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Page 1
Alleviation of a polyglucosan storage disorder by enhancement of autophagic glycogen catabolism.
Kakhlon O, Vaknin H, Mishra K, D'Souza J, Marisat M, Sprecher U, Wald-Altman S, Dukhovny A, Raviv Y, Da'adoosh B, Engel H, Benhamron S, Nitzan K, Sweetat S, Permyakova A, Mordechai A, Akman HO, Rosenmann H, Lossos A, Tam J, Minassian BA, Weil M. Kakhlon O, et al. Among authors: minassian ba. EMBO Mol Med. 2021 Oct 7;13(10):e14554. doi: 10.15252/emmm.202114554. Epub 2021 Sep 6. EMBO Mol Med. 2021. PMID: 34486811 Free PMC article.
Deep intronic GBE1 mutation in manifesting heterozygous patients with adult polyglucosan body disease.
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. Akman HO, et al. Among authors: minassian ba. JAMA Neurol. 2015 Apr;72(4):441-5. doi: 10.1001/jamaneurol.2014.4496. JAMA Neurol. 2015. PMID: 25665141
Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design.
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. Froese DS, et al. Among authors: minassian ba. Hum Mol Genet. 2015 Oct 15;24(20):5667-76. doi: 10.1093/hmg/ddv280. Epub 2015 Jul 21. Hum Mol Genet. 2015. PMID: 26199317 Free PMC article.
GYS1 or PPP1R3C deficiency rescues murine adult polyglucosan body disease.
Chown EE, Wang P, Zhao X, Crowder JJ, Strober JW, Sullivan MA, Xue Y, Bennett CS, Perri AM, Evers BM, Roach PJ, Depaoli-Roach AA, Akman HO, Pederson BA, Minassian BA. Chown EE, et al. Among authors: minassian ba. Ann Clin Transl Neurol. 2020 Nov;7(11):2186-2198. doi: 10.1002/acn3.51211. Epub 2020 Oct 9. Ann Clin Transl Neurol. 2020. PMID: 33034425 Free PMC article.
Targeting Gys1 with AAV-SaCas9 Decreases Pathogenic Polyglucosan Bodies and Neuroinflammation in Adult Polyglucosan Body and Lafora Disease Mouse Models.
Gumusgoz E, Guisso DR, Kasiri S, Wu J, Dear M, Verhalen B, Nitschke S, Mitra S, Nitschke F, Minassian BA. Gumusgoz E, et al. Among authors: minassian ba. Neurotherapeutics. 2021 Apr;18(2):1414-1425. doi: 10.1007/s13311-021-01040-7. Epub 2021 Apr 8. Neurotherapeutics. 2021. PMID: 33830476 Free PMC article.
LUBAC: a new player in polyglucosan body disease.
Aboujaoude A, Minassian B, Mitra S. Aboujaoude A, et al. Biochem Soc Trans. 2021 Nov 1;49(5):2443-2454. doi: 10.1042/BST20210838. Biochem Soc Trans. 2021. PMID: 34709403 Free PMC article. Review.
230 results