Zobrazeno 1 - 10
of 39
pro vyhledávání: '"Spinocerebellar ataxia 1"'
Autor:
K. Varani, A.-C. Bachoud-Lévi, C. Mariotti, A. Tarditi, M.P. Abbracchio, V. Gasperi, P.A. Borea, G. Dolbeau, C. Gellera, A. Solari, A. Rosser, J. Naji, O. Handley, M. Maccarrone, Marc Peschanski, S. DiDonato, E. Cattaneo
Publikováno v:
Neurobiology of Disease, Vol 27, Iss 1, Pp 36-43 (2007)
Huntington’s disease is one of a group of hereditary neurodegenerative diseases characterized by a glutamine expansion (polyQ) in proteins which are expressed in various cell populations. In agreement with this widespread distribution, we have prev
Externí odkaz:
https://doaj.org/article/552a77583542424a989329b9b552ca60
Autor:
Jack A. Tuszynski, Marco Agostino Deriu, Diana Nada Caterina Massai, Gianvito Grasso, Umberto Morbiducci, Andrea Danani
Publikováno v:
Biophysical Journal. 114:323-330
The AXH domain of protein Ataxin 1 is thought to play a key role in the misfolding and aggregation pathway responsible for Spinocerebellar ataxia 1. For this reason, a molecular level understanding of AXH oligomerization pathway is crucial to elucida
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::36c26064451f8d438759e1040011aceb
https://doi.org/10.1016/j.bpj.2017.11.025
https://doi.org/10.1016/j.bpj.2017.11.025
Publikováno v:
Annals of Movement Disorders, Vol 3, Iss 3, Pp 185-187 (2020)
A variety of manifestations are known to occur in spinocerebellar ataxias (SCAs) other than ataxia. Dystonia may be the presenting or dominant manifestation of certain types of SCAs, commonly in SCA 3, SCA 17, and SCA 2. In this paper, we present a c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7122af22db516f86ca983e21e0e20a1f
https://doi.org/10.4103/aomd.aomd_29_20
https://doi.org/10.4103/aomd.aomd_29_20
Autor:
Maria P. Abbracchio, Caterina Mariotti, Elena Cattaneo, Marc Peschanski, Alessia Tarditi, A. Solari, Stefano DiDonato, Jenny J. Naji, G. Dolbeau, Anne Elizabeth Rosser, Mauro Maccarrone, Katia Varani, Anne-Catherine Bachoud-Lévi, Valeria Gasperi, Cinzia Gellera, Owain Handley, Pier Andrea Borea
Publikováno v:
Neurobiology of Disease, Vol 27, Iss 1, Pp 36-43 (2007)
Huntington's disease is one of a group of hereditary neurodegenerative diseases characterized by a glutamine expansion (polyQ) in proteins which are expressed in various cell populations. In agreement with this widespread distribution, we have previo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3e500a5b00d8377319f395a48ad2e04
https://doi.org/10.1016/j.nbd.2007.03.011
https://doi.org/10.1016/j.nbd.2007.03.011
Autor:
Gaiti Hasan, Mathew Alexander, Jayaprakash Muliyil, Reginald George Alex Tharmaraj, Dhanya Kumaran, Ajith Sivadasan, Kuryan George, Krishnan Balagopal, Sanjith Aaron, Sumita Danda
Publikováno v:
BMC Medical Genetics
Background Spinocerebellar ataxia type 1 (SCA1) is a late onset autosomal dominant cerebellar ataxia, caused by CAG triplet repeat expansion in the ATXN1 gene. The frequency of SCA1 occurrence is more in Southern India than in other regions as observ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6dca52983210af4a72f9ae35e998c798
https://doi.org/10.1186/s12881-014-0114-5
https://doi.org/10.1186/s12881-014-0114-5
Publikováno v:
Nature Neuroscience. 8:1422-1424
Why are some neurons selectively targeted for death in neurodegenerative diseases? A recent paper combines genetics in the fruit fly and mouse to uncover mechanisms underlying the vulnerability of Purkinje cells in spinocerebellar ataxia-1. © 2005 N
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05331ecdf9e39d4c255bf8415ffb2351
https://doi.org/10.1038/nn1105-1422
https://doi.org/10.1038/nn1105-1422
Autor:
A. Benomar, Olivier Didierjean, Alexis Brice, A. Sefiani, Yves Agid, M. Yahyaoui, F. Meggouh, T. Chkili, Alexandra Durr, N. Kissani
Publikováno v:
European Journal of Neurology. 3:369-372
We searched for CAG repeat expansions at the SCA1 and SCA3/MJD loci in nine families, including 15 examined patients, with autosomal dominant cerebellar ataxia type I from Morocco. Expansion of the CAG repeat was found in one family at the SCA1 and t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::26c9616ee494249ea3c462e3aed0831b
https://doi.org/10.1111/j.1468-1331.1996.tb00231.x
https://doi.org/10.1111/j.1468-1331.1996.tb00231.x
Autor:
Takeshi Hamada, Kunio Tashiro, Hidenao Sasaki, Toshiyuki Fukazawa, Takashi Yoshiki, Yoshihiro Suzuki, Akemi Wakisaka, Akio Takada, Kiyoshi Iwabuchi
Publikováno v:
Japanese journal of human genetics. 40:131-143
SCA1 is caused by expansion of an unstable CAG triplet repeat in a novel gene located on the short arm of chromosome 6. In 126 Japanese individuals from 12 pedigrees with SCA1, studies were done to determine if they carried this mutant gene. All the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5beecd691da71f9cbc24422d1d935e65
https://doi.org/10.1007/bf01874077
https://doi.org/10.1007/bf01874077
Autor:
Gaiti Hasan, Dhanya Kumaran
Publikováno v:
Current Science. 109:889
Spinocerebellar ataxia 1 (SCA1) is a late-onset neurodegenerative disease caused by CAG (coding for glutamine) repeat expansions or polyglutamine (polyQ) aggregates in the ATXN1 gene. Apart from the causative CAG repeat expansions in the ATXN1 locus,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00d78836a0176dd1a5674a5de023c4dd
https://doi.org/10.18520/v109/i5/889-892
https://doi.org/10.18520/v109/i5/889-892
Autor:
Sunali Desai, Sudha Balivada, Shehanaz Ellika, Peruvumba N. Jayakumar, Dheeraj Kalladka, Pramod Kumar Pal
Publikováno v:
Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia. 15(3)
The neural (blood oxygenation level dependent) correlates of motor coordination of both hands were studied in adult right-handed volunteers and patients with spinocerebellar ataxia 1 (SCA1), using functional magnetic resonance imaging (fMRI) of the e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d5a2f1ead55a1372d2907a1b42f91ca
https://pubmed.ncbi.nlm.nih.gov/18191573
https://pubmed.ncbi.nlm.nih.gov/18191573