Počet záznamov: 1
The S18Y polymorphism in the UCHL1 gene is a genetic modifier in Huntington's disease
Názov The S18Y polymorphism in the UCHL1 gene is a genetic modifier in Huntington's disease Autor Metzger S. Spoluautori Bauer P. Tomiuk J. Laccone F. Didonato S. Gellera C. Soliveri P. Lange H.W. Weirich-Schwaiger H. Wenning G.K. Melegh B. Havasi V. Baliko L. Wieczorek S. Arning L. Zaremba J. Sulek A. Hoffman-Zacharska D. Basak A.N. Ersoy N. Zidovska J. Kebrdlova V. Pandolfo M. Ribai P. Kádaši Ľudevít 1952- SAVMOFYZ - Ústav molekulárnej fyziológie a genetiky SAV ORCID Kvasnicova M. Weber B.H.F. Kreuz F. Dose M. Stuhrmann M. Riess O. Zdroj.dok. Neurogenetics. Vol. 7, iss. 1 (2006) p. 27-30 Jazyk dok. eng - angličtina Krajina US - Spojené štáty Druh dok. rozpis článkov z periodík (rbx) Ohlasy SWAMI, M. - HENDRICKS, A.E. - GILLIS, T. - MASSOOD, T. - MYSORE, J. - MYERS, R.H. - WHEELER, V.C. Somatic expansion of the Huntington's disease CAG repeat in the brain is associated with an earlier age of disease onset. In HUMAN MOLECULAR GENETICS. ISSN 0964-6906, AUG 15 2009, vol. 18, no. 16, p. 3039-3047. TELL-MARTI, Gemma - ANTON PUIG-BUTILLE, Joan - GIMENEZ-XAVIER, Pol - SEGU-ROIG, Ariadna - POTRONY, Miriam - BADENAS, Celia - ALVAREZ, Victoria - MILLAN, Jose M. - JOSE TRUJILLO-TIEBAS, Maria - RAMOS-ARROYO, Maria A. - MILA, Montserrat - PUIG, Susana. The p. R151C Polymorphism in MC1R Gene Modifies the Age of Onset in Spanish Huntington's Disease Patients. In MOLECULAR NEUROBIOLOGY. ISSN 0893-7648, 2017, vol. 54, no. 5, pp. 3906-3910. MALANKHANOVA, Tuyana B. - MALAKHOVA, Anastasia A. - MEDVEDEV, Sergey P. - ZAKIAN, Suren M. Modern Genome Editing Technologies in Huntington's Disease Research. In JOURNAL OF HUNTINGTONS DISEASE. ISSN 1879-6397, 2017, vol. 6, no. 1, pp. 19-31. DEGLON, Nicole. FROM HUNTINGTIN GENE TO HUNTINGTON'S DISEASEALTERING STRATEGIES. In DISEASE-MODIFYING TARGETS IN NEURODEGENERATIVE DISORDERS: PAVING THE WAY FOR DISEASE-MODIFYING THERAPIES, 2017, vol., no., pp. 251-276. VITAL, Marcelo - BIDEGAIN, Estela - RAGGIO, Victor - ESPERON, Patricia. Molecular characterization of genes modifying the age at onset in Huntington's disease in Uruguayan patients. In INTERNATIONAL JOURNAL OF NEUROSCIENCE. ISSN 0020-7454, 2016, vol. 126, no. 6, pp. 510-513. DANNY HSU, Shang Te. Folding dynamics and structural basis of the enzyme mechanism of ubiquitin C-terminal hydroylases. In Understanding Enzymes: Function, Design, Engineering and Analysis, 2016-05-17, pp. 167-202. CRUZ, Nelly M. - YUAN, Yang - LEEHY, Barrett D. - BAID, Rinku - KOMPELLA, Uday - DEANGELIS, Margaret M. - ESCHER, Pascal - HAIDER, Neena B. Modifier Genes as Therapeutics: The Nuclear Hormone Receptor Rev Erb Alpha (Nr1d1) Rescues Nr2e3 Associated Retinal Disease. In PLOS ONE. ISSN 1932-6203, 2014, vol. 9, no. 1, pp. GUSELLA, J.F. - MACDONALD, M.E. Huntington's disease: seeing the pathogenic process through a genetic lens. In Trends in Biochemical Sciences, 2006, vol.31, no.9, 533-540. COWIN, R.-M. - BUI, N. - GRAHAM, D. - GREEN, J.R. - YUVA-PAYLOR, L.A. - WEISS, A. - PAYLOR, R. Genetic background modulates behavioral impairments in R6/2 mice and suggests a role for dominant genetic modifiers in Huntington's disease pathogenesis. In Mammalian Genome, 2012, 23, 5-6, pp. 367-377. ZHANG, B.-R. - TIAN, J. - YAN, Y.-P. - YIN, X.-Z. - ZHAO, G.-H. - WU, Z.-Y. - GU, W.-H. - XIA, K. - TANG, B.-S. CCG polymorphisms in the huntingtin gene have no effect on the pathogenesis of patients with Huntington's disease in mainland Chinese families. In Journal of the Neurological Sciences, 2012, 312, 1-2, pp. 92-96. ARNING, L. - EPPLEN, J.T. Genetic modifiers of Huntingtons disease: Beyond CAG. In Future Neurology, 2012, 7, 1, pp. 93-109. KEARNEY, Jennifer A. Genetic modifiers of neurological disease. In CURRENT OPINION IN GENETICS & DEVELOPMENT, 2011, vol.21, no.3, 349. MCFARLAND, K.N. - CHA, J.-H.J. Molecular biology of Huntington's disease. In Handbook of Clinical Neurology, 2011, vol.100, 25-81. ZENG, W. - GILLIS, T. - HAKKY, M. - DJOUSSÉ, L. - MYERS, R.H. - MACDONALD, M.E. - GUSELLA, J.F. Genetic analysis of the GRIK2 modifier effect in Huntington's disease. In BMC Neuroscience, 2006, vol.7. ZUCCATO, Chiara - VALENZA, Marta - CATTANEO, Elena. Molecular Mechanisms and Potential Therapeutical Targets in Huntington's Disease. In PHYSIOLOGICAL REVIEWS, 2010, vol.90, no.3, 905-981. LEE, Ji-Hyun - LEE, Jong-Min - RAMOS, Eliana Marisa - GILLIS, Tammy - MYSORE, Jayalakshmi S. - KISHIKAWA, Shotaro - HADZI, Tiffany - HENDRICKS, Audrey E. - HAYDEN, Michael R. - MORRISON, Patrick J. - NANCE, Martha - ROSS, Christopher A. - MARGOLIS, Russell L. - SQUITIERI, Ferdinando - GELLERA, Cinzia - GOMEZ-TORTOSA, Estrella - AYUSO, Carmen - SUCHOWERSKY, Oksana - TRENT, Ronald J. - MCCUSKER, Elizabeth - NOVELLETTO, Andrea - FRONTALI, Marina - JONES, Randi - ASHIZAWA, Tetsuo - FRANK, Samuel - SAINT-HILAIRE, Marie-Helene - HERSCH, Steven M. - ROSAS, Herminia D. - LUCENTE, Diane - HARRISON, Madaline B. - ZANKO, Andrea - ABRAMSON, Ruth K. - MARDER, Karen - SEQUEIROS, Jorge - LANDWEHRMEYER, G. Bernhard - SHOULSON, Ira - MYERS, Richard H. - MACDONALD, Marcy E. - GUSELLA, James F. TAA repeat variation in the GRIK2 gene does not influence age at onset in Huntington's disease. In BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS. ISSN 0006-291X, 2012, vol. 424, no. 3, pp. 404. ZUCCATO, C. - CATTANEO, E. Role of brain-derived neurotrophic factor in Huntington's disease. In Progress in Neurobiology, 2007, vol.81, no.5-6, 294-330. GONG, B. - LEZNIK, E. The role of ubiquitin C-terminal hydrolase L1 in neurodegenerative disorders. In Drug News and Perspectives, 2007, vol.20, no.6, 365-370. TAHERZADEH-FARD, E. - SAFT, C. - ANDRICH, J. - WIECZOREK, S. - ARNING, L. PGC-1 alpha as modifier of onset age in Huntington disease. In MOLECULAR NEURODEGENERATION. ISSN 1750-1326, FEB 6 2009, vol. 4. WEYDT, P. - SOYAL, S.M. - GELLERA, C. - DIDONATO, S. - WEIDINGER, C. - OBERKOFLER, H. - LANDWEHRMEYER, G.B. - PATSCH, W. The gene coding for PGC-1 alpha modifies age at onset in Huntington's Disease. In MOLECULAR NEURODEGENERATION. ISSN 1750-1326, JAN 8 2009, vol. 4. ZUCCATO, C. - CATTANEO, E. Brain-derived neurotrophic factor in neurodegenerative diseases. In NATURE REVIEWS NEUROLOGY. ISSN 1759-4758, JUN 2009, vol. 5, no. 6, p. 311-322. CHEN, Zhao - SEQUEIROS, Jorge - TANG, Beisha - JIANG, Hong. Genetic modifiers of age-at-onset in polyglutamine diseases. In AGEING RESEARCH REVIEWS. ISSN 1568-1637, 2018, vol. 48, no., pp. 99-108. KUMAR, Sumeet - YADAV, Navneesh - PANDEY, Sanjay - THELMA, B. K. Advances in the discovery of genetic risk factors for complex forms of neurodegenerative disorders: contemporary approaches, success, challenges and prospects. In JOURNAL OF GENETICS. ISSN 0022-1333, 2018, vol. 97, no. 3, pp. 625-648. LIYANAGE, Dilusha Madushanka - ADIKARAM, Arosha. Accepting or rejecting the label: how gay employees cope with harassment at work. In GENDER IN MANAGEMENT. ISSN 1754-2413, 2019, vol. 34, no. 8, pp. 644-664. MO, Christina - RENOIR, Thibault - HANNAN, Anthony J. Stress and glucocorticoids as experience-dependent modulators of huntington’s disease. In Stress: Physiology, Biochemistry, and Pathology Handbook of Stress Series, Volume 3 (Book Chapter). ISBN 978-012813146-6, 978-012813147-3, 2019, pp. 243-278. Dostupné na: https://doi.org/10.1016/B978-0-12-813146-6.00020-5 KHAYER, N - MIRZAIE, M - MARASHI, S-A - JALESSI, M. Rps27a might act as a controller of microglia activation in triggering neurodegenerative diseases. In PLOS ONE. ISSN 1932 6203, 2020, vol. 15, no. 9, art. no. e0239219 LEE, Yan Hua - TSAI, Yu-Shuen - CHANG, Che-Chang - HO, Chun-Chen - SHIH, Hsiu-Ming - CHEN, Hui-Mei - LAI, Hsing-Lin - LEE, Chia-Wei - LEE, Yi-Chung - LIAO, Yi-Chu - YANG, Ueng-Cheng - CHENG, Tzu-Hao - CHERN, Yijuang - SOONG, Bing-Wen. A PIAS1 Protective Variant S510G Delays polyQ Disease Onset by Modifying Protein Homeostasis. In MOVEMENT DISORDERS, 2022, vol. 37, no. 4, pp. 767-777. ISSN 0885-3185. Dostupné na: https://doi.org/10.1002/mds.28896. MARTI-MARTINEZ, Silvia - VALOR, Luis M. A Glimpse of Molecular Biomarkers in Huntington's Disease. In INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2022, vol. 23, no. 10, pp. Dostupné na: https://doi.org/10.3390/ijms23105411. MORALES, Eileeng - HERRERA, Camila - MONTANO, Ledys - MARTINEZ, Karin - MEZA, Maria - DEL VILLAR, Natalia - MENDOZA, Xilene - RODRUGUEZ, Alexander. Current knowledge and future directions in Huntington’s disease. In ARCHIVOS DE NEUROCIENCIAS. ISSN 1028-5938, 2022, vol. 27, no. 4, pp. 31-43. Dostupné na: https://doi.org/10.31157/an.v27i4.346 Kategória ADMA - Vedecké práce v zahraničných impaktovaných časopisoch registrovaných vo WOS Core Collection alebo SCOPUS Kategória (od 2022) V3 - Vedecký výstup publikačnej činnosti z časopisu Typ výstupu článok Rok vykazovania 2006 Registrované v WOS Registrované v SCOPUS DOI 10.1007/s10048-005-0023-z 
článok
rok CC IF IF Q (best) JCR Av Jour IF Perc SJR SJR Q (best) CiteScore N rok vydania rok metriky IF IF Q (best) SJR SJR Q (best) 2006 2005 2.938 Q1 1.734 Q1
Počet záznamov: 1