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The HTT1a protein initiates HTT aggregation in a knock-in mouse model of Huntington's disease.
Papadopoulou AS, Landles C, Smith EJ, Bondulich MK, Boeddrich A, Canibano-Pico M, Danby ECE, Hoschek F, Iqbal A, Jones ST, Neuendorf N, Nita IM, Osborne GF, Phillips J, Wagner M, Wanker EE, Greene JR, Neueder A, Bates GP. Papadopoulou AS, et al. Among authors: neueder a. Brain. 2026 Feb 2:awag040. doi: 10.1093/brain/awag040. Online ahead of print. Brain. 2026. PMID: 41622913
The mutation that causes Huntington's disease is a CAG repeat expansion in exon 1 of the huntingtin gene (HTT) that leads to an abnormally long polyglutamine tract in the huntingtin protein (HTT). ...However, very low levels of the HTT1a protein were d …
The mutation that causes Huntington's disease is a CAG repeat expansion in exon 1 of the huntingtin gene (HTT) that lea …
Huntingtin HTT1a is generated in a CAG repeat-length-dependent manner in human tissues.
Hoschek F, Natan J, Wagner M, Sathasivam K, Abdelmoez A, von Einem B, Bates GP, Landwehrmeyer GB, Neueder A. Hoschek F, et al. Among authors: neueder a. Mol Med. 2024 Mar 8;30(1):36. doi: 10.1186/s10020-024-00801-2. Mol Med. 2024. PMID: 38459427 Free PMC article.
BACKGROUND: The disease-causing mutation in Huntington disease (HD) is a CAG trinucleotide expansion in the huntingtin (HTT) gene. The mutated CAG tract results in the production of a small RNA, HTT1a, coding for only exon 1 of HTT. HTT1a is generated …
BACKGROUND: The disease-causing mutation in Huntington disease (HD) is a CAG trinucleotide expansion in the huntingtin (HTT) gene. Th …
Silencing Srsf6 does not modulate incomplete splicing of the huntingtin gene in Huntington's disease models.
Mason MA, Gomez-Paredes C, Sathasivam K, Neueder A, Papadopoulou AS, Bates GP. Mason MA, et al. Among authors: neueder a. Sci Rep. 2020 Aug 20;10(1):14057. doi: 10.1038/s41598-020-71111-w. Sci Rep. 2020. PMID: 32820193 Free PMC article.
We have previously shown that the incomplete splicing of exon 1 to exon 2 of the HTT gene results in the production of a small polyadenylated transcript (Httexon1) that encodes the highly pathogenic exon 1 HTT protein. ...We conclu …
We have previously shown that the incomplete splicing of exon 1 to exon 2 of the HTT gene results in the product …
Phenotype onset in Huntington's disease knock-in mice is correlated with the incomplete splicing of the mutant huntingtin gene.
Franich NR, Hickey MA, Zhu C, Osborne GF, Ali N, Chu T, Bove NH, Lemesre V, Lerner RP, Zeitlin SO, Howland D, Neueder A, Landles C, Bates GP, Chesselet MF. Franich NR, et al. Among authors: neueder a. J Neurosci Res. 2019 Dec;97(12):1590-1605. doi: 10.1002/jnr.24493. Epub 2019 Jul 7. J Neurosci Res. 2019. PMID: 31282030 Free PMC article.
Huntington's disease (HD) is a progressive neurodegenerative disorder caused by an expanded CAG repeat within the huntingtin (HTT) gene. The Q140 and HdhQ150 knock-in HD mouse models were generated such that HdhQ150 mice have an expanded CAG repeat inserted into the mouse …
Huntington's disease (HD) is a progressive neurodegenerative disorder caused by an expanded CAG repeat within the huntingtin (HTT) ge …
Regulatory mechanisms of incomplete huntingtin mRNA splicing.
Neueder A, Dumas AA, Benjamin AC, Bates GP. Neueder A, et al. Nat Commun. 2018 Sep 27;9(1):3955. doi: 10.1038/s41467-018-06281-3. Nat Commun. 2018. PMID: 30262848 Free PMC article.
Huntington's disease is caused by a CAG repeat expansion in exon 1 of the HTT gene. We have previously shown that exon 1 HTT does not always splice to exon 2 producing a small transcript (HTTexon1) that encodes the highly pathogeni …
Huntington's disease is caused by a CAG repeat expansion in exon 1 of the HTT gene. We have previously shown that ex
The pathogenic exon 1 HTT protein is produced by incomplete splicing in Huntington's disease patients.
Neueder A, Landles C, Ghosh R, Howland D, Myers RH, Faull RLM, Tabrizi SJ, Bates GP. Neueder A, et al. Sci Rep. 2017 May 2;7(1):1307. doi: 10.1038/s41598-017-01510-z. Sci Rep. 2017. PMID: 28465506 Free PMC article.
We have previously shown that exon 1 of the huntingtin gene does not always splice to exon 2 resulting in the production of a small polyadenylated mRNA (HTTexon1) that encodes the highly pathogenic exon 1 HTT protein. ...This finding will …
We have previously shown that exon 1 of the huntingtin gene does not always splice to exon 2 resulting in the productio …
Aberrantly spliced HTT, a new player in Huntington's disease pathogenesis.
Gipson TA, Neueder A, Wexler NS, Bates GP, Housman D. Gipson TA, et al. Among authors: neueder a. RNA Biol. 2013 Nov;10(11):1647-52. doi: 10.4161/rna.26706. Epub 2013 Oct 11. RNA Biol. 2013. PMID: 24256709 Free PMC article.
The exon 1 protein fragment is highly pathogenic. Transgenic mouse models containing just human huntingtin exon 1 develop a rapid onset of HD-like symptoms. Our finding that a small, mis-spliced HTT transcript and corresponding exon 1
The exon 1 protein fragment is highly pathogenic. Transgenic mouse models containing just human huntingtin exon 1
Aberrant splicing of HTT generates the pathogenic exon 1 protein in Huntington disease.
Sathasivam K, Neueder A, Gipson TA, Landles C, Benjamin AC, Bondulich MK, Smith DL, Faull RL, Roos RA, Howland D, Detloff PJ, Housman DE, Bates GP. Sathasivam K, et al. Among authors: neueder a. Proc Natl Acad Sci U S A. 2013 Feb 5;110(6):2366-70. doi: 10.1073/pnas.1221891110. Epub 2013 Jan 22. Proc Natl Acad Sci U S A. 2013. PMID: 23341618 Free PMC article.
It is caused by a CAG repeat expansion in exon 1 of the HTT gene that translates to a polyglutamine tract in the huntingtin protein (HTT). ...Here we show that CAG repeat length-dependent aberrant splicing of exon 1 HTT results in …
It is caused by a CAG repeat expansion in exon 1 of the HTT gene that translates to a polyglutamine tract in the huntin …