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186 related items for PubMed ID: 19299494

  • 1. Distinct mutations in the glycogen debranching enzyme found in glycogen storage disease type III lead to impairment in diverse cellular functions.
    Cheng A, Zhang M, Okubo M, Omichi K, Saltiel AR.
    Hum Mol Genet; 2009 Jun 01; 18(11):2045-52. PubMed ID: 19299494
    [Abstract] [Full Text] [Related]

  • 2. Molecular features of 23 patients with glycogen storage disease type III in Turkey: a novel mutation p.R1147G associated with isolated glucosidase deficiency, along with 9 AGL mutations.
    Aoyama Y, Ozer I, Demirkol M, Ebara T, Murase T, Podskarbi T, Shin YS, Gokcay G, Okubo M.
    J Hum Genet; 2009 Nov 01; 54(11):681-6. PubMed ID: 19834502
    [Abstract] [Full Text] [Related]

  • 3. Egyptian glycogen storage disease type III - identification of six novel AGL mutations, including a large 1.5 kb deletion and a missense mutation p.L620P with subtype IIId.
    Endo Y, Fateen E, El Shabrawy M, Aoyama Y, Ebara T, Murase T, Podskarbi T, Shin YS, Okubo M.
    Clin Chem Lab Med; 2009 Nov 01; 47(10):1233-8. PubMed ID: 19754354
    [Abstract] [Full Text] [Related]

  • 4. A role for AGL ubiquitination in the glycogen storage disorders of Lafora and Cori's disease.
    Cheng A, Zhang M, Gentry MS, Worby CA, Dixon JE, Saltiel AR.
    Genes Dev; 2007 Oct 01; 21(19):2399-409. PubMed ID: 17908927
    [Abstract] [Full Text] [Related]

  • 5. Glycogen storage disease type IIIa: first report of a causative missense mutation (G1448R) of the glycogen debranching enzyme gene found in a homozygous patient.
    Okubo M, Kanda F, Horinishi A, Takahashi K, Okuda S, Chihara K, Murase T.
    Hum Mutat; 1999 Dec 01; 14(6):542-3. PubMed ID: 10571954
    [Abstract] [Full Text] [Related]

  • 6. Crystal structure of glycogen debranching enzyme and insights into its catalysis and disease-causing mutations.
    Zhai L, Feng L, Xia L, Yin H, Xiang S.
    Nat Commun; 2016 Apr 18; 7():11229. PubMed ID: 27088557
    [Abstract] [Full Text] [Related]

  • 7. Mutational analysis of the AGL gene: five novel mutations in GSD III patients.
    Lucchiari S, Donati MA, Melis D, Filocamo M, Parini R, Bresolin N, Comi GP.
    Hum Mutat; 2003 Oct 18; 22(4):337. PubMed ID: 12955720
    [Abstract] [Full Text] [Related]

  • 8. Molecular characterization of glycogen storage disease type III.
    Shen JJ, Chen YT.
    Curr Mol Med; 2002 Mar 18; 2(2):167-75. PubMed ID: 11949933
    [Abstract] [Full Text] [Related]

  • 9. A mutation analysis of the AGL gene in Korean patients with glycogen storage disease type III.
    Ko JS, Moon JS, Seo JK, Yang HR, Chang JY, Park SS.
    J Hum Genet; 2014 Jan 18; 59(1):42-5. PubMed ID: 24257475
    [Abstract] [Full Text] [Related]

  • 10. A Functional Human Glycogen Debranching Enzyme Encoded by a Synthetic Gene: Its Implications for Glycogen Storage Disease Type III Management.
    Triggiani D, Demurtas OC, Illiano E, Massa S, Pasquo A, Dionisi-Vici C, Marino C, Giuliano G, Franconi R.
    Protein Pept Lett; 2024 Jan 18; 31(7):519-531. PubMed ID: 39021187
    [Abstract] [Full Text] [Related]

  • 11. [Molecular genetic analysis of 10 Chinese patients with glycogen storage disease type III].
    Wang X, Qiu WJ, Ye J, Han LS, Zhang HW, Jiang LR, Zhang YF, Gu XF.
    Zhonghua Er Ke Za Zhi; 2009 Jun 18; 47(6):416-20. PubMed ID: 19951465
    [Abstract] [Full Text] [Related]

  • 12. Expression of a Functional Recombinant Human Glycogen Debranching Enzyme (hGDE) in N. benthamiana Plants and in Hairy Root Cultures.
    Rodriguez-Hernandez M, Triggiani D, Ivison F, Demurtas OC, Illiano E, Marino C, Franconi R, Massa S.
    Protein Pept Lett; 2020 Jun 18; 27(2):145-157. PubMed ID: 31622193
    [Abstract] [Full Text] [Related]

  • 13. Clinical and genetic variability of glycogen storage disease type IIIa: seven novel AGL gene mutations in the Mediterranean area.
    Lucchiari S, Fogh I, Prelle A, Parini R, Bresolin N, Melis D, Fiori L, Scarlato G, Comi GP.
    Am J Med Genet; 2002 May 01; 109(3):183-90. PubMed ID: 11977176
    [Abstract] [Full Text] [Related]

  • 14. [Mutation analysis of glycogen debrancher enzyme gene in five Chinese patients with glycogen storage disease type III].
    Zhuang TF, Qiu ZQ, Wei M, Huang SZ.
    Zhonghua Er Ke Za Zhi; 2005 Feb 01; 43(2):85-8. PubMed ID: 15833157
    [Abstract] [Full Text] [Related]

  • 15. [AGL gene analysis of a pedigree with glycogen storage disease type III and identification of a novel mutation].
    Wu XY, Pan JX, Guo YB.
    Zhonghua Er Ke Za Zhi; 2013 Dec 01; 51(12):915-9. PubMed ID: 24495762
    [Abstract] [Full Text] [Related]

  • 16. Molecular analysis of the AGL gene: identification of 25 novel mutations and evidence of genetic heterogeneity in patients with Glycogen Storage Disease Type III.
    Goldstein JL, Austin SL, Boyette K, Kanaly A, Veerapandiyan A, Rehder C, Kishnani PS, Bali DS.
    Genet Med; 2010 Jul 01; 12(7):424-30. PubMed ID: 20648714
    [Abstract] [Full Text] [Related]

  • 17. A founder splice site mutation underlies glycogen storage disease type 3 in consanguineous Saudi families.
    Basit S, Malibari O, Al Balwi AM, Abdusamad F, Abu Ismail F.
    Ann Saudi Med; 2014 Jul 01; 34(5):390-5. PubMed ID: 25827695
    [Abstract] [Full Text] [Related]

  • 18. Rescue of GSDIII Phenotype with Gene Transfer Requires Liver- and Muscle-Targeted GDE Expression.
    Vidal P, Pagliarani S, Colella P, Costa Verdera H, Jauze L, Gjorgjieva M, Puzzo F, Marmier S, Collaud F, Simon Sola M, Charles S, Lucchiari S, van Wittenberghe L, Vignaud A, Gjata B, Richard I, Laforet P, Malfatti E, Mithieux G, Rajas F, Comi GP, Ronzitti G, Mingozzi F.
    Mol Ther; 2018 Mar 07; 26(3):890-901. PubMed ID: 29396266
    [Abstract] [Full Text] [Related]

  • 19. Novel donor splice site mutations of AGL gene in glycogen storage disease type IIIa.
    Hadjigeorgiou GM, Comi GP, Bordoni A, Shen J, Chen YT, Salani S, Toscano A, Fortunato F, Lucchiari S, Bresolin N, Rodolico C, Piscaglia MG, Franceschina L, Papadimitriou A, Scarlato G.
    J Inherit Metab Dis; 1999 Aug 07; 22(6):762-3. PubMed ID: 10472540
    [No Abstract] [Full Text] [Related]

  • 20. Biochemical and molecular investigation of two Korean patients with glycogen storage disease type III.
    Oh SH, Park HD, Ki CS, Choe YH, Lee SY.
    Clin Chem Lab Med; 2008 Aug 07; 46(9):1245-9. PubMed ID: 18785866
    [Abstract] [Full Text] [Related]

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