Developmental alterations in Huntington's disease neural cells and pharmacological rescue in cells and mice by HD iPSC Consortium, Lim, Ryan G, Salazar, Lisa L, Wilton, Daniel K, King, Alvin R, Stocksdale, Jennifer T, Sharifabad, Delaram, Lau, L Alice, Stevens, Beth, Reidling, Jack C, Winokur, Sara T, Casale, Malcolm S, Thompson, Leslie M, Pardo, Mónica, Díaz-Barriga, A Gerardo García, Straccia, Marco, Sanders, Phil, Alberch, Jordi, Canals, Josep M, Kaye, Julia A, Dunlap, Mariah, Jo, Lisa, May, Hanna, Mount, Elliot, Anderson-Bergman, Cliff, Haston, Kelly, Finkbeiner, Steven, Allen, Nicholas D, Kemp, Paul J, Atwal, Ranjit Singh, Biagioli, Marta, Gusella, James F, MacDonald, Marcy E, Akimov, Sergey S, Arbez, Nicolas, Stewart, Jacqueline, Ross, Christopher A, Mattis, Virginia B, Tom, Colton M, Mattis, Virginia B, Tom, Colton M, Ornelas, Loren, Sahabian, Anais, Lenaeus, Lindsay, Mandefro, Berhan, Sareen, Dhruv, Svendsen, Clive N, Kedaigle, Amanda Joy, Wasylenko, Theresa Anne, Yildirim, Ferah, Ng, Christopher W., Milani, Pamela, Housman, David E, Fraenkel, Ernest

“…These data suggest that mutant huntingtin impairs neurodevelopmental pathways that could disrupt synaptic homeostasis and increase vulnerability to the pathologic consequence of expanded polyglutamine repeats over time.…”
Get full text
Get full text
Get full text
Get full text
Get full text
Get full text
Get full text

Expression profile of HIP1R in B-cell subsets and in silico prediction of its functions in diffuse large B-cell lymphoma by Keng, Wong Kah

“…Huntingtin-interacting protein 1 (HIP1R) is an endocytic protein involved in endocytosis of surface receptors by regulating actin polymerization. …”
Get full text

Widespread dysregulation of mRNA splicing implicates RNA processing in the development and progression of Huntington's diseaseResearch in context by Vincent Tano, Kagistia Hana Utami, Nur Amirah Binte Mohammad Yusof, Jocelyn Bégin, Willy Wei Li Tan, Mahmoud A. Pouladi, Sarah R. Langley

“…Summary: 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. …”
Get full text

Extracellular Vesicle Delivery of Neferine for the Attenuation of Neurodegenerative Disease Proteins and Motor Deficit in an Alzheimer’s Disease Mouse Model by Bin Tang, Wu Zeng, Lin Lin Song, Hui Miao Wang, Li Qun Qu, Hang Hong Lo, Lu Yu, An Guo Wu, Vincent Kam Wai Wong, Betty Yuen Kwan Law

“…In vitro cellular models confirmed that three of the selected exosome-encapsulated natural compounds—baicalin, hederagenin and neferine—could reduce the level of neurodegenerative disease mutant proteins—including huntingtin 74 (HTT74), P301L tau and A53T α-synuclein (A53T α-syn)—more effectively than the compounds alone. …”
Get full text

Resting-state fMRI reveals longitudinal alterations in brain network connectivity in the zQ175DN mouse model of Huntington's disease by Tamara Vasilkovska, Mohit H. Adhikari, Johan Van Audekerke, Somaie Salajeghe, Dorian Pustina, Roger Cachope, Haiying Tang, Longbin Liu, Ignacio Muñoz-Sanjuán, Annemie Van der Linden, Marleen Verhoye

“…Huntington's disease is an autosomal, dominantly inherited neurodegenerative disease caused by an expansion of the CAG repeats in exon 1 of the huntingtin gene. Neuronal degeneration and dysfunction that precedes regional atrophy result in the impairment of striatal and cortical circuits that affect the brain's large-scale network functionality. …”
Get full text

Proteomics profiling for the global and acetylated proteins of papillary thyroid cancers by Wei Wei, Yuezhang Wu, Dong-Dong Chen, Yuntao Song, Guohui Xu, Qi Shi, Xiao-Ping Dong

“…The top 3 up- and down-regulated DEPs were fibronectin 1, KRT1B protein and chitinase-3-like protein 1, as well as keratin, type I cytoskeletal 16, A-gamma globin Osilo variant and Huntingtin interacting protein-1. The top 3 up- and down-regulated DEAPs were ribosomal protein L18a-like protein, alpha-1-acid glycoprotein 2 and eukaryotic peptide chain release factor GTP-binding subunit ERF3A, as well as trefoil factor 3, thyroglobulin and histone H2B. …”
Get full text

Allele-specific quantitation of ATXN3 and HTT transcripts in polyQ disease models by Paweł Joachimiak, Adam Ciesiołka, Emilia Kozłowska, Paweł M. Świtoński, Grzegorz Figura, Agata Ciołak, Grażyna Adamek, Magdalena Surdyka, Żaneta Kalinowska-Pośka, Maciej Figiel, Nicholas S. Caron, Michael R. Hayden, Agnieszka Fiszer

“…Results To precisely quantify expression in an allele-specific manner, we used SNP variants that are linked to either normal or CAG expanded alleles of the ataxin-3 (ATXN3) and huntingtin (HTT) genes in selected patient-derived cell lines. …”
Get full text

Longitudinal alterations in brain perfusion and vascular reactivity in the zQ175DN mouse model of Huntington’s disease by Tamara Vasilkovska, Somaie Salajeghe, Verdi Vanreusel, Johan Van Audekerke, Marlies Verschuuren, Lydiane Hirschler, Jan Warnking, Isabel Pintelon, Dorian Pustina, Roger Cachope, Ladislav Mrzljak, Ignacio Muñoz-Sanjuan, Emmanuel L. Barbier, Winnok H. De Vos, Annemie Van der Linden, Marleen Verhoye

“…Abstract Background Huntington’s disease (HD) is marked by a CAG-repeat expansion in the huntingtin gene that causes neuronal dysfunction and loss, affecting mainly the striatum and the cortex. …”
Get full text

Investigating the Transition of Pre-Symptomatic to Symptomatic Huntington’s Disease Status Based on Omics Data by Christiana C. Christodoulou, Margarita Zachariou, Marios Tomazou, Evangelos Karatzas, Christiana A. Demetriou, Eleni Zamba-Papanicolaou, George M. Spyrou

“…Huntington’s disease is a rare neurodegenerative disease caused by a cytosine–adenine–guanine (CAG) trinucleotide expansion in the Huntingtin (<i>HTT</i>) gene. Although Huntington’s disease (HD) is well studied, the pathophysiological mechanisms, genes and metabolites involved in HD remain poorly understood. …”
Get full text

Uncovering the Genetic and Molecular Features of Huntington’s Disease in Northern Colombia by Mostapha Ahmad, Margarita R. Ríos-Anillo, Johan E. Acosta-López, Martha L. Cervantes-Henríquez, Martha Martínez-Banfi, Wilmar Pineda-Alhucema, Pedro Puentes-Rozo, Cristian Sánchez-Barros, Andrés Pinzón, Hardip R. Patel, Jorge I. Vélez, José Luis Villarreal-Camacho, David A. Pineda, Mauricio Arcos-Burgos, Manuel Sánchez-Rojas

“…Huntington’s disease (HD) is a genetic disorder caused by a CAG trinucleotide expansion in the huntingtin (<i>HTT</i>) gene. Juan de Acosta, Atlántico, a city located on the Caribbean coast of Colombia, is home to the world’s second-largest HD pedigree. …”
Get full text

Single-nuclei transcriptome analysis of Huntington disease iPSC and mouse astrocytes implicates maturation and functional deficits by Andrea M. Reyes-Ortiz, Edsel M. Abud, Mara S. Burns, Jie Wu, Sarah J. Hernandez, Nicolette McClure, Keona Q. Wang, Corey J. Schulz, Ricardo Miramontes, Alice Lau, Neethu Michael, Emily Miyoshi, David Van Vactor, John C. Reidling, Mathew Blurton-Jones, Vivek Swarup, Wayne W. Poon, Ryan G. Lim, Leslie M. Thompson

“…Summary: Huntington disease (HD) is a neurodegenerative disorder caused by expanded CAG repeats in the huntingtin gene that alters cellular homeostasis, particularly in the striatum and cortex. …”
Get full text

Theoretical design for covering Engeletin with functionalized nanostructure-lipid carriers as neuroprotective agents against Huntington’s disease via the nasal-brain route by Smriti, Madhav Singla, Saurabh Gupta, Omji Porwal, Dalal Nasser Binjawhar, Amany A. Sayed, Pooja Mittal, Fatma M. El-Demerdash, Mohammad Algahtani, Sachin Kumar Singh, Sachin Kumar Singh, Kamal Dua, Kamal Dua, Kamal Dua, Gaurav Gupta, Gaurav Gupta, Puneet Bawa, Ahmed E. Altyar, Ahmed E. Altyar, Mohamed M. Abdel-Daim, Mohamed M. Abdel-Daim

“…We then proposed a theoretical formulation of engeletin-nanostructured lipid nanocarriers for improved delivery across the blood-brain barrier (BBB) and increased bioavailability.Results: HD is an autosomal dominant neurological illness caused by a repetition of the cytosine-adenine-guanine trinucleotide, producing a mutant protein called Huntingtin, which degenerates the brain’s motor and cognitive functions. …”
Get full text

Targeting DNA topoisomerases or checkpoint kinases results in an overload of chaperone systems, triggering aggregation of a metastable subproteome by Wouter Huiting, Suzanne L Dekker, Joris CJ van der Lienden, Rafaella Mergener, Maiara K Musskopf, Gabriel V Furtado, Emma Gerrits, David Coit, Mehrnoosh Oghbaie, Luciano H Di Stefano, Hein Schepers, Maria AWH van Waarde-Verhagen, Suzanne Couzijn, Lara Barazzuol, John LaCava, Harm H Kampinga, Steven Bergink

“…Aggregation-prone model substrates, including Huntingtin exon 1 containing an expanded polyglutamine repeat, aggregate faster under these conditions. …”
Get full text

Neuropsychological performance and disease burden in individuals at risk of developing Huntington disease by F. Paz-Rodríguez, M. Chávez-Oliveros, A. Bernal-Pérez, A. Ochoa-Morales, L. Martínez-Ruano, A. Camacho-Molina, Y. Rodríguez-Agudelo

“…Objective: To compare performance in cognitive tasks of carriers (HDC) and non-carriers (non-HDC) of the huntingtin gene and to analyse the variability in performance as a function of disease burden and proximity to the manifest stage (age of symptom onset). …”
Get full text

Circulating U13 Small Nucleolar RNA as a Potential Biomarker in Huntington’s Disease: A Pilot Study by Silvia Romano, Carmela Romano, Martina Peconi, Alessia Fiore, Gianmarco Bellucci, Emanuele Morena, Fernanda Troili, Virginia Cipollini, Viviana Annibali, Simona Giglio, Rosella Mechelli, Michela Ferraldeschi, Liana Veneziano, Elide Mantuano, Gabriele Sani, Andrea Vecchione, Renato Umeton, Franco Giubilei, Marco Salvetti, Rosa Maria Corbo, Daniela Scarabino, Giovanni Ristori

“…SNORD13 correlated with the status of the mutant huntingtin carrier (r = 0.73; <i>p</i> < 0.001) and the disease duration (r = 0.59; <i>p</i> = 0.003). …”
Get full text

Ejecución neuropsicológica y carga de enfermedad en sujetos en riesgo de desarrollar enfermedad de Huntington by F. Paz-Rodríguez, M. Chávez-Oliveros, A. Bernal-Pérez, A. Ochoa-Morales, L. Martínez-Ruano, A. Camacho-Molina, Y. Rodríguez-Agudelo

“…Objective: To compare performance in cognitive tasks of carriers (HDC) and non-carriers (non-HDC) of the huntingtin gene and to analyse the variability in performance as a function of disease burden and proximity to the manifest stage (age of symptom onset). …”
Get full text

The GRP78-PERK axis contributes to memory and synaptic impairments in Huntington's disease R6/1 mice by Marc Espina, Nadia Di Franco, Martina Brañas-Navarro, Irene Rodriguez Navarro, Veronica Brito, Laura Lopez-Molina, Carlos Costas-Insua, Manuel Guzmán, Silvia Ginés

“…Particularly, in Huntington's disease (HD) mutant huntingtin (mHtt) toxicity involves disruption of the ER-associated degradation pathway and loss of the ER protein homeostasis leading to neuronal dysfunction and degeneration. …”
Get full text

Assembly and substrate recognition properties of human CCT subunits of the TRiC chaperonin by Sergeeva, Oksana A

Get full text