Results 1 to 10 of about 52,129 (204)

Lumbar puncture safety and tolerability in premanifest and manifest Huntington’s disease: a multi-analysis cross-sectional study

Scientific Reports, 2022
Lumbar puncture (LP) has become increasingly common for people with Huntington’s disease (HD) both to administer intrathecal investigational medicinal products and to collect cerebrospinal fluid to develop biological markers to track disease stage and ...
Yara Refaat Hassan, Filipe Brogueira Rodrigues, Paul Zeun, Lauren M. Byrne, Carlos Estevez-Fraga, Rosanna Tortelli, Rachael I. Scahill, Edward J. Wild, Sarah J. Tabrizi   +8 more
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Human Huntington’s disease pluripotent stem cell-derived microglia develop normally but are abnormally hyper-reactive and release elevated levels of reactive oxygen species

Journal of Neuroinflammation, 2021
Background Neuroinflammation may contribute to the pathogenesis of Huntington’s disease, given evidence of activated microglia and elevated levels of inflammatory molecules in disease gene carriers, even those many years from symptom onset. We have shown
Grace C. O’Regan, Sahar H. Farag, Caroline S. Casey, Alison Wood-Kaczmar, Jennifer M. Pocock, Sarah J. Tabrizi, Ralph Andre   +6 more
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Mislocalization of Nucleocytoplasmic Transport Proteins in Human Huntington’s Disease PSC-Derived Striatal Neurons

Frontiers in Cellular Neuroscience, 2021
Huntington’s disease (HD) is an inherited neurodegenerative disorder caused by a CAG repeat expansion in the huntingtin gene (HTT). Disease progression is characterized by the loss of vulnerable neuronal populations within the striatum.
Jenny Lange, Alison Wood-Kaczmar, Aneesa Ali, Sahar Farag, Rhia Ghosh, Jennifer Parker, Caroline Casey, Yumiko Uno, Akiyoshi Kunugi, Patrizia Ferretti, Ralph Andre, Sarah J. Tabrizi, Sarah J. Tabrizi   +12 more
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Ablation of kynurenine 3-monooxygenase rescues plasma inflammatory cytokine levels in the R6/2 mouse model of Huntington’s disease

Scientific Reports, 2021
Kynurenine 3-monooxygenase (KMO) regulates the levels of neuroactive metabolites in the kynurenine pathway (KP), dysregulation of which is associated with Huntington’s disease (HD) pathogenesis. KMO inhibition leads to increased levels of neuroprotective
Marie Katrin Bondulich, Yilan Fan, Yeojin Song, Flaviano Giorgini, Gillian P. Bates   +4 more
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Brain-derived neurotrophic factor in cerebrospinal fluid and plasma is not a biomarker for Huntington’s disease

Scientific Reports, 2021
Brain-derived neurotrophic factor (BDNF) is implicated in the survival of striatal neurons. BDNF function is reduced in Huntington’s disease (HD), possibly because mutant huntingtin impairs its cortico-striatal transport, contributing to striatal ...
Zhen-Yi Andy Ou, Lauren M. Byrne, Filipe B. Rodrigues, Rosanna Tortelli, Eileanoir B. Johnson, Martha S. Foiani, Marzena Arridge, Enrico De Vita, Rachael I. Scahill, Amanda Heslegrave, Henrik Zetterberg, Edward J. Wild   +11 more
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Validating Automated Segmentation Tools in the Assessment of Caudate Atrophy in Huntington’s Disease

Frontiers in Neurology, 2021
Background: Neuroimaging shows considerable promise in generating sensitive and objective outcome measures for therapeutic trials across a range of neurodegenerative conditions.
Nina M. Mansoor, Tishok Vanniyasingam, Ian Malone, Nicola Z. Hobbs, Elin Rees, Alexandra Durr, Raymund A. C. Roos, Bernhard Landwehrmeyer, Sarah J. Tabrizi, Eileanoir B. Johnson, Rachael I. Scahill   +10 more
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A Multi-Study Model-Based Evaluation of the Sequence of Imaging and Clinical Biomarker Changes in Huntington’s Disease

Frontiers in Big Data, 2021
Understanding the order and progression of change in biomarkers of neurodegeneration is essential to detect the effects of pharmacological interventions on these biomarkers.
Peter A. Wijeratne, Peter A. Wijeratne, Eileanoir B. Johnson, Sarah Gregory, Nellie Georgiou-Karistianis, Jane S. Paulsen, Rachael I. Scahill, Sarah J. Tabrizi, Daniel C. Alexander   +8 more
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The heat shock response, determined by QuantiGene multiplex, is impaired in HD mouse models and not caused by HSF1 reduction

Scientific Reports, 2021
Huntington’s disease (HD) is a devastating neurodegenerative disorder, caused by a CAG/polyglutamine repeat expansion, that results in the aggregation of the huntingtin protein, culminating in the deposition of inclusion bodies in HD patient brains.
Casandra Gomez-Paredes, Michael A. Mason, Bridget A. Taxy, Aikaterini S. Papadopoulou, Paolo Paganetti, Gillian P. Bates   +5 more
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Abnormal molecular signatures of inflammation, energy metabolism, and vesicle biology in human Huntington disease peripheral tissues

Genome Biology, 2022
Background A major challenge in neurodegenerative diseases concerns identifying biological disease signatures that track with disease progression or respond to an intervention. Several clinical trials in Huntington disease (HD), an inherited, progressive
Andreas Neueder, Kerstin Kojer, Tanja Hering, Daniel J. Lavery, Jian Chen, Nathalie Birth, Jaqueline Hallitsch, Sonja Trautmann, Jennifer Parker, Michael Flower, Huma Sethi, Salman Haider, Jong-Min Lee, Sarah J. Tabrizi, Michael Orth   +14 more
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Correlative light and electron microscopy suggests that mutant huntingtin dysregulates the endolysosomal pathway in presymptomatic Huntington’s disease

Acta Neuropathologica Communications, 2021
Huntington’s disease (HD) is a late onset, inherited neurodegenerative disorder for which early pathogenic events remain poorly understood. Here we show that mutant exon 1 HTT proteins are recruited to a subset of cytoplasmic aggregates in the cell ...
Ya Zhou, Thomas R. Peskett, Christian Landles, John B. Warner, Kirupa Sathasivam, Edward J. Smith, Shu Chen, Ronald Wetzel, Hilal A. Lashuel, Gillian P. Bates, Helen R. Saibil   +10 more
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