Results 91 to 100 of about 52,129 (204)

SUMO-modifying Huntington’s disease

IBRO Neuroscience Reports, 2022
Small ubiquitin-like modifiers, SUMOs, are proteins that are conjugated to target substrates and regulate their functions in a post-translational modification called SUMOylation.
Ericks S. Soares, Rui D. Prediger, Patricia S. Brocardo, Helena I. Cimarosti   +3 more
doaj  

nNOS(+) striatal neurons, a subpopulation spared in Huntington's Disease, possess functional NMDA receptors but fail to generate mitochondrial ROS in response to an excitotoxic challenge. [PDF]

, 2013
Huntington's disease (HD) is a neurodegenerative condition characterized by severe neuronal loss in the cortex and striatum that leads to motor and behavioral deficits.
Canzoniero, Lorella MT, Choi, Dennis W, Dugan, Laura L, Granzotto, Alberto, Sensi, Stefano L, Turetsky, Dorothy M   +5 more
core   +2 more sources

Major Superficial White Matter Abnormalities in Huntington disease

Frontiers in Neuroscience, 2016
BackgroundThe late myelinating superficial white matter at the juncture of the cortical gray and white matter comprising the intracortical myelin and short-range association fibers has not received attention in Huntington’s disease.
Owen Robert Phillips, Owen Robert Phillips, Shantanu H Joshi, Ferdinando eSquitieri, Ferdinando eSquitieri, Cristina eSanchez-Castaneda, Katherine eNarr, David W Shattuck, Carlo eCaltagirone, Carlo eCaltagirone, Umberto eSabatini, Margherita eDi Paola, Margherita eDi Paola   +12 more
doaj   +1 more source

Organisational and neuromodulatory underpinnings of structural-functional connectivity decoupling in patients with Parkinson’s disease

Communications Biology, 2021
Zarkali et al. identify two organizational gradients to structural-functional connectivity decoupling in Parkinson’s disease and relate spatial patterns of decoupling to the expression of neurotransmitter receptors.
Angeliki Zarkali, Peter McColgan, Louise-Ann Leyland, Andrew J. Lees, Geraint Rees, Rimona S. Weil   +5 more
doaj   +1 more source

The phasor-FLIM fingerprints reveal shifts from OXPHOS to enhanced glycolysis in Huntington Disease. [PDF]

, 2016
Huntington disease (HD) is an autosomal neurodegenerative disorder caused by the expansion of Polyglutamine (polyQ) in exon 1 of the Huntingtin protein. Glutamine repeats below 36 are considered normal while repeats above 40 lead to HD.
Digman, Michelle A, Marsh, J Lawrence, Sameni, Sara, Syed, Adeela   +3 more
core   +1 more source

Epigenetics and triplet-repeat neurological diseases [PDF]

, 2015
The term ‘junk DNA’ has been reconsidered following the delineation of the functional significance of repetitive DNA regions. Typically associated with centromeres and telomeres, DNA repeats are found in nearly all organisms throughout their genomes ...
Festenstein, RJ, Nageshwaran, S
core   +2 more sources

Huntingtin HTT1a is generated in a CAG repeat-length-dependent manner in human tissues

Molecular Medicine
Background The disease-causing mutation in Huntington disease (HD) is a CAG trinucleotide expansion in the huntingtin (HTT) gene. The mutated CAG tract results in the production of a small RNA, HTT1a, coding for only exon 1 of HTT.
Franziska Hoschek, Julia Natan, Maximilian Wagner, Kirupa Sathasivam, Alshaimaa Abdelmoez, Björn von Einem, Gillian P. Bates, G. Bernhard Landwehrmeyer, Andreas Neueder   +8 more
doaj   +1 more source

Huntingtons sykdom - Symptombeskrivelse i faglitteratur og skjønnlitteratur [PDF]

, 2010
Huntington’s disease is a genetic neurodegenerative disorder that affects a person’s body, mind and behavior. The disease has been portrayed in several works of fiction.
Moldekleiv, Hanna Helena
core  

Integrated genomics and proteomics define huntingtin CAG length-dependent networks in mice. [PDF]

, 2016
To gain insight into how mutant huntingtin (mHtt) CAG repeat length modifies Huntington's disease (HD) pathogenesis, we profiled mRNA in over 600 brain and peripheral tissue samples from HD knock-in mice with increasing CAG repeat lengths.
A Dobin, A Hodges, A Kuhn, A Pal, A Reiner, A Valencia, Andreas Tebbe, B Zhang, B Zhang, BM Bolstad, C Zuccato, CA Ross, Christoph Schaab, Daniel J Lavery, David Howland, DI Shirasaki, Doxa Chatzopoulou, DV Zaykin, EH Aylward, Eliana Marisa Ramos, ES Deneris, ES Lein, Fuying Gao, G Fishell, GA Smith, Giovanni Coppola, HT Orr, I Al-Ramahi, IS Seong, Ismael Al-Ramahi, J Cox, J Cox, J Labbadia, JA Miller, JC Jacobsen, JE Phillips, Jeffrey P Cantle, Jeffrey S Aaronson, JF Gusella, JF Gusella, Jim Rosinski, JM Dowen, JM Van Raamsdonk, JP Vonsattel, Juan Botas, K Becanovic, K Monahan, K Sharma, Karla El-Zein, LB Menalled, LB Menalled, LB Menalled, LS Kaltenbach, M Biagioli, M Heiman, M MACDONALD, M Mann, M Mielcarek, MA Pouladi, MC Oldham, MI Love, MK Lobo, MT Lin, N Wang, Nan Wang, P Giles, P Grange, P Langfelder, P Langfelder, P Langfelder, P Langfelder, P Langfelder, Peter Langfelder, PF Durrenberger, RC Gentleman, S Anders, S Horvath, S Toyoda, Sandeep Deverasetty, Seung Kwak, Steve Horvath, T Geiger, T Lu, WE Johnson, WV Chen, X Gu, X Gu, X William Yang, XH Lu, Xiao-Hong Lu, Y Benjamini, Y Guo, Y Shen, Y Wang, Yining Zhao   +94 more
core   +1 more source

Exploring the brain-body composition relationship in Huntington's disease.

Journal of musculoskeletal & neuronal interactions, 2020
Changes in body composition are a common feature of Huntington's disease (HD) and are associated with disease progression. However, whether these changes in body composition are associated with degeneration of the striatum is unknown. This study aimed to explore the associations between body composition metrics and striatal brain volume in individuals ...
Mitchell Turner, Alvaro Reyes, Danielle M. Bartlett, Scott Culpin, Nicolas H. Hart, Luca Hardt, Kirk Feindel, Govinda R. Poudel, Mel Ziman, Travis M. Cruickshank   +9 more
openaire   +2 more sources