Machine learning in Huntington’s disease: exploring the Enroll-HD dataset for prognosis and driving capability prediction by Jasper Ouwerkerk, Stephanie Feleus, Kasper F. van der Zwaan, Yunlei Li, Marco Roos, Willeke M. C. van Roon-Mom, Susanne T. de Bot, Katherine J. Wolstencroft, Eleni Mina

“…Huntington’s disease (HD) is a rare neurodegenerative disorder caused by a CAG repeat expansion in the coding region of the huntingtin gene. The world’s largest observational study for HD, Enroll-HD, describes over 21,000 participants. …”
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Rodent Models of Huntington’s Disease: An Overview by Giulio Nittari, Proshanta Roy, Ilenia Martinelli, Vincenzo Bellitto, Daniele Tomassoni, Enea Traini, Seyed Khosrow Tayebati, Francesco Amenta

“…This neurodegenerative disorder is caused by a polyglutamine repeat expansion mutation in the widely expressed huntingtin (HTT) protein. HD is characterized by the degeneration of basal ganglia neurons and progressive cell death in intrinsic neurons of the striatum, accompanied by dementia and involuntary abnormal choreiform movements. …”
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Coaggregation of polyglutamine (polyQ) proteins is mediated by polyQ-tract interactions and impairs cellular proteostasis by Hong Jun-Ye, Wang Jian-Yang, Yue Hong-Wei, Zhang Xiang-Le, Zhang Shu-Xian, Jiang Lei-Lei, Hu Hong-Yu

“…In this study, 4 polyQ-containing proteins, androgen receptor (AR), ataxin-7 (Atx7), huntingtin (Htt) and ataxin-3 (Atx3), are used as model molecules to investigate their heterologous coaggregation and consequent impact on cellular proteostasis. …”
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The identification of chemical compounds that decrease cellular levels of toxic Huntington's disease protein through a novel cell-based assay by Coufal, Myra Alfert

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Characterizing differences in retinal and choroidal microvasculature and structure in individuals with Huntington's Disease compared to healthy controls: a cross-sectional prospect... by Joseph, Suzanna, Robbins, Cason B., Haystead, Alice, Hemesath, Angela, Allen, Ariana, Kundu, Anita, Ma, Justin P., Scott, Burton L., Moore, Kathryn P. L., Agrawal, Rupesh, Gunasan, Vithiya, Stinnett, Sandra S., Grewal, Dilraj S., Fekrat, Sharon

“…Objective: To characterize retinal and choroidal microvascular and structural changes in patients who are gene positive for mutant huntingtin protein (mHtt) with symptoms of Huntington's Disease (HD). …”
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Metformin reverses early cortical network dysfunction and behavior changes in Huntington’s disease by Isabelle Arnoux, Michael Willam, Nadine Griesche, Jennifer Krummeich, Hirofumi Watari, Nina Offermann, Stephanie Weber, Partha Narayan Dey, Changwei Chen, Olivia Monteiro, Sven Buettner, Katharina Meyer, Daniele Bano, Konstantin Radyushkin, Rosamund Langston, Jeremy J Lambert, Erich Wanker, Axel Methner, Sybille Krauss, Susann Schweiger, Albrecht Stroh

“…We furthermore show that the antidiabetic drug metformin diminishes aberrant Huntingtin protein load and fully restores both early network activity patterns and behavioral aberrations. …”
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Antisense oligonucleotide-mediated disruption of HTT caspase-6 cleavage site ameliorates the phenotype of YAC128 Huntington disease mice by Elsa C. Kuijper, Maurice Overzier, Ernst Suidgeest, Oleh Dzyubachyk, Cécile Maguin, Jean-Baptiste Pérot, Julien Flament, Yavuz Ariyurek, Hailiang Mei, Ronald A.M. Buijsen, Louise van der Weerd, Willeke van Roon-Mom

“…In Huntington disease, cellular toxicity is particularly caused by toxic protein fragments generated from the mutant huntingtin (HTT) protein. By modifying the HTT protein, we aim to reduce proteolytic cleavage and ameliorate the consequences of mutant HTT without lowering total HTT levels. …”
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Neuron type‐specific increase in lamin B1 contributes to nuclear dysfunction in Huntington’s disease by Rafael Alcalá‐Vida, Marta Garcia‐Forn, Carla Castany‐Pladevall, Jordi Creus‐Muncunill, Yoko Ito, Enrique Blanco, Arantxa Golbano, Kilian Crespí‐Vázquez, Aled Parry, Guy Slater, Shamith Samarajiwa, Sandra Peiró, Luciano Di Croce, Masashi Narita, Esther Pérez‐Navarro

“…Supporting lamin B1 alterations as a causal role in mutant huntingtin‐mediated neurodegeneration, pharmacological normalization of lamin B1 levels in the hippocampus of the R6/1 mouse model of HD by betulinic acid administration restored nuclear homeostasis and prevented motor and cognitive dysfunction. …”
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Altered Expression of Matrix Metalloproteinases and Their Endogenous Inhibitors in a Human Isogenic Stem Cell Model of Huntington's Disease by Swati Naphade, Alexander Embusch, Kuruwitage Lakshika Madushani, Karen L. Ring, Karen L. Ring, Lisa M. Ellerby

“…HD is caused by a CAG repeat expansion encoding a stretch of polyglutamine residues in the N-terminus of mutant huntingtin (mHTT) protein. Proteolytic processing of mHTT yields toxic fragments, which cause neurotoxicity and massive neuronal cell death predominantly in the striatum and cortex. …”
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Deletion of equilibrative nucleoside transporter 2 disturbs energy metabolism and exacerbates disease progression in an experimental model of Huntington's disease by Ching-Ya Chen, Fang-Yi Chou, Ya-Gin Chang, Chin-Jui Ho, Kuo-Chen Wu, Chia-Lin Hsu, Yijuang Chern, Chun-Jung Lin

“…Yet, ENT2 deletion deteriorated motor function and increased the number of aggregated mutant huntingtin in the striatum of R6/2 mice. Notably, disturbed energy metabolism with decreased ATP level and increased AMP/ ATP ratio was observed in R6/2-Ent2−/− mice, compared with R6/2-Ent2+/+ mice, resulting in the activation of AMPK in the late disease stage. …”
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Integrated Bioinformatics Analysis of Shared Genes, miRNA, Biological Pathways and Their Potential Role as Therapeutic Targets in Huntington’s Disease Stages by Christiana C. Christodoulou, Eleni Zamba Papanicolaou

“…Huntington’s Disease (HD) is a progressive neurodegenerative disease caused by CAG repeat expansion in the huntingtin gene (HTT). The HTT gene was the first disease-associated gene mapped to a chromosome, but the pathophysiological mechanisms, genes, proteins or miRNAs involved in HD remain poorly understood. …”
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Striatal infusion of cholesterol promotes dose‐dependent behavioral benefits and exerts disease‐modifying effects in Huntington's disease mice by Giulia Birolini, Marta Valenza, Eleonora Di Paolo, Elena Vezzoli, Francesca Talpo, Claudia Maniezzi, Claudio Caccia, Valerio Leoni, Franco Taroni, Vittoria D Bocchi, Paola Conforti, Elisa Sogne, Lara Petricca, Cristina Cariulo, Margherita Verani, Andrea Caricasole, Andrea Falqui, Gerardo Biella, Elena Cattaneo

“…The treatment also enhanced endogenous cholesterol biosynthesis and clearance of mutant Huntingtin aggregates. These results indicate that cholesterol infusion to the striatum can exert a dose‐dependent, disease‐modifying effect and may be therapeutically relevant in HD.…”
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Y-box protein-1 modulates circSPECC1 to promote glioma tumorigenesis via miR-615-5p/HIP1/AKT axis by Lan Ping, Li Meihe, Wang Ying, Wang Jingwen, Li Luyao, Zhang Sha, Zhang Xuan, Ran Caihong, Zheng Jin, Gong Huilin

“…Bioinformatics analysis reveals that miR-615-5p could interact with circSPECC1 and huntingtin-interacting protein-1 (HIP-1). Then we determine the interactions between miR-615-5p, circSPECC1, and HIP1 using dual luciferase reporter system and pull-down assays. …”
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TYROBP/DAP12 knockout in Huntington’s disease Q175 mice cell-autonomously decreases microglial expression of disease-associated genes and non-cell-autonomously mitigates astroglios... by Jordi Creus-Muncunill, Jean Vianney Haure-Mirande, Daniele Mattei, Joanna Bons, Angie V. Ramirez, B. Wade Hamilton, Chuhyon Corwin, Sarah Chowdhury, Birgit Schilling, Lisa M. Ellerby, Michelle E. Ehrlich

“…Abstract Introduction Huntington’s disease (HD) is a fatal neurodegenerative disorder caused by an expansion of the CAG trinucleotide repeat in the Huntingtin gene (HTT). Immune activation is abundant in the striatum of HD patients. …”
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Transcriptomic patterns in early-secretory and mid-secretory endometrium in a natural menstrual cycle immediately before fertilization and embryo transfer by Sung Pil Choo, Inha Lee, Jae-Hoon Lee, Dowon Lee, Hyemin Park, Joo Hyun Park, SiHyun Cho, Young Sik Choi

“…In both groups, adrenoceptor alpha 2A, interleukin 1 receptor-associated kinase 2, a disintegrin and metalloproteinase with thrombospondin repeats 15 (ADAMTS15), serpin family E member 1, integrin subunit beta 3, transmembrane protein 252 (TMEM252), huntingtin associated protein 1, C2 calcium-dependent domain containing 4A, and integrin subunit alpha 2 were upregulated in the MSP, compared to the ESP. …”
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Alteration of Autophagy and Glial Activity in Nilotinib-Treated Huntington’s Disease Patients by Karen E. Anderson, Max Stevenson, Rency Varghese, Michaeline L. Hebron, Erin Koppel, Mara McCartin, Robin Kuprewicz, Sara Matar, Dalila Ferrante, Charbel Moussa

“…HD is a hereditary disease caused by mutations in the <i>Huntingtin’s</i> (HTT) gene and characterized by neurodegeneration and motor and behavioral symptoms that are associated with activation of dopamine receptors. …”
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Elevated SLC7A2 expression is associated with an abnormal neuroinflammatory response and nitrosative stress in Huntington’s disease by Ian D. Gaudet, Hongyuan Xu, Emily Gordon, Gianna A. Cannestro, Michael L. Lu, Jianning Wei

“…Abstract We previously identified solute carrier family 7 member 2 (SLC7A2) as one of the top upregulated genes when normal Huntingtin was deleted. SLC7A2 has a high affinity for l-arginine. …”
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Widespread dysregulation of mRNA splicing implicates RNA processing in the development and progression of Huntington's disease by Tano, Vincent, Utami, Kagistia Hana, Nur Amirah Binte Mohammad Yusof, Bégin, Jocelyn, Tan, Willy Wei Li, Pouladi, Mahmoud A., Langley, Sarah Raye

“…Background: In Huntington's disease (HD), a CAG repeat expansion mutation in the Huntingtin (HTT) gene drives a gain-of-function toxicity that disrupts mRNA processing. …”
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Histone deacetylase knockouts modify transcription, CAG instability and nuclear pathology in Huntington disease mice by Marina Kovalenko, Serkan Erdin, Marissa A Andrew, Jason St Claire, Melissa Shaughnessey, Leroy Hubert, João Luís Neto, Alexei Stortchevoi, Daniel M Fass, Ricardo Mouro Pinto, Stephen J Haggarty, John H Wilson, Michael E Talkowski, Vanessa C Wheeler

“…Both knockouts moderately attenuated CAG expansion, with Hdac2 knockout decreasing nuclear huntingtin pathology. Hdac2 knockout resulted in a substantial transcriptional response that included modification of transcriptional dysregulation elicited by the HttQ111 allele, likely via mechanisms unrelated to instability suppression. …”
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RTP801/REDD1 Is Involved in Neuroinflammation and Modulates Cognitive Dysfunction in Huntington’s Disease by Leticia Pérez-Sisqués, Júlia Solana-Balaguer, Genís Campoy-Campos, Núria Martín-Flores, Anna Sancho-Balsells, Marcel Vives-Isern, Ferran Soler-Palazón, Marta Garcia-Forn, Mercè Masana, Jordi Alberch, Esther Pérez-Navarro, Albert Giralt, Cristina Malagelada

“…In HD, RTP801 mediates mutant huntingtin (mhtt) toxicity in in vitro models and its levels are increased in human iPSCs, human postmortem putamen samples, and in striatal synaptosomes from mouse models of the disease. …”
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