…Glycogen is a branched polymer of glucose that acts as an energy reserve in many cell types. Glycogen contains trace amounts of covalent phosphate, in the…”
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Skeletal manifestations in a streptozotocin-induced C57BL/6 model of Type 1 diabetes by Hatch, Jennifer M., Segvich, Dyann M., Kohler, Rachel, Wallace, Joseph M.

“…Diabetes Mellitus is a metabolic disease which profoundly affects many organ systems in the body, including the skeleton. As is often the case with biology,…”
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Romosozumab rescues impaired bone mass and strength in a murine model of diabetic kidney disease by Kohler, Rachel, Segvich, Dyann M., Reul, Olivia, Metzger, Corinne E., Allen, Matthew R., Wallace, Joseph M.

“…As international incidence of diabetes and diabetes-driven comorbidities such as chronic kidney disease (CKD) continue to climb, interventions are needed that…”
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Lack of liver glycogen causes hepatic insulin resistance and steatosis in mice by Irimia, Jose M., Meyer, Catalina M., Segvich, Dyann M., Surendran, Sneha, DePaoli-Roach, Anna A., Morral, Nuria, Roach, Peter J.

“…Disruption of the Gys2 gene encoding the liver isoform of glycogen synthase generates a mouse strain (LGSKO) that almost completely lacks hepatic glycogen, has…”
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Targeting Pathogenic Lafora Bodies in Lafora Disease Using an Antibody-Enzyme Fusion by Brewer, M. Kathryn, Uittenbogaard, Annette, Austin, Grant L., Segvich, Dyann M., DePaoli-Roach, Anna, Roach, Peter J., McCarthy, John J., Simmons, Zoe R., Brandon, Jason A., Zhou, Zhengqiu, Zeller, Jill, Young, Lyndsay E.A., Sun, Ramon C., Pauly, James R., Aziz, Nadine M., Hodges, Bradley L., McKnight, Tracy R., Armstrong, Dustin D., Gentry, Matthew S.

“…Lafora disease (LD) is a fatal childhood epilepsy caused by recessive mutations in either the EPM2A or EPM2B gene. A hallmark of LD is the intracellular…”
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A prevalent variant in PPP1R3A impairs glycogen synthesis and reduces muscle glycogen content in humans and mice by Savage, David B, Zhai, Lanmin, Ravikumar, Balasubramanian, Choi, Cheol Soo, Snaar, Johanna E, McGuire, Amanda C, Wou, Sung-Eun, Medina-Gomez, Gemma, Kim, Sheene, Bock, Cheryl B, Segvich, Dyann M, Solanky, Bhavana, Deelchand, Dinesh, Vidal-Puig, Antonio, Wareham, Nicholas J, Shulman, Gerald I, Karpe, Fredrik, Taylor, Roy, Pederson, Bartholomew A, Roach, Peter J, O'Rahilly, Stephen, DePaoli-Roach, Anna A

“…Stored glycogen is an important source of energy for skeletal muscle. Human genetic disorders primarily affecting skeletal muscle glycogen turnover are…”
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Metabolic and Skeletal Characterization of the KK/Ay Mouse Model—A Polygenic Mutation Model of Obese Type 2 Diabetes by Chowdhury, Nusaiba N., Surowiec, Rachel K., Kohler, Rachel K., Reul, Olivia N., Segvich, Dyann M., Wallace, Joseph M.

“…Type 2 diabetes (T2D) increases fracture incidence and fracture-related mortality rates (KK.Cg-Ay/J. The Jackson Laboratory; Available from:…”
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Independent contribution of gonads and sex chromosomes to sex differences in bone mass and strength in the four-Core genotypes mouse model by Ramirez, Gabriel, Okpara, Chiebuka, Arnett, Matthew, Segvich, Dyann M, Deosthale, Padmini, González, Paola Ortiz, Kritikos, Alexander E, Melo, Julian Balanta, Sanz, Natasha, Pin, Fabrizio, Wallace, Joseph M, Plotkin, Lilian I

“…Vertebrate sexual dimorphism is ascribed to the presence of testes or ovaries, and, hence, to the secretion of gonad-specific hormones. However, mounting…”
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Impaired malin expression and interaction with partner proteins in Lafora disease by Skurat, Alexander V., Segvich, Dyann M., Contreras, Christopher J., Hu, Yueh-Chiang, Hurley, Thomas D., DePaoli-Roach, Anna A., Roach, Peter J.

“…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…”
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Brain glycogen serves as a critical glucosamine cache required for protein glycosylation by Sun, Ramon C., Young, Lyndsay E.A., Bruntz, Ronald C., Markussen, Kia H., Zhou, Zhengqiu, Conroy, Lindsey R., Hawkinson, Tara R., Clarke, Harrison A., Stanback, Alexandra E., Macedo, Jessica K.A., Emanuelle, Shane, Brewer, M. Kathryn, Rondon, Alberto L., Mestas, Annette, Sanders, William C., Mahalingan, Krishna K., Tang, Buyun, Chikwana, Vimbai M., Segvich, Dyann M., Contreras, Christopher J., Allenger, Elizabeth J., Brainson, Christine F., Johnson, Lance A., Taylor, Richard E., Armstrong, Dustin D., Shaffer, Robert, Waechter, Charles J., Vander Kooi, Craig W., DePaoli-Roach, Anna A., Roach, Peter J., Hurley, Thomas D., Drake, Richard R., Gentry, Matthew S.

“…Glycosylation defects are a hallmark of many nervous system diseases. However, the molecular and metabolic basis for this pathology is not fully understood. In…”
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Novel method for detection of glycogen in cells by Skurat, Alexander V, Segvich, Dyann M, DePaoli-Roach, Anna A, Roach, Peter J

“…Glycogen, a branched polymer of glucose, functions as an energy reserve in many living organisms. Abnormalities in glycogen metabolism, usually excessive…”
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Protein Degradation and Quality Control in Cells from Laforin and Malin Knockout Mice by Garyali, Punitee, Segvich, Dyann M., DePaoli-Roach, Anna A., Roach, Peter J.

“…Lafora disease is a progressive myoclonus epilepsy caused by mutations in the EPM2A or EPM2B genes that encode a glycogen phosphatase, laforin, and an E3…”
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Muscle Glycogen Remodeling and Glycogen Phosphate Metabolism following Exhaustive Exercise of Wild Type and Laforin Knockout Mice by Irimia, Jose M., Tagliabracci, Vincent S., Meyer, Catalina M., Segvich, Dyann M., DePaoli-Roach, Anna A., Roach, Peter J.

“…Glycogen, the repository of glucose in many cell types, contains small amounts of covalent phosphate, of uncertain function and poorly understood metabolism…”
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Incorporation of phosphate into glycogen by glycogen synthase by Contreras, Christopher J., Segvich, Dyann M., Mahalingan, Krishna, Chikwana, Vimbai M., Kirley, Terence L., Hurley, Thomas D., DePaoli-Roach, Anna A., Roach, Peter J.

“…The storage polymer glycogen normally contains small amounts of covalently attached phosphate as phosphomonoesters at C2, C3 and C6 atoms of glucose residues…”
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Laforin and malin knockout mice have normal glucose disposal and insulin sensitivity by DePaoli-Roach, Anna A., Segvich, Dyann M., Meyer, Catalina M., Rahimi, Yasmeen, Worby, Carolyn A., Gentry, Matthew S., Roach, Peter J.

“…Lafora disease is a fatal, progressive myoclonus epilepsy caused in ∼90% of cases by mutations in the EPM2A or EPM2B genes. Characteristic of the disease is…”
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Correction: a prevalent variant in PPP1R3A impairs glycogen synthesis and reduces muscle glycogen content in humans and mice by Savage, David B, Zhai, Lanmin, Ravikumar, Balasubramanian, Choi, Cheol Soo, Snaar, Johanna E, McGuire, Amanda C, Wou, Sung-Eun, Medina-Gomez, Gemma, Kim, Sheene, Bock, Cheryl B, Segvich, Dyann M, Solanky, Bhavana, Deelchand, Dinesh, Vidal-Puig, Antonio, Wareham, Nicholas J, Shulman, Gerald I, Karpe, Fredrik, Taylor, Roy, Pederson, Bartholomew A, Roach, Peter J, O'Rahilly, Stephen, DePaoli-Roach, Anna A

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Metabolic and Skeletal Characterization of the KK/A y Mouse Model-A Polygenic Mutation Model of Obese Type 2 Diabetes by Chowdhury, Nusaiba N, Surowiec, Rachel K, Kohler, Rachel K, Reul, Olivia N, Segvich, Dyann M, Wallace, Joseph M

“…Type 2 diabetes (T2D) increases fracture incidence and fracture-related mortality rates (KK.Cg-Ay/J. The Jackson Laboratory; Available from:…”
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Correction: A Prevalent Variant in Impairs Glycogen Synthesis and Reduces Muscle Glycogen Content in Humans and Mice by David B Savage, Lanmin Zhai, Balasubramanian Ravikumar, Cheol Soo Choi, Johanna E Snaar, Amanda C McGuire, Sung-Eun Wou, Gemma Medina-Gomez, Sheene Kim, Cheryl B Bock, Dyann M Segvich, Bhavana Solanky, Dinesh Deelchand, Antonio Vidal-Puig, Nicholas J Wareham, Gerald I Shulman, Fredrik Karpe, Roy Taylor, Bartholomew A Pederson, Peter J Roach, Stephen O'Rahilly, Anna A DePaoli-Roach

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