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Journal Abstract Search

251 related items for PubMed ID: 17908927

  • 21.
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  • 22. Regulation of the autophagic PI3KC3 complex by laforin/malin E3-ubiquitin ligase, two proteins involved in Lafora disease.
    Sanchez-Martin P, Lahuerta M, Viana R, Knecht E, Sanz P.
    Biochim Biophys Acta Mol Cell Res; 2020 Feb; 1867(2):118613. PubMed ID: 31758957
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  • 24. Oxidative stress, a new hallmark in the pathophysiology of Lafora progressive myoclonus epilepsy.
    Romá-Mateo C, Aguado C, García-Giménez JL, Knecht E, Sanz P, Pallardó FV.
    Free Radic Biol Med; 2015 Nov; 88(Pt A):30-41. PubMed ID: 25680286
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  • 25. Lafora disease offers a unique window into neuronal glycogen metabolism.
    Gentry MS, Guinovart JJ, Minassian BA, Roach PJ, Serratosa JM.
    J Biol Chem; 2018 May 11; 293(19):7117-7125. PubMed ID: 29483193
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  • 28. 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 May 11; 34(5):390-5. PubMed ID: 25827695
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  • 29. Regulation of glycogen synthesis by the laforin-malin complex is modulated by the AMP-activated protein kinase pathway.
    Solaz-Fuster MC, Gimeno-Alcañiz JV, Ros S, Fernandez-Sanchez ME, Garcia-Fojeda B, Criado Garcia O, Vilchez D, Dominguez J, Garcia-Rocha M, Sanchez-Piris M, Aguado C, Knecht E, Serratosa J, Guinovart JJ, Sanz P, Rodriguez de Córdoba S.
    Hum Mol Genet; 2008 Mar 01; 17(5):667-78. PubMed ID: 18029386
    [Abstract] [Full Text] [Related]

  • 30. 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 Mar 01; 31(7):519-531. PubMed ID: 39021187
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  • 31.
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  • 32. Malin decreases glycogen accumulation by promoting the degradation of protein targeting to glycogen (PTG).
    Worby CA, Gentry MS, Dixon JE.
    J Biol Chem; 2008 Feb 15; 283(7):4069-76. PubMed ID: 18070875
    [Abstract] [Full Text] [Related]

  • 33. P-Rex1 is a novel substrate of the E3 ubiquitin ligase Malin associated with Lafora disease.
    Kumarasinghe L, Garcia-Gimeno MA, Ramirez J, Mayor U, Zugaza JL, Sanz P.
    Neurobiol Dis; 2023 Feb 15; 177():105998. PubMed ID: 36638890
    [Abstract] [Full Text] [Related]

  • 34. Molecular characterization of glycogen storage disease type III.
    Shen JJ, Chen YT.
    Curr Mol Med; 2002 Mar 15; 2(2):167-75. PubMed ID: 11949933
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  • 35. 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 15; 54(11):681-6. PubMed ID: 19834502
    [Abstract] [Full Text] [Related]

  • 36. 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 15; 22(6):762-3. PubMed ID: 10472540
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  • 37. 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 15; 14(6):542-3. PubMed ID: 10571954
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  • 38. 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 Dec 15; 47(10):1233-8. PubMed ID: 19754354
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  • 39. 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 15; 22(4):337. PubMed ID: 12955720
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  • 40. 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 15; 12(7):424-30. PubMed ID: 20648714
    [Abstract] [Full Text] [Related]

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