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230 related items for PubMed ID: 24586687

  • 1. Gene expression alterations in the cerebellum and granule neurons of Cstb(-/-) mouse are associated with early synaptic changes and inflammation.
    Joensuu T, Tegelberg S, Reinmaa E, Segerstråle M, Hakala P, Pehkonen H, Korpi ER, Tyynelä J, Taira T, Hovatta I, Kopra O, Lehesjoki AE.
    PLoS One; 2014; 9(2):e89321. PubMed ID: 24586687
    [Abstract] [Full Text] [Related]

  • 2. Brain inflammation is accompanied by peripheral inflammation in Cstb -/- mice, a model for progressive myoclonus epilepsy.
    Okuneva O, Li Z, Körber I, Tegelberg S, Joensuu T, Tian L, Lehesjoki AE.
    J Neuroinflammation; 2016 Nov 28; 13(1):298. PubMed ID: 27894304
    [Abstract] [Full Text] [Related]

  • 3. Abnormal microglial activation in the Cstb(-/-) mouse, a model for progressive myoclonus epilepsy, EPM1.
    Okuneva O, Körber I, Li Z, Tian L, Joensuu T, Kopra O, Lehesjoki AE.
    Glia; 2015 Mar 28; 63(3):400-11. PubMed ID: 25327891
    [Abstract] [Full Text] [Related]

  • 4. The Roles of Cystatin B in the Brain and Pathophysiological Mechanisms of Progressive Myoclonic Epilepsy Type 1.
    Singh S, Hämäläinen RH.
    Cells; 2024 Jan 16; 13(2):. PubMed ID: 38247861
    [Abstract] [Full Text] [Related]

  • 5. Gene-Expression Profiling Suggests Impaired Signaling via the Interferon Pathway in Cstb-/- Microglia.
    Körber I, Katayama S, Einarsdottir E, Krjutškov K, Hakala P, Kere J, Lehesjoki AE, Joensuu T.
    PLoS One; 2016 Jan 16; 11(6):e0158195. PubMed ID: 27355630
    [Abstract] [Full Text] [Related]

  • 6. Quantitative Changes in the Mitochondrial Proteome of Cerebellar Synaptosomes From Preclinical Cystatin B-Deficient Mice.
    Gorski K, Spoljaric A, Nyman TA, Kaila K, Battersby BJ, Lehesjoki AE.
    Front Mol Neurosci; 2020 Jan 16; 13():570640. PubMed ID: 33281550
    [Abstract] [Full Text] [Related]

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  • 8. Early microglial activation precedes neuronal loss in the brain of the Cstb-/- mouse model of progressive myoclonus epilepsy, EPM1.
    Tegelberg S, Kopra O, Joensuu T, Cooper JD, Lehesjoki AE.
    J Neuropathol Exp Neurol; 2012 Jan 16; 71(1):40-53. PubMed ID: 22157618
    [Abstract] [Full Text] [Related]

  • 9. Altered tryptophan metabolism in the brain of cystatin B-deficient mice: a model system for progressive myoclonus epilepsy.
    Vaarmann A, Kaasik A, Zharkovsky A.
    Epilepsia; 2006 Oct 16; 47(10):1650-4. PubMed ID: 17054687
    [Abstract] [Full Text] [Related]

  • 10. The epilepsy, the protease inhibitor and the dodecamer: progressive myoclonus epilepsy, cystatin b and a 12-mer repeat expansion.
    Lalioti MD, Antonarakis SE, Scott HS.
    Cytogenet Genome Res; 2003 Oct 16; 100(1-4):213-23. PubMed ID: 14526183
    [Abstract] [Full Text] [Related]

  • 11. Cystatin B: mutation detection, alternative splicing and expression in progressive myclonus epilepsy of Unverricht-Lundborg type (EPM1) patients.
    Joensuu T, Kuronen M, Alakurtti K, Tegelberg S, Hakala P, Aalto A, Huopaniemi L, Aula N, Michellucci R, Eriksson K, Lehesjoki AE.
    Eur J Hum Genet; 2007 Feb 16; 15(2):185-93. PubMed ID: 17003839
    [Abstract] [Full Text] [Related]

  • 12. Loss of lysosomal association of cystatin B proteins representing progressive myoclonus epilepsy, EPM1, mutations.
    Alakurtti K, Weber E, Rinne R, Theil G, de Haan GJ, Lindhout D, Salmikangas P, Saukko P, Lahtinen U, Lehesjoki AE.
    Eur J Hum Genet; 2005 Feb 16; 13(2):208-15. PubMed ID: 15483648
    [Abstract] [Full Text] [Related]

  • 13. Pathological Deficit of Cystatin B Impairs Synaptic Plasticity in EPM1 Human Cerebral Organoids.
    Pizzella A, Penna E, Abate N, Frenna E, Canafoglia L, Ragona F, Russo R, Chambery A, Perrone-Capano C, Cappello S, Crispino M, Di Giaimo R.
    Mol Neurobiol; 2024 Jul 16; 61(7):4318-4334. PubMed ID: 38087165
    [Abstract] [Full Text] [Related]

  • 14. Altered spacing of promoter elements due to the dodecamer repeat expansion contributes to reduced expression of the cystatin B gene in EPM1.
    Lalioti MD, Scott HS, Antonarakis SE.
    Hum Mol Genet; 1999 Sep 16; 8(9):1791-8. PubMed ID: 10441345
    [Abstract] [Full Text] [Related]

  • 15. Characterization of the cystatin B gene promoter harboring the dodecamer repeat expanded in progressive myoclonus epilepsy, EPM1.
    Alakurtti K, Virtaneva K, Joensuu T, Palvimo JJ, Lehesjoki AE.
    Gene; 2000 Jan 25; 242(1-2):65-73. PubMed ID: 10721698
    [Abstract] [Full Text] [Related]

  • 16. Progressive volume loss and white matter degeneration in cstb-deficient mice: a diffusion tensor and longitudinal volumetry MRI study.
    Manninen O, Laitinen T, Lehtimäki KK, Tegelberg S, Lehesjoki AE, Gröhn O, Kopra O.
    PLoS One; 2014 Jan 25; 9(6):e90709. PubMed ID: 24603771
    [Abstract] [Full Text] [Related]

  • 17. Cystatin B deficiency sensitizes neurons to oxidative stress in progressive myoclonus epilepsy, EPM1.
    Lehtinen MK, Tegelberg S, Schipper H, Su H, Zukor H, Manninen O, Kopra O, Joensuu T, Hakala P, Bonni A, Lehesjoki AE.
    J Neurosci; 2009 May 06; 29(18):5910-5. PubMed ID: 19420257
    [Abstract] [Full Text] [Related]

  • 18. [From gene to disease; progressive myoclonus epilepsy of Unverricht-Lundborg and mutations in the cystatin B gene].
    de Haan GJ, Halley DJ, Deelen WH, Lindhout D.
    Ned Tijdschr Geneeskd; 2002 May 04; 146(18):846-8. PubMed ID: 12038222
    [Abstract] [Full Text] [Related]

  • 19. White matter degeneration with Unverricht-Lundborg progressive myoclonus epilepsy: a translational diffusion-tensor imaging study in patients and cystatin B-deficient mice.
    Manninen O, Koskenkorva P, Lehtimäki KK, Hyppönen J, Könönen M, Laitinen T, Kalimo H, Kopra O, Kälviäinen R, Gröhn O, Lehesjoki AE, Vanninen R.
    Radiology; 2013 Oct 04; 269(1):232-9. PubMed ID: 23788720
    [Abstract] [Full Text] [Related]

  • 20. Impaired osteoclast homeostasis in the cystatin B-deficient mouse model of progressive myoclonus epilepsy.
    Manninen O, Puolakkainen T, Lehto J, Harittu E, Kallonen A, Peura M, Laitala-Leinonen T, Kopra O, Kiviranta R, Lehesjoki AE.
    Bone Rep; 2015 Dec 04; 3():76-82. PubMed ID: 28377970
    [Abstract] [Full Text] [Related]

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