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193 related items for PubMed ID: 21796727

  • 1. A mutation in SCARB2 is a modifier in Gaucher disease.
    Velayati A, DePaolo J, Gupta N, Choi JH, Moaven N, Westbroek W, Goker-Alpan O, Goldin E, Stubblefield BK, Kolodny E, Tayebi N, Sidransky E.
    Hum Mutat; 2011 Nov; 32(11):1232-8. PubMed ID: 21796727
    [Abstract] [Full Text] [Related]

  • 2. Lysosomal integral membrane protein-2: a new player in lysosome-related pathology.
    Gonzalez A, Valeiras M, Sidransky E, Tayebi N.
    Mol Genet Metab; 2014 Feb; 111(2):84-91. PubMed ID: 24389070
    [Abstract] [Full Text] [Related]

  • 3. Progressive myoclonus epilepsy with nephropathy C1q due to SCARB2/LIMP-2 deficiency: clinical report of two siblings.
    Chaves J, Beirão I, Balreira A, Gaspar P, Caiola D, Sá-Miranda MC, Lima JL.
    Seizure; 2011 Nov; 20(9):738-40. PubMed ID: 21782476
    [Abstract] [Full Text] [Related]

  • 4. A novel SCARB2 mutation in progressive myoclonus epilepsy indicated by reduced β-glucocerebrosidase activity.
    Zeigler M, Meiner V, Newman JP, Steiner-Birmanns B, Bargal R, Sury V, Mengistu G, Kakhlon O, Leykin I, Argov Z, Abramsky O, Lossos A.
    J Neurol Sci; 2014 Apr 15; 339(1-2):210-3. PubMed ID: 24485911
    [Abstract] [Full Text] [Related]

  • 5. Deficiency of Glucocerebrosidase Activity beyond Gaucher Disease: PSAP and LIMP-2 Dysfunctions.
    Pavan E, Peruzzo P, Cattarossi S, Bergamin N, Bordugo A, Sechi A, Scarpa M, Biasizzo J, Colucci F, Dardis A.
    Int J Mol Sci; 2024 Jun 16; 25(12):. PubMed ID: 38928321
    [Abstract] [Full Text] [Related]

  • 6. A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome.
    Balreira A, Gaspar P, Caiola D, Chaves J, Beirão I, Lima JL, Azevedo JE, Miranda MC.
    Hum Mol Genet; 2008 Jul 15; 17(14):2238-43. PubMed ID: 18424452
    [Abstract] [Full Text] [Related]

  • 7. Disease-causing mutations within the lysosomal integral membrane protein type 2 (LIMP-2) reveal the nature of binding to its ligand beta-glucocerebrosidase.
    Blanz J, Groth J, Zachos C, Wehling C, Saftig P, Schwake M.
    Hum Mol Genet; 2010 Feb 15; 19(4):563-72. PubMed ID: 19933215
    [Abstract] [Full Text] [Related]

  • 8. Biochemical and molecular findings in a patient with myoclonic epilepsy due to a mistarget of the beta-glucosidase enzyme.
    Dardis A, Filocamo M, Grossi S, Ciana G, Franceschetti S, Dominissini S, Rubboli G, Di Rocco M, Bembi B.
    Mol Genet Metab; 2009 Aug 15; 97(4):309-11. PubMed ID: 19454373
    [Abstract] [Full Text] [Related]

  • 9. Progressive myoclonus epilepsy without renal failure in a Chinese family with a novel mutation in SCARB2 gene and literature review.
    Tian WT, Liu XL, Xu YQ, Huang XJ, Zhou HY, Wang Y, Tang HD, Chen SD, Luan XH, Cao L.
    Seizure; 2018 Apr 15; 57():80-86. PubMed ID: 29605618
    [Abstract] [Full Text] [Related]

  • 10. Novel SCARB2 mutation in action myoclonus-renal failure syndrome and evaluation of SCARB2 mutations in isolated AMRF features.
    Hopfner F, Schormair B, Knauf F, Berthele A, Tölle TR, Baron R, Maier C, Treede RD, Binder A, Sommer C, Maihöfner C, Kunz W, Zimprich F, Heemann U, Pfeufer A, Näbauer M, Kääb S, Nowak B, Gieger C, Lichtner P, Trenkwalder C, Oexle K, Winkelmann J.
    BMC Neurol; 2011 Oct 27; 11():134. PubMed ID: 22032306
    [Abstract] [Full Text] [Related]

  • 11. Identification of miRNAs that modulate glucocerebrosidase activity in Gaucher disease cells.
    Siebert M, Westbroek W, Chen YC, Moaven N, Li Y, Velayati A, Saraiva-Pereira ML, Martin SE, Sidransky E.
    RNA Biol; 2014 Oct 27; 11(10):1291-300. PubMed ID: 25584808
    [Abstract] [Full Text] [Related]

  • 12. Genetics variants and expression of the SCARB2 gene in the pathogenesis of Parkinson's disease in Russia.
    Usenko TS, Bezrukova AI, Bogdanova DA, Kopytova AE, Senkevich KA, Gracheva EV, Timofeeva AA, Miliukhina IV, Zakharova EY, Emelyanov AK, Pchelina SN.
    Neurosci Lett; 2021 Jan 10; 741():135509. PubMed ID: 33227372
    [Abstract] [Full Text] [Related]

  • 13. Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis.
    Berkovic SF, Dibbens LM, Oshlack A, Silver JD, Katerelos M, Vears DF, Lüllmann-Rauch R, Blanz J, Zhang KW, Stankovich J, Kalnins RM, Dowling JP, Andermann E, Andermann F, Faldini E, D'Hooge R, Vadlamudi L, Macdonell RA, Hodgson BL, Bayly MA, Savige J, Mulley JC, Smyth GK, Power DA, Saftig P, Bahlo M.
    Am J Hum Genet; 2008 Mar 10; 82(3):673-84. PubMed ID: 18308289
    [Abstract] [Full Text] [Related]

  • 14. The LIMP-2/SCARB2 binding motif on acid β-glucosidase: basic and applied implications for Gaucher disease and associated neurodegenerative diseases.
    Liou B, Haffey WD, Greis KD, Grabowski GA.
    J Biol Chem; 2014 Oct 24; 289(43):30063-74. PubMed ID: 25202012
    [Abstract] [Full Text] [Related]

  • 15. Role of LIMP-2 in the intracellular trafficking of β-glucosidase in different human cellular models.
    Malini E, Zampieri S, Deganuto M, Romanello M, Sechi A, Bembi B, Dardis A.
    FASEB J; 2015 Sep 24; 29(9):3839-52. PubMed ID: 26018676
    [Abstract] [Full Text] [Related]

  • 16. Genotype-Phenotype correlations of SCARB2 associated clinical presentation: a case report and in-depth literature review.
    Atasu B, Acarlı ANO, Bilgic B, Baykan B, Demir E, Ozluk Y, Turkmen A, Hauser AK, Guven G, Hanagasi H, Gurvit H, Emre M, Gasser T, Lohmann E.
    BMC Neurol; 2022 Mar 28; 22(1):122. PubMed ID: 35346091
    [Abstract] [Full Text] [Related]

  • 17. A critical histidine residue within LIMP-2 mediates pH sensitive binding to its ligand β-glucocerebrosidase.
    Zachos C, Blanz J, Saftig P, Schwake M.
    Traffic; 2012 Aug 28; 13(8):1113-23. PubMed ID: 22537104
    [Abstract] [Full Text] [Related]

  • 18. Tubular proteinuria in mice and humans lacking the intrinsic lysosomal protein SCARB2/Limp-2.
    Desmond MJ, Lee D, Fraser SA, Katerelos M, Gleich K, Martinello P, Li YQ, Thomas MC, Michelucci R, Cole AJ, Saftig P, Schwake M, Stapleton D, Berkovic SF, Power DA.
    Am J Physiol Renal Physiol; 2011 Jun 28; 300(6):F1437-47. PubMed ID: 21429972
    [Abstract] [Full Text] [Related]

  • 19. Lysosomal integral membrane protein type-2 (LIMP-2/SCARB2) is a substrate of cathepsin-F, a cysteine protease mutated in type-B-Kufs-disease.
    Peters J, Rittger A, Weisner R, Knabbe J, Zunke F, Rothaug M, Damme M, Berkovic SF, Blanz J, Saftig P, Schwake M.
    Biochem Biophys Res Commun; 2015 Feb 13; 457(3):334-40. PubMed ID: 25576872
    [Abstract] [Full Text] [Related]

  • 20. Clinical and neurophysiologic features of progressive myoclonus epilepsy without renal failure caused by SCARB2 mutations.
    Rubboli G, Franceschetti S, Berkovic SF, Canafoglia L, Gambardella A, Dibbens LM, Riguzzi P, Campieri C, Magaudda A, Tassinari CA, Michelucci R.
    Epilepsia; 2011 Dec 13; 52(12):2356-63. PubMed ID: 22050460
    [Abstract] [Full Text] [Related]

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