Crespel A, Ferlazzo E, Franceschetti S, Genton P, Gouider R, Kalviainen R, et al. Unverricht-Lundborg disease. Epileptic Disord. 2016;18:28–37.
Lalioti MD, Scott HS, Buresi C, Rossier C, Bottani A, Morris MA, et al. Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy. Nature. 1997;386:847–51.
Article CAS PubMed Google Scholar
Joensuu T, Lehesjoki AE, Kopra O. Molecular background of EPM1-Unverricht-Lundborg disease. Epilepsia. 2008;49:557–63.
Article CAS PubMed Google Scholar
Mancini GM, Schot R, de Wit MC, de Coo RF, Oostenbrink R, Bindels-de Heus K, et al. CSTB null mutation associated with microcephaly, early developmental delay, and severe dyskinesia. Neurology. 2016;86:877–8.
O’Brien A, Marshall CR, Blaser S, Ray PN, Yoon G. Severe neurodegeneration, progressive cerebral volume loss and diffuse hypomyelination associated with a homozygous frameshift mutation in CSTB. Eur J Hum Genet. 2017;25:775–8.
Article PubMed PubMed Central Google Scholar
Di Matteo F, Pipicelli F, Kyrousi C, Tovecci I, Penna E, Crispino M, et al. Cystatin B is essential for proliferation and interneuron migration in individuals with EPM1 epilepsy. EMBO Mol Med. 2020;12:e11419.
Article PubMed PubMed Central Google Scholar
Pennacchio LA, Bouley DM, Higgins KM, Scott MP, Noebels JL, Myers RM. Progressive ataxia, myoclonic epilepsy and cerebellar apoptosis in cystatin B-deficient mice. Nat Genet. 1998;20:251–8.
Article CAS PubMed Google Scholar
Wang D, Tai PWL, Gao G. Adeno-associated virus vector as a platform for gene therapy delivery. Nat Rev Drug Discov. 2019;18:358–78.
Article CAS PubMed PubMed Central Google Scholar
Lykken EA, Shyng C, Edwards RJ, Rozenberg A, Gray SJ. Recent progress and considerations for AAV gene therapies targeting the central nervous system. J Neurodev Disord. 2018;10:16.
Article PubMed PubMed Central Google Scholar
Shannon P, Pennacchio LA, Houseweart MK, Minassian BA, Myers RM. Neuropathological changes in a mouse model of progressive myoclonus epilepsy: cystatin B deficiency and Unverricht-Lundborg disease. J Neuropathol Exp Neurol. 2002;61:1085–91.
Franceschetti S, Sancini G, Buzzi A, Zucchini S, Paradiso B, Magnaghi G, et al. A pathogenetic hypothesis of Unverricht-Lundborg disease onset and progression. Neurobiol Dis. 2007;25:675–85.
Article CAS PubMed Google Scholar
Husi H, Fernandes M, Skipworth RJ, Miller J, Cronshaw AD, Fearon KCH, et al. Identification of diagnostic upper gastrointestinal cancer tissue type-specific urinary biomarkers. Biomed Rep. 2019;10:165–74.
CAS PubMed PubMed Central Google Scholar
Tegelberg S, Kopra O, Joensuu T, Cooper JD, Lehesjoki AE. Early microglial activation precedes neuronal loss in the brain of the Cstb−/− mouse model of progressive myoclonus epilepsy, EPM1. J Neuropathol Exp Neurol. 2012;71:40–53.
Article CAS PubMed Google Scholar
Sanz P, Serratosa JM. Neuroinflammation and progressive myoclonus epilepsies: from basic science to therapeutic opportunities. Expert Rev Mol Med. 2020;22:e4.
Article CAS PubMed PubMed Central Google Scholar
Okuneva O, Korber I, Li Z, Tian L, Joensuu T, Kopra O, et al. Abnormal microglial activation in the Cstb(−/−) mouse, a model for progressive myoclonus epilepsy, EPM1. Glia. 2015;63:400–11.
Okuneva O, Li Z, Korber I, Tegelberg S, Joensuu T, Tian L, et al. Brain inflammation is accompanied by peripheral inflammation in Cstb (−/−) mice, a model for progressive myoclonus epilepsy. J Neuroinflammation. 2016;13:298.
Article PubMed PubMed Central Google Scholar
Manninen O, Koskenkorva P, Lehtimaki KK, Hypponen J, Kononen M, Laitinen T, et al. White matter degeneration with Unverricht-Lundborg progressive myoclonus epilepsy: a translational diffusion-tensor imaging study in patients and cystatin B-deficient mice. Radiology. 2013;269:232–9.
Manninen O, Laitinen T, Lehtimaki KK, Tegelberg S, Lehesjoki AE, Grohn O, et al. Progressive volume loss and white matter degeneration in cstb-deficient mice: a diffusion tensor and longitudinal volumetry MRI study. PLoS One. 2014;9:e90709.
Article PubMed PubMed Central Google Scholar
Sipila JOT, Hypponen J, Kyto V, Kalviainen R. Unverricht-Lundborg disease (EPM1) in Finland: a nationwide population-based study. Neurology. 2020;95:e3117–e23.
Article PubMed PubMed Central Google Scholar
Norio R, Koskiniemi M. Progressive myoclonus epilepsy: genetic and nosological aspects with special reference to 107 Finnish patients. Clin Genet. 1979;15:382–98.
Article CAS PubMed Google Scholar
Paulson H. Repeat expansion diseases. Handb Clin Neurol. 2018;147:105–23.
Article PubMed PubMed Central Google Scholar
Nitschke F, Ahonen SJ, Nitschke S, Mitra S, Minassian BA. Lafora disease - from pathogenesis to treatment strategies. Nat Rev Neurol. 2018;14:606–17.
Article CAS PubMed PubMed Central Google Scholar
Alakurtti K, Weber E, Rinne R, Theil G, de Haan GJ, Lindhout D, et al. Loss of lysosomal association of cystatin B proteins representing progressive myoclonus epilepsy, EPM1, mutations. Eur J Hum Genet. 2005;13:208–15.
Article CAS PubMed Google Scholar
Zerovnik E. Human stefin B: from its structure, folding, and aggregation to its function in health and disease. Front Mol Neurosci. 2022;15:1009976.
Article CAS PubMed PubMed Central Google Scholar
Kopitar-Jerala N. The role of stefin B in neuro-inflammation. Front Cell Neurosci. 2015;9:458.
Article PubMed PubMed Central Google Scholar
Penna E, Cerciello A, Chambery A, Russo R, Cernilogar FM, Pedone EM, et al. Cystatin B involvement in synapse physiology of rodent brains and human cerebral organoids. Front Mol Neurosci. 2019;12:195.
Article CAS PubMed PubMed Central Google Scholar
Daura E, Tegelberg S, Yoshihara M, Jackson C, Simonetti F, Aksentjeff K, et al. Cystatin B-deficiency triggers ectopic histone H3 tail cleavage during neurogenesis. Neurobiol Dis. 2021;156:105418.
Article CAS PubMed Google Scholar
Xu TT, Zeng XW, Wang XH, Yang LX, Luo G, Yu T. Cystatin-B negatively regulates the malignant characteristics of oral squamous cell carcinoma possibly via the epithelium proliferation/differentiation program. Front Oncol. 2021;11:707066.
Article CAS PubMed PubMed Central Google Scholar
Lehtinen MK, Tegelberg S, Schipper H, Su H, Zukor H, Manninen O, et al. Cystatin B deficiency sensitizes neurons to oxidative stress in progressive myoclonus epilepsy, EPM1. J Neurosci. 2009;29:5910–5.
Article CAS PubMed PubMed Central Google Scholar
Ceru S, Konjar S, Maher K, Repnik U, Krizaj I, Bencina M, et al. Stefin B interacts with histones and cathepsin L in the nucleus. J Biol Chem. 2010;285:10078–86.
Article CAS PubMed PubMed Central Google Scholar
Chakrabarty P, Rosario A, Cruz P, Siemienski Z, Ceballos-Diaz C, Crosby K, et al. Capsid serotype and timing of injection determines AAV transduction in the neonatal mice brain. PLoS One. 2013;8:e67680.
Article CAS PubMed PubMed Central Google Scholar
Hollidge BS, Carroll HB, Qian R, Fuller ML, Giles AR, Mercer AC, et al. Kinetics and durability of transgene expression after intrastriatal injection of AAV9 vectors. Front Neurol. 2022;13:1051559.
Article PubMed PubMed Central Google Scholar
Zincarelli C, Soltys S, Rengo G, Rabinowitz JE. Analysis of AAV serotypes 1-9 mediated gene expression and tropism in mice after systemic injection. Mol Ther. 2008;16:1073–80.
Article CAS PubMed Google Scholar
Reimsnider S, Manfredsson FP, Muzyczka N, Mandel RJ. Time course of transgene expression after intrastriatal pseudotyped rAAV2/1, rAAV2/2, rAAV2/5, and rAAV2/8 transduction in the rat. Mol Ther. 2007;15:1504–11.
Article CAS PubMed Google Scholar
Chew NK, Mir P, Edwards MJ, Cordivari C, Martino D, Schneider SA, et al. The natural history of Unverricht-Lundborg disease: a report of eight genetically proven cases. Mov Disord. 2008;23:107–13.
Magaudda A, Ferlazzo E, Nguyen VH, Genton P. Unverricht-Lundborg disease, a condition with self-limited progression: long-term follow-up of 20 patients. Epilepsia. 2006;47:860–6.
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