PMC Articles for MedGen (Select 1842066) - PMC

Select item 90375681.

A novel variant of RBCK1 gene causes mild polyglucosan myopathy

Talal AlAnzi, Fahad Al Harbi, AbdulAziz AlGhamdi, Sarar Mohamed

Neurosciences (Riyadh) 2022 Jan; 27(1): 45–49. doi: 10.17712/nsj.2022.1.20210681

PMCID:: PMC9037568

Select item 61718122.

Guaiacol as a drug candidate for treating adult polyglucosan body disease

Or Kakhlon, Igor Ferreira, Leonardo J. Solmesky, Netaly Khazanov, Alexander Lossos, Rafael Alvarez, Deniz Yetil, Sergey Pampou, Miguel Weil, Hanoch Senderowitz, Pablo Escriba, Wyatt W. Yue, H. Orhan Akman

JCI Insight. 2018 Sep 6; 3(17): e99694. Published online 2018 Sep 6. doi: 10.1172/jci.insight.99694

PMCID:: PMC6171812

Abstract Article PDF–2.3M

Select item 29191003.

Genetic Depletion of the Malin E3 Ubiquitin Ligase in Mice Leads to Lafora Bodies and the Accumulation of Insoluble Laforin

Anna A. DePaoli-Roach, Vincent S. Tagliabracci, Dyann M. Segvich, Catalina M. Meyer, Jose M. Irimia, Peter J. Roach

J Biol Chem. 2010 Aug 13; 285(33): 25372–25381. Published online 2010 Jun 10. doi: 10.1074/jbc.M110.148668

PMCID:: PMC2919100

Abstract Article PDF–2.7M

Select item 19938714.

A role for AGL ubiquitination in the glycogen storage disorders of Lafora and Cori’s disease

Alan Cheng, Mei Zhang, Matthew S. Gentry, Carolyn A. Worby, Jack E. Dixon, Alan R. Saltiel

Genes Dev. 2007 Oct 1; 21(19): 2399–2409. doi: 10.1101/gad.1553207

PMCID:: PMC1993871

Abstract Article PDF–745K

Select item 46343805.

A novel mouse model that recapitulates adult-onset glycogenosis type 4

H. Orhan Akman, Valentina Emmanuele, Yasemin Gülcan Kurt, Bülent Kurt, Tatiana Sheiko, Salvatore DiMauro, William J. Craigen

Hum Mol Genet. 2015 Dec 1; 24(23): 6801–6810. Published online 2015 Sep 18. doi: 10.1093/hmg/ddv385

PMCID:: PMC4634380

Abstract Article PDF–1.2M

Select item 25907086.

Abnormal Metabolism of Glycogen Phosphate as a Cause for Lafora Disease

Vincent S. Tagliabracci, Jean Marie Girard, Dyann Segvich, Catalina Meyer, Julie Turnbull, Xiaochu Zhao, Berge A. Minassian, Anna A. DePaoli-Roach, Peter J. Roach

J Biol Chem. 2008 Dec 5; 283(49): 33816–33825. doi: 10.1074/jbc.M807428200

PMCID:: PMC2590708

Abstract Article PDF–610K

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