| Holm Graessner, Olaf Riess: EUROSCA. Europäisches Großproject zur Erforschung von Ataxien startet. Medizinische Genetik, März 2004. |
| EU press release: FP6 helps the fight against rare degenerative diseases |
| Schöls L, Bauer P, Schmidt T, Schulte T, Riess O. Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis. Lancet Neurol. 2004 May;3(5):291-304. Review. |
| Poster, presented on ESHG (European Society for Human Genetics, Munich, June) and ENS (European Neurological Society, Barcelona, June) meetings 2004 |
| New protein family links neurodegenerative diseases and cancers A.Matilla and M.Radrizzani. The Anp32 family of proteins containing Leucine-rich repeats (LRRs). Cerebellum 4 (1), 7-18 (2005). |
| Nicastro G, Menon RP, Masino L, Knowles PP, McDonald NQ, Pastore A. The solution structure of the Josephin domain of ataxin-3: Structural determinants for molecular recognition. Proc Natl Acad Sci U S A. 2005 Jul 14; [Epub ahead of print]. |
| T. Schmitz-Huebsch et .al. Scale for the Assessment and Rating of Ataxia. Development and Validation of a new ataxia scale. Poster presented at meeting of German Society of Neurology in wiesbaden 2005.
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Brussino A, Gellera C, Saluto A, Mariotti C, Arduino C, Castellotti B, Camerlingo M, de Angelis V, Orsi L, Tosca P, Migone N, Taroni F, Brusco A. FMR1 gene premutation is a frequent cause of late onset sporadic cerebellar ataxia. Neurology 2005;64: 145-147
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Sulek A. Krysa W.: Możliwości diagnostyki molekularnej w wybranych poliglutaminopatiach neurodegeneracyjnych. Aktualn. Neurol., 2005 2 (5) 98-102
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Sobczyk W., Pilkowska E., Sulek A., Niewiadomska M., Rakowicz M., Poniatowska R., Ryterski J., Palka L., Goszczańska-Ciuchta A.:[Cronic cerebellar syndromes], Przewlekłe zespoły mózdżkowe. Postępy Psych. Neurol., 2005, 14 (1), 11-18
Niewiadomska M., Rakowicz M., Zdzienicka E., Wochnik-Dyjas D., Milewska D., Pilkowska E., Sulek A., Hoffman-Zacharska D., Zaremba J., Glazowski C., Wieclawska M., Inglot E.: [Electrophysiologic findings in SCA1 – own experience], Obraz elektrofizjologiczny w przypadkach SCA1 – badanie własne. Aktualn. Neurol., 2005 2 (5) 112-116
Rakowicz M, Rola R, Derejko M, Zdzienicka E, Poniatowska R, Sułek A, Szirkowiec W, Inglot E, Niewiadomska M. Motor cortex excitability threshold and silent period evoked by transcranial magnetic stimulation in spinocerebellar ataxia. Acta Neurobiol.Exp., 2005, 65, 332, poster presented at 7th International Congress Polish Neuroscience Society, Krakow, Poland, 07-10.09.2005
Rakowicz M, Rola R, Zdzienicka E, Sułek A, Poniatowska R, Niewiadomska M, Szirkowiec W, Inglot E, Zalewska U, Zaremba J. Clinical features and alterations of motor and somatosensory pathways function in patients with spinocerebellar ataxias type 1 and type 2. J.Neurol.Sci., 2005, 23, Suppl. 1, S 60, oral presentation during XVIIIth World Congress of Neurology, Sydney (Australia), 5-11.11.2005
Stevanin G, Durr A, Benammar N, Brice A. Spinocerebellar ataxia with mental retardation (SCA13). The Cerebellum 2005, 4 :43-46.
Waters M, Minassian N, Stevanin G, Figueroa K, Nolte D, Bannister J, Mock A, Evidente V, Fee D, Muller U, Durr A, Brice A, Papazian D, Pulst S. Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes. Nat Genet. 2006 Apr;38(4):447-451.
Stevanin G, Broussolle E, Streichenberger N, Kopp N, Brice A, Durr A. Spinocerebellar ataxia with sensory neuropathy (SCA25). The Cerebellum 2005, 4 :58-61.
Klebe S, Durr A, Rentschler A, Hahn-Barma V, Abele M, Bouslam N, Schöls L, Jedynak P, Forlani S, Dussert C, Agid Y, Bauer P, Globas C, Wüllner U, Brice A, Riess O, Stevanin G. New mutations of Protein Kinase Cγ associated with Spinocerebellar Ataxia Type 14 (SCA14). Ann Neurol 2005; 58:720-729.
B.P.C. van de Warrenburg, H. Hendriks, A. Dürr, M.C.A. van Zuijlen, G. Stevanin, A. Camuzat, R.J. Sinke, A. Brice, H.P.H. Kremer. Age at onset variance analysis in spinocerebellar ataxias: a study in a large Dutch-French cohort. Ann Neurol. 2005 Apr;57(4):505-12.
Khan NL, Giunti P, Sweeney MB, Sherlefer C, O Brien M, Piccini P, Wood NW, Lees AJ. Parkinsonism and nigrostriatal dysfundtion are associated with spinocerebellar ataxia type 6 (SCA6). Mov Disord. 2005 Jun 13
Hellenbroich Y., Pawlack H., Rüb U., Schwinger E., Zühlke Ch. 2005 Spinocerebellar ataxia type 4: Investigation of 34 candidate genes. Journal of Neurology 252:1472-1475
Hellenbroich Y., Gierga K., Reusche E., Schwinger E., Deller T., de Vos R.A.I., Zühlke Ch., Rüb U. 2005 Spinocerebellar ataxia type 4 (SCA4): initial pathoanatomical study reveals widespread cerebellar and brainstem degeneration. Journal of Neural transmission, Epub Dec 19, 2005
Albrecht M, Golatta M, Wüllner U, Lengauer T (2004): Structural and Functional Analysis of Ataxin-2 and Ataxin-3. European Journal of Biochemistry, 271, 3155-3170.
Berger Z, Ravikumar B, Menzies FM, Garcia Oroz L, Underwood BR, Pangalos MN, Schmitt I, Wüllner U, Evert BO, O'kane CJ, Rubinsztein DC. Rapamycin alleviates toxicity of different aggregate-prone proteins. Hum Mol Genet. 2005 Dec 20; [Epub ahead of print]
Mueller T, Evert BO, Wüllner U. Phosphorylation of Ataxin3. Society for Neuroscience Abstracts, 2005
Jeub M, Herbst M, Spauschus A, Fleischer H, Beck H, Klockgether T, Wüllner U, Evert BO. Altered function of delayed-rectifier potassium channels and depolarized resting membrane potential precedes cell death in a cell model of SCA3. Experimental Neurology, submitted
Latouche M, Fragner P, Martin E, El Hachimi KH, Zander C, Sittler A, Ruberg M, Brice A, Stevanin G. A Polyglutamine and polyalanine expansions in ataxin 7 result in different types of aggregation and levels of toxicity. Mol Cell Neurosci 2006, In press.
Latouche M*, Lasbleiz C*, Martin E, Monnier V, Debeir T, Prigent A, Muriel MP, Brice A, Stevanin G, Tricoire H. Late onset degeneration of the nervous system, reversible neuronal specific impairments and identification of modifier genes in a Drosophila inducible model of a polyglutamine disease, SCA7. Submitted. * equal contributions.
Janer A., Martin E., Muriel MP., Latouche M., Fujigasaki H., Brice A., Trottier Y. and Sittler A. PML clastosome bodies prevent the aberrant nuclear accumulation of mutant ataxin-7 and other polyglutamine proteins. Submitted.
B Ravikumar, A Acevedo-Arozena, S Imarisio, Z Berger, C Vacher, CJ O’Kane, SDM Brown and DC Rubinsztein. Dynein mutations impair autophagic clearance of aggregate-prone proteins. Nature Genetics (2005) 37:771-776
S Sarkar, RA Floto, Z Berger, S Imarisio, A Cordenier, M Pasco, LJ Cook and DC Rubinsztein. Lithium induces autophagy by inhibiting inositol monophosphatase. Journal of Cell Biology (2005) 170: 1101-1111.
DC Rubinsztein, B Ravikumar, A Acevedo-Arozena, S Imarisio, CJO’Kane, and SDM Brown. Dyneins, autophagy, aggregation and neurodegeneration. Autophagy (2005) 1: 177-178.
DC Rubinsztein, M DiFiglia, N Heintz, RA Nixon, Z-H Qin, B Ravikumar, L Stefanis and A Tolkovsky. Autophagy and its possible roles in nervous system diseases, damage and repair. Autophagy (2005) 1, 11-22
Z Berger, B Ravikumar, FM. Menzies, L Garcia Oroz, BR Underwood, MN Pangalos, I Schmitt, U Wullner, BO Evert, CJ O’Kane, and DC Rubinsztein. Rapamycin alleviates toxicity of different aggregate-prone proteins. Human Molecular Genetics (In Press).
Luis Velazquez-Perez, Carola Seifried, Michael Abele, Florentina Wirjatijasa, Nieves Santos-Falcon, Edilberto Martinez-Gongora, Gilberto Sanchez-Cruz, Luis Almaguer-Mederos, Rafael Carralero, Nalia Canales-Ochoa, Michael Fetter, Ulf Ziemann, Thomas Klockgether, Georg Auburger. Saccade velocity reduced in presymptomatic Spinocerebellar Ataxia type 2 (SCA2). Submitted.
Inka Tuin, Ursula Voss, Jun-Suk Kang, Kirn Kessler, Christian Menzel, Dagmar Nolte, Hans Lochmüller, Sigrid Tinschert, Detlef Claus, Thomas Klockgether, Helmuth Steinmetz, Georg Auburger. Polysomnographic findings in hereditary spinocerebellar ataxia type 2 (SCA2). Submitted.
Helmlinger D, Hardy S, Abou-Sleymane G, Eberlin A, Bowman AB, Gansmuller A, Picaud S, Zoghbi HY, Trottier Y, Tora L, & Devys D. Polyglutamine-expanded Ataxin-7 mediates aberrant recruitment of TFTC-type complexes and chromatin decondensation leading to photoreceptor dysfunction in Spinocerebellar ataxia type 7. PLoS Biology, (in press).
Abou-Sleymane G, Chalmel F, Helmlinger D, Lardenois A, Thibault C, Weber C, Merienne K, Mandel JL, Poch O, Devys D & Trottier Y. Polyglutamine expansion causes neurodegeneration by altering the neuronal differentiation program Hum. Mol. Genet. (in press)
Merienne K, Friedman J, Akimoto M, Abou-Sleymane G, Weber C, Swaroop A & Trottier Y. Preventing polyglutamine-induced activation of c-Jun delays neuronal dysfunction in the SCA7 retinopathy mouse by modulating NRL expression. Hum. Mol. Genet. (submitted)
Nicastro, G., Menon, R., Masino, L., McDonalds, N.O., Pastore, A. (2005) The solution structure of the Josephin domain of ataxin-3: Structural determinants for molecular recognition. PNAS 102, 10493-10498.
de Chiara, C., Menon, R.P., Dal Piaz, F., Calder, L., Pastore, A. Polyglutamine is not all: The functional role of the AXH domain in the ataxin-1 protein. Journal Molecular Biology 354, 883-893 (2005).
de Chiara, C., Menon, R.P., Adinolfi, S., de Boer, J., Ktistaki, E., Kelly, G., Calder, L., Kioussis, D. and Pastore, A. The AXH domain adopts alternative folds the solution structure of HBP1 AXH. Structure (Camb) 13, 743-753 (2005).
A.Matilla, R.Goold, P.Giunti. Molecular pathogenesis of spinocerebellar ataxias. Brain. 2006 Apr 13; [Epub ahead of print].
R.V.Costanzo, G.J.Vilá-Ortíz, C.Perandones, H.Carminatti, A.Matilla, M.Radrizzani. Anp32e/Cpd1 regulates protein phosphatase 2A activity at synapses during synaptogenesis. European Journal of Neuroscience, in press (2006).
LATOUCHE M., LASBLEIZ C., MARTIN E., MONNIER V., DEBEIR T., PRIGENT A., MURIEL MP., RUBERG M., BRICE A., STEVANIN G. AND H. TRICOIRE Identification of modifier genes in areversible inducible drosophila model of SCA7. J. Neurosc. (2007) 27: 2483-92