Results 141 to 150 of about 39,855 (249)

Dissecting the roles of EIF4G homologs reveals DAP5 as a modifier of CGG repeat-associated toxicity in a Drosophila model of FXTAS

Neurobiology of Disease, 2023
Neurodegeneration in Fragile X-associated tremor/ataxia syndrome (FXTAS) is caused by a CGG trinucleotide repeat expansion in the 5′ UTR of FMR1. Expanded CGG repeat RNAs form stable secondary structures, which in turn support repeat-associated non-AUG ...
Indranil Malik, Yi-Ju Tseng, Clare M. Wieland, Katelyn M. Green, Kristina Zheng, Katyanne Calleja, Peter K. Todd   +6 more
doaj  

The Friedreich's ataxia mutation may originate from a premutation and shows size reduction when transmitted from parent to affected child [PDF]

, 1997
Most trinucleotide repeat mutations cause dominant or X linked neurological disorders and show progressive increase in size from affected parent to affected child, the basis of phenotypic anticipation.
,, Delatycki, M., Forrest, S.M., Forshaw, K., Gardner, R.J.M., Nassis, N., Nicholson, G., Paris, D., Williamson, R.   +8 more
core  

Generation of Spinocerebellar Ataxia Type 2 induced pluripotent stem cell lines, CHOPi002-A and CHOPi003-A, from patients with abnormal CAG repeats in the coding region of the ATXN2 gene

Stem Cell Research, 2019
Spinocerebellar Ataxia Type 2 (SCA2) is an autosomal dominant disease characterized by progressive degeneration of the cerebellum, brain stem, and spinal cord.
Jean Ann Maguire, Alyssa L. Gagne, Pedro Gonzalez-Alegre, Beverly L. Davidson, Vikram Shakkottai, Paul Gadue, Deborah L. French   +6 more
doaj  

A Case Report of Myotonic Dystrophy Type 1 Presenting as Acute Respiratory Failure

罕见病研究
Myotonic dystrophy type 1 (DM1) is a multisystem trinucleotide repeat expansion disorder usually referred to the department of neurology with complaints of progressive muscle weakness and myotonia.
WANG Yiqi, LIN Jie, XI Jianying, LUO Sushan, ZHENG Yanmei, ZHAO Chongbo   +5 more
doaj   +1 more source

Exonic trinucleotide repeat expansions in ZFHX3 cause spinocerebellar ataxia type 4: A poly-glycine disease [PDF]

, 2023
Joel Wallenius, Efthymia Kafantari, Emma Jhaveri, Sorina Gorcenco, Adam Ameur, Christin Karremo, Sigurd Dobloug, Kristina Karrman, Tom de Koning, Andreea Ilinca, Maria Landqvist Waldö, Andreas Arvidsson, Staffan Persson, Elisabet Englund, Hans Ehrencrona, Andreas Puschmann   +15 more
openalex   +1 more source

A pedigree of spinocerebellar ataxia type 2

Chinese Journal of Contemporary Neurology and Neurosurgery, 2019
DOI: 10.3969/j.issn.1672-6731.2019.03 ...
Yan-xin LI, Li SONG, Zhan-yun LÜ, Quan-quan WANG, Yan-lei HAO   +4 more
doaj  

Trinucleotide (GAA)n repeat expansion in two families with Friedreich's ataxia with retained reflexes [PDF]

, 1997
Mark Kellett, Nicholas Fletcher, Nicholas Wood, T P Enevoldson   +3 more
openalex   +1 more source

Recombination-induced CAG trinucleotide repeat expansions in yeast involve the MRE11–RAD50–XRS2 complex [PDF]

, 2000
Guy‐Franck Richard, Geoffrey M. Goellner, Cynthia T. McMurray, James E. Haber   +3 more
openalex   +1 more source

An Unstable Trinucleotide-Repeat Region on Chromosome 13 Implicated in Spinocerebellar Ataxia: A Common Expansion Locus [PDF]

, 2000
John B. Vincent, Maria Neves-Pereira, Andrew D. Paterson, Etsuko Yamamoto, Sagar V. Parikh, Fabìo Macciardi, Hugh Gurling, Steven G. Potkin, Carlos N. Pato, A. Macedo, Mária Kovács, Marilyn A. Davies, Jeffrey A. Lieberman, Herbert Y. Meltzer, Artūras Petronis, James L. Kennedy   +15 more
openalex   +1 more source

CRISPR-Cas9-Mediated Genome Editing Increases Lifespan and Improves Motor Deficits in a Huntington’s Disease Mouse Model

Molecular Therapy: Nucleic Acids, 2019
Huntington’s disease (HD) is a currently incurable and, ultimately, fatal neurodegenerative disorder caused by a CAG trinucleotide repeat expansion within exon 1 of the huntingtin (HTT) gene, which results in the production of a mutant protein that forms
Freja K. Ekman, David S. Ojala, Maroof M. Adil, Paola A. Lopez, David V. Schaffer, Thomas Gaj   +5 more
doaj