| 1 | GBE1, GSD4
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| Systemic Correction of Murine Glycogen Storage Disease Type IV by an AAV-Mediated Gene Therapy.
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| Yi H, Zhang Q, Brooks ED, Yang C, Thurberg BL, Kishnani PS, Sun B.
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| Hum Gene Ther um Gene Ther. 2016 Nov 10. [Epub ahead of print]
2016
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| 2 | GBE1, GSD4
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| A novel neuromuscular form of glycogen storage disease type IV with arthrogryposis, spinal stiffness and rare polyglucosan bodies in muscle.
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| Malfatti E, Barnerias C, Hedberg-Oldfors C, Gitiaux C, Benezit A, Oldfors A, Carlier RY, Quijano-Roy S, Romero NB.
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| Neuromuscul Disord 26(10):681-687. doi: 10.1016/j.nmd.2016.07.005.
2016
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| 3 | GBE1, NFE2L2, PHKA1
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| Nrf2-Mediated Regulation of Skeletal Muscle Glycogen Metabolism.
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| Uruno A, Yagishita Y, Katsuoka F, Kitajima Y, Nunomiya A, Nagatomi R, Pi J, Biswal SS, Yamamoto M.
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| Mol Cell Biol 36(11):1655-72. doi: 10.1128/MCB.01095-15. 2016
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| 4 | APBN, GBE1
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| Polyglucosan bodies in intramuscular nerve branches are a poor predictor of GBE1 mutation and adult polyglucosan body disease.
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| Furtado LV, Kadri S, Wurst MN, Long BC, Segal JP, Pytel P.
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| Muscle Nerve 53(3):473-5. doi: 10.1002/mus.25017.
2016
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| 5 | APBN, GBE1
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| Deep intronic GBE1 mutation in manifesting heterozygous patients with adult polyglucosan body disease.
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| Akman HO, Kakhlon O, Coku J, Peverelli L, Rosenmann H, Rozenstein-Tsalkovich L, Turnbull J, Meiner V, Chama L, Lerer I, Shpitzen S, Leitersdorf E, Paradas C, Wallace M, Schiffmann R, DiMauro S, Lossos A, Minassian BA.
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| JAMA Neurol 72(4):441-5. doi: 10.1001/jamaneurol.2014.4496. Erratum in: JAMA Neurol. 2015 Apr;72(4):481.
2015
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| 6 | APBN, GBE1
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| A novel GBE1 mutation and features of polyglucosan bodies autophagy in adult polyglucosan body disease.
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| Sampaolo S, Esposito T, Gianfrancesco F, Napolitano F, Lombardi L, Lucà R, Roperto F, Di Iorio G.
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| Neuromuscul Disord 25(3):247-52. doi: 10.1016/j.nmd.2014.11.006.
2015
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| 7 | GBE1
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| Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design.
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| Froese DS, Michaeli A, McCorvie TJ, Krojer T, Sasi M, Melaev E, Goldblum A, Zatsepin M, Lossos A, Álvarez R, Escribá PV, Minassian BA, von Delft F, Kakhlon O, Yue WW.
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| Hum Mol Genet 24(20):5667-76. doi: 10.1093/hmg/ddv280.
2015
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| 8 | GBE1, GSD4
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| Whole exome sequencing in foetal akinesia expands the genotype-phenotype spectrum of GBE1 glycogen storage disease mutations.
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| Ravenscroft G, Thompson EM, Todd EJ, Yau KS, Kresoje N, Sivadorai P, Friend K, Riley K, Manton ND, Blumbergs P, Fietz M, Duff RM, Davis MR, Allcock RJ, Laing NG.
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| Neuromuscul Disord 23(2):165-9. doi: 10.1016/j.nmd.2012.11.005.
2013
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| 9 | APBN, GBE1, GSD4
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| The adult polyglucosan body disease mutation GBE1 c.1076A>C occurs at high frequency in persons of Ashkenazi Jewish background.
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| Hussain A, Armistead J, Gushulak L, Kruck C, Pind S, Triggs-Raine B, Natowicz MR.
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| Biochem Biophys Res Commun 426(2):286-8. doi: 10.1016/j.bbrc.2012.08.089.
2012
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| 10 | GBE1, GSD4
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| Glycogen-branching enzyme deficiency leads to abnormal cardiac development: novel insights into glycogen storage disease IV.
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| Lee YC, Chang CJ, Bali D, Chen YT, Yan YT.
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| Hum Mol Genet 20(3):455-65. doi: 10.1093/hmg/ddq492.
2011
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| 11 | GBE1, UGP2
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| Hypoxia promotes glycogen accumulation through hypoxia inducible factor (HIF)-mediated induction of glycogen synthase 1.
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| Pescador N, Villar D, Cifuentes D, Garcia-Rocha M, Ortiz-Barahona A, Vazquez S, Ordoñez A, Cuevas Y, Saez-Morales D, Garcia-Bermejo ML, Landazuri MO, Guinovart J, del Peso L.
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| PLoS One 5(3):e9644. doi: 10.1371/journal.pone.0009644.
2010
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| 12 | GBE1, GSD4
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| Null mutations and lethal congenital form of glycogen storage disease type IV.
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| Assereto S, van Diggelen OP, Diogo L, Morava E, Cassandrini D, Carreira I, de Boode WP, Dilling J, Garcia P, Henriques M, Rebelo O, ter Laak H, Minetti C, Bruno C.
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| Biochem Biophys Res Commun 361(2):445-50. Epub 2007 Jul 24. 2007
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| 13 | GBE1, GSD4
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| Neuromuscular forms of glycogen branching enzyme deficiency.
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| Bruno C, Cassandrini D, Assereto S, Akman HO, Minetti C, Di Mauro S.
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| Acta Myol 26(1):75-8.
2007
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| 14 | GSD4, GBE1
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| Non-lethal congenital hypotonia due to glycogen storage disease type IV.
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| Burrow TA, Hopkin RJ, Bove KE, Miles L, Wong BL, Choudhary A, Bali D, Li SC, Chen YT.
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| Am J Med Genet A 140(8):878-82. 2006
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| 15 | GBE1, GSD4
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| Neonatal type IV glycogen storage disease associated with null mutations in glycogen branching enzyme 1.
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| Janecke AR, Dertinger S, Ketelsen UP, Bereuter L, Simma B, Muller T, Vogel W, Offner FA.
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| J Pediatr 145(5):705-9. 2004
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| 16 | GBE1, GSD4
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| Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease.
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| Ziemssen F, Sindern E, Schroder JM, Shin YS, Zange J, Kilimann MW, Malin JP, Vorgerd M.
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| Ann Neurol 47(4):536-40. 2000
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| 17 | GBE1, GSD4
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| Adult polygucosan body disease in Ashkenazi Jewish patients carrying the Tyr329Ser mutation in the glycogen-branching enzyme gene.
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| Lossos A, et al.
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| Ann Neurol 44 : 867-872. 1998
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| 18 | GBE1, GSD4
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| Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene.
|
| Bao Y, et al.
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| J Clin Invest 97 : 941-948. 1996
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