J
Jorge Sequeiros
Researcher at University of Porto
Publications - 263
Citations - 9864
Jorge Sequeiros is an academic researcher from University of Porto. The author has contributed to research in topics: Machado–Joseph disease & Spinocerebellar ataxia. The author has an hindex of 50, co-authored 254 publications receiving 8987 citations. Previous affiliations of Jorge Sequeiros include Guy's Hospital & Institute of Business & Medical Careers.
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Journal ArticleDOI
Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2
Maria-Ceu Moreira,S Klur,Mitsunori Watanabe,Andrea H. Németh,I. Le Ber,J C Moniz,Christine Tranchant,Patrick Aubourg,Meriem Tazir,Ludger Schöls,Massimo Pandolfo,Jörg B. Schulz,Jean Pouget,Patrick Calvas,Masami Shizuka-Ikeda,Mikio Shoji,M Tanaka,Louise Izatt,Christopher Shaw,A. M’zahem,Eimear Dunne,Pascale Bomont,Traki Benhassine,Naima Bouslam,Giovanni Stevanin,Alexis Brice,João Tiago Guimarães,P. Mendonça,Clara Barbot,Paula Coutinho,Jorge Sequeiros,Alexandra Durr,J.-M. Warter,Michel Koenig +33 more
TL;DR: The causative mutations in AOA2 are identified in 15 families, which allows this entity to be clinically defined by onset between 10 and 22 years, cerebellar atrophy, axonal sensorimotor neuropathy, oculomotor apraxia and elevated alpha-fetoprotein.
Journal ArticleDOI
The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin
Maria-Ceu Moreira,Maria-Ceu Moreira,Clara Barbot,Nobutada Tachi,Naoki Kozuka,Eiji Uchida,Toby J. Gibson,P. Mendonça,Manuela Costa,José Barros,Takayuki Yanagisawa,Mitsunori Watanabe,Yoshio Ikeda,Masashi Aoki,Tetsuya Nagata,Paula Coutinho,Jorge Sequeiros,Michel Koenig +17 more
TL;DR: The results suggest that aprataxin is a nuclear protein with a role in DNA repair reminiscent of the function of the protein defective in ataxia-telangiectasia, but that would cause a phenotype restricted to neurological signs when mutant.
Journal ArticleDOI
A dominant-negative mutation in the TRESK potassium channel is linked to familial migraine with aura.
Ronald G. Lafrenière,M. Zameel Cader,M. Zameel Cader,Jean-François Poulin,Isabelle Andres-Enguix,Maryse Simoneau,Namrata Gupta,Karine Boisvert,François Lafrenière,Shannon McLaughlan,Marie-Pierre Dubé,Martin M Marcinkiewicz,Sreeram V. Ramagopalan,Olaf Ansorge,Bernard Brais,Jorge Sequeiros,José Pereira-Monteiro,Lyn R. Griffiths,Stephen J. Tucker,George C. Ebers,Guy A. Rouleau +20 more
TL;DR: A frameshift mutation, F139WfsX24, is reported, which segregates perfectly with typical migraine with aura in a large pedigree and demonstrates that it causes a complete loss of TRESK function and that the mutant subunit suppresses wild-type channel function through a dominant-negative effect, thus explaining the dominant penetrance of this allele.
Journal ArticleDOI
CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion
J-M Lee,Eliana Marisa Ramos,Junghee Lee,Tammy Gillis,Jayalakshmi S. Mysore,Michael R. Hayden,Simon C. Warby,Patrick J. Morrison,Martha Nance,Christopher A. Ross,Russell L. Margolis,Ferdinando Squitieri,S. Orobello,S. Di Donato,Estrella Gómez-Tortosa,Carmen Ayuso,Oksana Suchowersky,Ronald J. Trent,Elizabeth McCusker,Andrea Novelletto,Marina Frontali,Randi Jones,Tetsuo Ashizawa,Samuel Frank,Marie Saint-Hilaire,Steven M. Hersch,H. D. Rosas,Diane Lucente,Madeline Harrison,Andrea Zanko,Ruth K. Abramson,Karen Marder,Jorge Sequeiros,J.S. Paulsen,Georg Bernhard Landwehrmeyer,Richard H. Myers,Marcy E. MacDonald,James F. Gusella +37 more
TL;DR: Age at onset of diagnostic motor manifestations in Huntington disease (HD) is strongly correlated with an expanded CAG trinucleotide repeat, and the rate of HD pathogenesis leading to motor diagnosis is determined by a completely dominant action of the longest expanded allele and as yet unidentified genetic or environmental factors.
Journal Article
Correlation between CAG repeat length and clinical features in Machado-Joseph disease
Patrícia Maciel,Patrícia Maciel,Claudia Gaspar,Claudia Gaspar,Anita L. DeStefano,Isabel Silveira,Isabel Silveira,Paula Coutinho,João Radvany,David M. Dawson,David M. Dawson,Lewis Sudarsky,Lewis Sudarsky,João Guimarães,José Leal Loureiro,Marjan M. Nezarati,Lee I. Corwin,Iscia Lopes-Cendes,Karen Rooke,Roger N. Rosenberg,Patrick MacLeod,Lindsay A. Farrer,Jorge Sequeiros,Guy A. Rouleau +23 more
TL;DR: There is mild instability of the CAG tract length with transmission of the expanded alleles; both increase and decrease in size between parents and progeny occur, with larger variations in male than in female transmissions.