Search Results - "Doty, Crystal N"
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In Vivo Evaluation of Candidate Allele-specific Mutant Huntingtin Gene Silencing Antisense Oligonucleotides
Published in Molecular therapy (01-12-2014)“…Huntington disease (HD) is a dominant, genetic neurodegenerative disease characterized by progressive loss of voluntary motor control, psychiatric disturbance,…”
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Allele-specific suppression of mutant huntingtin using antisense oligonucleotides: providing a therapeutic option for all Huntington disease patients
Published in PloS one (10-09-2014)“…Huntington disease (HD) is an inherited, fatal neurodegenerative disorder caused by a CAG repeat expansion in the huntingtin gene. The mutant protein causes…”
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Cleavage at the Caspase-6 Site Is Required for Neuronal Dysfunction and Degeneration Due to Mutant Huntingtin
Published in Cell (16-06-2006)“…Cleavage of huntingtin (htt) has been characterized in vitro, and accumulation of caspase cleavage fragments represents an early pathological change in brains…”
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Bidirectional Control of Postsynaptic Density-95 (PSD-95) Clustering by Huntingtin
Published in The Journal of biological chemistry (07-02-2014)“…Huntington disease is associated with early alterations in corticostriatal synaptic function that precede cell death, and it is postulated that ameliorating…”
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Phosphorylation of huntingtin reduces the accumulation of its nuclear fragments
Published in Molecular and cellular neuroscience (01-02-2009)“…Huntingtin is phosphorylated on serine-421 (S421) by the pro-survival signaling protein kinases Akt and SGK. Phosphorylation of huntingtin at S421 is variable…”
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HTT haplotypes contribute to differences in Huntington disease prevalence between Europe and East Asia
Published in European journal of human genetics : EJHG (01-05-2011)Get full text
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HD iPSC-derived neural progenitors accumulate in culture and are susceptible to BDNF withdrawal due to glutamate toxicity
Published in Human molecular genetics (01-06-2015)“…Huntington's disease (HD) is a fatal neurodegenerative disease, caused by expansion of polyglutamine repeats in the Huntingtin gene, with longer expansions…”
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Rational design of antisense oligonucleotides targeting single nucleotide polymorphisms for potent and allele selective suppression of mutant Huntingtin in the CNS
Published in Nucleic acids research (01-11-2013)“…Autosomal dominant diseases such as Huntington's disease (HD) are caused by a gain of function mutant protein and/or RNA. An ideal treatment for these diseases…”
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Huntingtin Haplotypes Provide Prioritized Target Panels for Allele-specific Silencing in Huntington Disease Patients of European Ancestry
Published in Molecular therapy (01-11-2015)“…Huntington disease (HD) is a dominant neurodegenerative disorder caused by a CAG repeat expansion in the Huntingtin gene (HTT). Heterozygous polymorphisms in…”
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A SNP in the HTT promoter alters NF-κB binding and is a bidirectional genetic modifier of Huntington disease
Published in Nature neuroscience (01-06-2015)“…Huntington disease (HD) is an incurable neurodegenerative disease. A SNP in the huntingtin promoter impaired NF-κB binding and acted as a bidirectional…”
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HTT haplotypes contribute to differences in Huntington disease prevalence between Europe and East Asia
Published in European journal of human genetics : EJHG (01-05-2011)“…Huntington disease (HD) results from CAG expansion in the huntingtin (HTT) gene. Although HD occurs worldwide, there are large geographic differences in its…”
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A fully humanized transgenic mouse model of Huntington disease
Published in Human molecular genetics (01-01-2013)“…Silencing the mutant huntingtin gene (muHTT) is a direct and simple therapeutic strategy for the treatment of Huntington disease (HD) in principle. However,…”
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High frequency of intermediate alleles on huntington disease-associated haplotypes in British Columbia's general population
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01-12-2013)“…ABSTRACT Intermediate alleles (27–35 CAG, IAs) for Huntington disease (HD) usually do not confer the disease phenotype but are prone to CAG repeat instability…”
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Hip14l-deficient mice develop neuropathological and behavioural features of Huntington disease
Published in Human molecular genetics (01-02-2013)“…Palmitoylation, the dynamic post-translational addition of the lipid, palmitate, to proteins by Asp-His-His-Cys-containing palmitoyl acyltransferase (PAT)…”
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Huntington disease in the South African population occurs on diverse and ethnically distinct genetic haplotypes
Published in European journal of human genetics : EJHG (01-10-2013)“…Huntington disease (HD) is a neurodegenerative disorder resulting from the expansion of a CAG trinucleotide repeat in the huntingtin (HTT) gene. Worldwide…”
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Activated caspase-6 and caspase-6-cleaved fragments of huntingtin specifically colocalize in the nucleus
Published in Human molecular genetics (01-08-2008)“…Proteolysis of mutant huntingtin is crucial to the development of Huntington disease (HD). Specifically preventing proteolysis at the capase-6 (C6) consensus…”
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Reliable Resolution of Full-Length Huntingtin Alleles by Quantitative Immunoblotting
Published in Journal of Huntington's disease (01-01-2021)“…Therapeutics that lower mutant huntingtin (mHTT) have shown promise in preclinical studies and are in clinical development for the treatment of Huntington…”
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Potent and Selective Antisense Oligonucleotides Targeting Single-Nucleotide Polymorphisms in the Huntington Disease Gene / Allele-Specific Silencing of Mutant Huntingtin
Published in Molecular therapy (01-12-2011)“…Huntington disease (HD) is an autosomal dominant neurodegenerative disorder caused by CAG-expansion in the huntingtin gene (HTT) that results in a toxic gain…”
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A novel humanized mouse model of Huntington disease for preclinical development of therapeutics targeting mutant huntingtin alleles
Published in Human molecular genetics (15-03-2017)“…Huntington disease (HD) is a neurodegenerative disease caused by a mutation in the huntingtin (HTT) gene. HTT is a large protein, interacts with many partners…”
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