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Items: 1 to 20 of 75

1.

Deleterious effects of neuronal accumulation of glycogen in flies and mice.

Duran J, Tevy MF, Garcia-Rocha M, Calbó J, Milán M, Guinovart JJ.

EMBO Mol Med. 2012 Aug;4(8):719-29. doi: 10.1002/emmm.201200241. Epub 2012 May 2.

2.

Neurodegeneration and functional impairments associated with glycogen synthase accumulation in a mouse model of Lafora disease.

Valles-Ortega J, Duran J, Garcia-Rocha M, Bosch C, Saez I, Pujadas L, Serafin A, Cañas X, Soriano E, Delgado-García JM, Gruart A, Guinovart JJ.

EMBO Mol Med. 2011 Nov;3(11):667-81. doi: 10.1002/emmm.201100174. Epub 2011 Aug 29.

3.

Neuronal glycogen synthesis contributes to physiological aging.

Sinadinos C, Valles-Ortega J, Boulan L, Solsona E, Tevy MF, Marquez M, Duran J, Lopez-Iglesias C, Calbó J, Blasco E, Pumarola M, Milán M, Guinovart JJ.

Aging Cell. 2014 Oct;13(5):935-45. doi: 10.1111/acel.12254. Epub 2014 Jul 25.

4.

Glycogen hyperphosphorylation underlies lafora body formation.

Turnbull J, Wang P, Girard JM, Ruggieri A, Wang TJ, Draginov AG, Kameka AP, Pencea N, Zhao X, Ackerley CA, Minassian BA.

Ann Neurol. 2010 Dec;68(6):925-33. doi: 10.1002/ana.22156.

PMID:
21077101
5.

Laforin prevents stress-induced polyglucosan body formation and Lafora disease progression in neurons.

Wang Y, Ma K, Wang P, Baba O, Zhang H, Parent JM, Zheng P, Liu Y, Minassian BA, Liu Y.

Mol Neurobiol. 2013 Aug;48(1):49-61. doi: 10.1007/s12035-013-8438-2. Epub 2013 Apr 2.

6.

Glycogen metabolism in tissues from a mouse model of Lafora disease.

Wang W, Lohi H, Skurat AV, DePaoli-Roach AA, Minassian BA, Roach PJ.

Arch Biochem Biophys. 2007 Jan 15;457(2):264-9. Epub 2006 Nov 3.

7.

Brain glycogen in health and disease.

Duran J, Guinovart JJ.

Mol Aspects Med. 2015 Dec;46:70-7. doi: 10.1016/j.mam.2015.08.007. Epub 2015 Sep 5. Review.

PMID:
26344371
8.

Mechanism suppressing glycogen synthesis in neurons and its demise in progressive myoclonus epilepsy.

Vilchez D, Ros S, Cifuentes D, Pujadas L, Vallès J, García-Fojeda B, Criado-García O, Fernández-Sánchez E, Medraño-Fernández I, Domínguez J, García-Rocha M, Soriano E, Rodríguez de Córdoba S, Guinovart JJ.

Nat Neurosci. 2007 Nov;10(11):1407-13. Epub 2007 Oct 21.

PMID:
17952067
9.

Glycogen accumulation underlies neurodegeneration and autophagy impairment in Lafora disease.

Duran J, Gruart A, García-Rocha M, Delgado-García JM, Guinovart JJ.

Hum Mol Genet. 2014 Jun 15;23(12):3147-56. doi: 10.1093/hmg/ddu024. Epub 2014 Jan 22.

PMID:
24452334
10.

Surprises of genetic engineering: a possible model of polyglucosan body disease.

Raben N, Danon M, Lu N, Lee E, Shliselfeld L, Skurat AV, Roach PJ, Lawrence JC Jr, Musumeci O, Shanske S, DiMauro S, Plotz P.

Neurology. 2001 Jun 26;56(12):1739-45.

PMID:
11425943
11.

Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0.

Orho M, Bosshard NU, Buist NR, Gitzelmann R, Aynsley-Green A, Blümel P, Gannon MC, Nuttall FQ, Groop LC.

J Clin Invest. 1998 Aug 1;102(3):507-15.

12.

Polyglucosan neurotoxicity caused by glycogen branching enzyme deficiency can be reversed by inhibition of glycogen synthase.

Kakhlon O, Glickstein H, Feinstein N, Liu Y, Baba O, Terashima T, Akman HO, Dimauro S, Lossos A.

J Neurochem. 2013 Oct;127(1):101-13. doi: 10.1111/jnc.12277. Epub 2013 May 9.

13.

A GYS1 gene mutation is highly associated with polysaccharide storage myopathy in Cob Normand draught horses.

Herszberg B, McCue ME, Larcher T, Mata X, Vaiman A, Chaffaux S, Chérel Y, Valberg SJ, Mickelson JR, Guérin G.

Anim Genet. 2009 Feb;40(1):94-6. doi: 10.1111/j.1365-2052.2008.01778.x. Epub 2008 Sep 24.

PMID:
18822097
14.

PTG depletion removes Lafora bodies and rescues the fatal epilepsy of Lafora disease.

Turnbull J, DePaoli-Roach AA, Zhao X, Cortez MA, Pencea N, Tiberia E, Piliguian M, Roach PJ, Wang P, Ackerley CA, Minassian BA.

PLoS Genet. 2011 Apr;7(4):e1002037. doi: 10.1371/journal.pgen.1002037. Epub 2011 Apr 28.

15.

Insulin control of glycogen metabolism in knockout mice lacking the muscle-specific protein phosphatase PP1G/RGL.

Suzuki Y, Lanner C, Kim JH, Vilardo PG, Zhang H, Yang J, Cooper LD, Steele M, Kennedy A, Bock CB, Scrimgeour A, Lawrence JC Jr, DePaoli-Roach AA.

Mol Cell Biol. 2001 Apr;21(8):2683-94.

16.

Glycogen synthase (GYS1) mutation causes a novel skeletal muscle glycogenosis.

McCue ME, Valberg SJ, Miller MB, Wade C, DiMauro S, Akman HO, Mickelson JR.

Genomics. 2008 May;91(5):458-66. doi: 10.1016/j.ygeno.2008.01.011. Epub 2008 Mar 20.

17.

The muscle-specific protein phosphatase PP1G/R(GL)(G(M))is essential for activation of glycogen synthase by exercise.

Aschenbach WG, Suzuki Y, Breeden K, Prats C, Hirshman MF, Dufresne SD, Sakamoto K, Vilardo PG, Steele M, Kim JH, Jing SL, Goodyear LJ, DePaoli-Roach AA.

J Biol Chem. 2001 Oct 26;276(43):39959-67. Epub 2001 Aug 24.

18.

A new muscle glycogen storage disease associated with glycogenin-1 deficiency.

Malfatti E, Nilsson J, Hedberg-Oldfors C, Hernandez-Lain A, Michel F, Dominguez-Gonzalez C, Viennet G, Akman HO, Kornblum C, Van den Bergh P, Romero NB, Engel AG, DiMauro S, Oldfors A.

Ann Neurol. 2014 Dec;76(6):891-8. doi: 10.1002/ana.24284. Epub 2014 Oct 31.

19.

Control of yeast glycogen synthase-2 by COOH-terminal phosphorylation.

Hardy TA, Roach PJ.

J Biol Chem. 1993 Nov 15;268(32):23799-805.

PMID:
8226915
20.

Dysfunctional glycogen storage in a mouse model of alpha1-antitrypsin deficiency.

Hubner RH, Leopold PL, Kiuru M, De BP, Krause A, Crystal RG.

Am J Respir Cell Mol Biol. 2009 Feb;40(2):239-47. doi: 10.1165/rcmb.2008-0029OC. Epub 2008 Aug 7.

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