Rapid and high-purity differentiation of human medium spiny neurons reveals LMNB1 hypofunction and subtype necessity in modeling Huntington’s disease by Junjiao Wu, Jie Ren, Hongfei Cui, Yali Xie, Yu Tang

“…Huntington’s disease (HD) is an inherited neurodegenerative disease characterized by motor abnormalities that primarily affect the striatum. The Huntingtin (HTT) mutation involves an expanded CAG repeat, leading to insoluble polyQ, which renders GABA+ medium spiny neurons (MSN) more venerable to cell death. …”
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Control of Huntington’s Disease-Associated Phenotypes by the Striatum-Enriched Transcription Factor Foxp2 by Carmona, Vitor, Heilbut, Adrian, Sittler, Annie, Pereira de Almeida, Luís, Mesirov, Jill P., Gao, Fan, Kolaczyk, Eric D., Hachigian, Lea, Fenster, Robert, Kulicke, Ruth, Heiman, Myriam

“…We note that Foxp2 encodes the longest polyglutamine repeat protein in the human reference genome, and we show that it can be sequestered into aggregates with polyglutamine-expanded mutant Huntingtin protein (mHTT). Foxp2 overexpression in HD model mice leads to altered expression of several genes associated with synaptic function, genes that present additional targets for normalization of corticostriatal dysfunction in HD. …”
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Understanding neurodegenerative disease-relevant molecular effects of perturbagens using a multi-omics approach by Patel-Murray, Natasha L.(Natasha Leanna)

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Early epigenomic and transcriptional changes reveal Elk-1 transcription factor as a therapeutic target in Huntington’s disease by Yildirim, Ferah, Ng, Christopher, Kappes, Vincent, Ehrenberger, Tobias, Rigby, Siobhan K., Stivanello, Victoria, Gipson, Theresa A., Soltis, Anthony R., Vanhoutte, Peter, Caboche, Jocelyne, Housman, David E., Fraenkel, Ernest

“…Huntington’s disease (HD) is a chronic neurodegenerative disorder characterized by a late clinical onset despite ubiquitous expression of the mutant Huntingtin gene (HTT) from birth. Transcriptional dysregulation is a pivotal feature of HD. …”
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Molecular Profiling and Mechanisms of Cerebrovascular Function in Health and Neurodegeneration by Garcia, Francisco J.

“…We demonstrate that a single dose of gene therapy targeting the cerebrovasculature to lower levels of huntingtin via a microRNA-mediated mechanism is sufficient to delay the progression of Huntington’s disease in vivo. …”
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Loss of Hsp70 Exacerbates Pathogenesis But Not Levels of Fibrillar Aggregates in a Mouse Model of Huntington's Disease by Lindquist, Susan, Steele, Andrew D., Wacker, Jennifer L., Huang, Shao-Yi, Aron, Rebecca, Lotz, Gregor P., Nguyen, QuangVu, Giorgini, Flaviano, Roberson, Erik D., Masliah, Eliezer, Muchowski, Paul J.

“…Huntington's disease (HD) is a fatal neurodegenerative disorder caused by an expansion of a polyglutamine (polyQ) tract in the protein huntingtin (htt), which leads to its aggregation and accumulation in inclusion bodies. …”
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The study of Drosophila melanogaster blue cheese (bchs) function in the involvement of autophagy in neurodegenerative disorders by Sim, Joan Poh Ling

“…Colocalization analysis and live imaging on primary neurons show that Bchs dissociates from Rabll and associates with AtgS during Huntingtin Q93 expression. However, there is no effect on the association of Bchs with Atg8 or Spinster, a late endolysosomal marker, in response to the induction of aggrephagy. …”
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Nucleic acid structures as transcriptional and epigenetic regulators in health and disease by da Silva Cravo, L

“…</p> <p>Huntington’s disease (HD) is the most common monogenic neurological disorder caused by the expanded and unstable CAG trinucleotide repeat in the first exon of the huntingtin gene (HTT). The pathology of HD has been traditionally associated with the mutant HTT protein, which confers toxic gain of function leading to dysfunction and death of neurons. …”

Towards extracellular vesicle based gene therapy for Huntington's disease by O'Loughlin, A

“…The mutation codes for an expanded polyglutamine tract within the Huntingtin gene (<em>HTT</em>) which leads to neuronal loss through a pathological cascade of events. …”

Reciprocal expression of the endocytic protein HIP1R and its repressor FOXP1 predicts outcome in R-CHOP-treated diffuse large B-cell lymphoma patients. by Wong, K, Gascoyne, D, Brown, P, Soilleux, E, Snell, C, Chen, H, Lyne, L, Lawrie, C, Gascoyne, R, Pedersen, L, Møller, M, Pulford, K, Murphy, D, Green, T, Banham, A

“…We previously identified autoantibodies to the endocytic-associated protein Huntingtin-interacting protein 1-related (HIP1R) in diffuse large B-cell lymphoma (DLBCL) patients. …”

The ATG5 interactome links clathrin-mediated vesicular trafficking with the autophagosome assembly machinery by Kiren Baines, Kazuaki Yoshioka, Yoh Takuwa, Jon D. Lane

“…Abbreviations: ATG, autophagy related; BafA1, bafilomycin A1; GFP, green fluorescent protein; HIP1R, huntingtin interacting protein 1 related; MEF, mouse embryo fibroblast; PIK3C2A, phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha; SILAC, stable isotope labelling with amino acids in culture; SQSTM1, sequestosome 1; STRING, search tool for the retrieval of interacting genes/proteins…”
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DNA Methyltransferase 1 (DNMT1) Acts on Neurodegeneration by Modulating Proteostasis-Relevant Intracellular Processes by Cathrin Bayer, Georg Pitschelatow, Nina Hannemann, Jenice Linde, Julia Reichard, Daniel Pensold, Geraldine Zimmer-Bensch

“…In line with this, we found that the transport of GFP-labeled mutant huntingtin (HTT) to perinuclear regions, proposed to be cytoprotective, also depends on DNMT1. …”
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SETD2 transcriptional control of ATG14L/S isoforms regulates autophagosome–lysosome fusion by Patricia González-Rodríguez, Elizabeth Delorme-Axford, Amélie Bernard, Lily Keane, Vassilis Stratoulias, Kathleen Grabert, Pinelopi Engskog-Vlachos, Jens Füllgrabe, Daniel J. Klionsky, Bertrand Joseph

“…Accordingly, SETD2 loss of function decreases autophagic flux, as well as the turnover of aggregation-prone proteins such as mutant HTT (huntingtin) leading to increased cellular toxicity. …”
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Defective mitochondria‐lysosomal axis enhances the release of extracellular vesicles containing mitochondrial DNA and proteins in Huntington's disease by Margarida Beatriz, Rita Vilaça, Sandra I. Anjo, Bruno Manadas, Cristina Januário, A. Cristina Rego, Carla Lopes

“…Huntington's disease (HD) is a progressive neurodegenerative disorder associated with mutant Huntingtin‐induced abnormalities in neuronal mitochondrial dynamics and quality control. …”
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Pharmacogenetics in the Treatment of Huntington’s Disease: Review and Future Perspectives by Xandra García-González, Esther Cubo, Lucía Simón-Vicente, Natividad Mariscal, Raquel Alcaraz, Laura Aguado, Jéssica Rivadeneyra-Posadas, Antonio Sanz-Solas, Miriam Saiz-Rodríguez

“…Huntington’s disease (HD) is an autosomal dominant progressive brain disorder, caused by a pathological expansion of a CAG repeat that encodes the huntingtin gene. This genetic neurodegenerative rare disease is characterized by cognitive, motor, and neuropsychiatric manifestations. …”
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Functional Intercellular Transmission of miHTT via Extracellular Vesicles: An In Vitro Proof-of-Mechanism Study by Roberto D. V. S. Morais, Marina Sogorb-González, Citlali Bar, Nikki C. Timmer, M. Leontien Van der Bent, Morgane Wartel, Astrid Vallès

“…Huntington’s disease (HD) is a fatal neurodegenerative disorder caused by GAG expansion in exon 1 of the huntingtin (<i>HTT</i>) gene. AAV5-miHTT is an adeno-associated virus serotype 5-based vector expressing an engineered HTT-targeting microRNA (miHTT). …”
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Longitudinal investigation of changes in resting-state co-activation patterns and their predictive ability in the zQ175 DN mouse model of Huntington’s disease by Mohit H. Adhikari, Tamara Vasilkovska, Roger Cachope, Haiying Tang, Longbin Liu, Georgios A. Keliris, Ignacio Munoz-Sanjuan, Dorian Pustina, Annemie Van der Linden, Marleen Verhoye

“…Abstract Huntington’s disease (HD) is a neurodegenerative disorder caused by expanded (≥ 40) glutamine-encoding CAG repeats in the huntingtin gene, which leads to dysfunction and death of predominantly striatal and cortical neurons. …”
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The contribution of preclinical magnetic resonance imaging and spectroscopy to Huntington’s disease by Jean-Baptiste Pérot, Jean-Baptiste Pérot, Emmanuel Brouillet, Julien Flament

“…Mouse models can be divided into three different constructions: transgenic mice expressing exon-1 of human huntingtin (HTT), mice with an artificial chromosome expressing full-length human HTT, and knock-in mouse models with CAG expansion inserted in the murine htt gene. …”
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Investigating Holistic Natural Strategies for The Management of Huntington's Disease by Silakari Pragati, Yadav Aditi, Arora Aneesha, Arora Anushka, Gulsheen, Kaur Paranjeet, Kumar Sahu Sanjeev

“…An autosomal dominant neurodegenerative ailment called Huntington's disease is brought on by increase in number of CAG (Cytosine-Adenine-Guanine) repeats, which causes the creation of a mutant Huntingtin protein (mHTT) resulting in neuronal death and mental disabilities in human beings. …”
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Comprehensive behavioral and molecular characterization of a new knock-in mouse model of Huntington's disease: zQ175. by Liliana B Menalled, Andrea E Kudwa, Sam Miller, Jon Fitzpatrick, Judy Watson-Johnson, Nicole Keating, Melinda Ruiz, Richard Mushlin, William Alosio, Kristi McConnell, David Connor, Carol Murphy, Steve Oakeshott, Mei Kwan, Jose Beltran, Afshin Ghavami, Dani Brunner, Larry C Park, Sylvie Ramboz, David Howland

“…Since the mutation responsible for the disease was identified as an unstable expansion of CAG repeats in the gene encoding the huntingtin protein in 1993, numerous mouse models of HD have been generated to study disease pathogenesis and evaluate potential therapeutic approaches. …”
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