Results 111 to 120 of about 581,379 (326)

Dose-dependent reduction of somatic expansions but not Htt aggregates by di-valent siRNA-mediated silencing of MSH3 in HdhQ111 mice

Scientific Reports
Huntington's disease (HD) is a progressive neurodegenerative disorder caused by CAG trinucleotide repeat expansions in exon 1 of the HTT gene. In addition to germline CAG expansions, somatic repeat expansions in neurons also contribute to HD pathogenesis.
Rachelle Driscoll, Lucas Hampton, Neeta A. Abraham, J. Douglas Larigan, Nadine F. Joseph, Juan C. Hernandez-Vega, Sarah Geisler, Fu-Chia Yang, Matthew Deninger, David T. Tran, Natasha Khatri, Bruno M. D. C. Godinho, Garth A. Kinberger, Daniel R. Montagna, Warren D. Hirst, Catherine L. Guardado, Kelly E. Glajch, H. Moore Arnold, Corrie L. Gallant-Behm, Andreas Weihofen   +19 more
doaj   +1 more source

Brain tyrosinase overexpression implicates age-dependent neuromelanin production in Parkinson’s disease pathogenesis

Nature Communications, 2019
It is unclear if neuromelanin plays a role in Parkinson’s disease pathogenesis since common laboratory animals lack this pigment. Authors show here that overexpression of human tyrosinase in the substantia nigra of rats resulted in an age-dependent ...
Iria Carballo-Carbajal, Ariadna Laguna, Jordi Romero-Giménez, Thais Cuadros, Jordi Bové, Marta Martinez-Vicente, Annabelle Parent, Marta Gonzalez-Sepulveda, Núria Peñuelas, Albert Torra, Beatriz Rodríguez-Galván, Andrea Ballabio, Takafumi Hasegawa, Analía Bortolozzi, Ellen Gelpi, Miquel Vila   +15 more
doaj   +1 more source

Alpha- synuclein immunoreactivity in the enteric nervous system of human small intestine [PDF]

, 2018
Alpha-synuclein (α-syn) is a 140 amino acid protein, belonging to the synuclein family, expressed in mammalian neurons. Structural alterations of α-syn as well as its overexpression have been related to the onset and the progression of several human ...
Casini, Arianna, Chirletti, Piero, Vaccaro, Rosa   +2 more
core  

Sex Hormones Associate With Amyotrophic Lateral Sclerosis Risk and Survival

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Amyotrophic lateral sclerosis (ALS) risk differs by sex and age, implicating sex hormones as potential modifiers. This study examined plasma levels of biologically active sex hormones and their association with ALS odds and survival in cases (females n = 131, males n = 189) and controls (females n = 138, males n = 150) from the University of ...
Stephen A. Goutman, David G. Stouffer, Dae‐Gyu Jang, Jihyun Park, Benjamin J. Murdock, Richard J. Auchus   +5 more
wiley   +1 more source

Small Non-coding RNAs: New Class of Biomarkers and Potential Therapeutic Targets in Neurodegenerative Disease [PDF]

, 2019
Callum N. Watson, Antonio Belli, Valentina Di Pietro   +2 more
openalex   +1 more source

Developmental, Neuroanatomical and Cellular Expression of Genes Causing Dystonia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Dystonia is one of the most common movement disorders, with variants in multiple genes identified as causative. However, an understanding of which developmental stages, brain regions, and cell types are most relevant is crucial for developing relevant disease models and therapeutics.
Darren Cameron, Nicholas E. Clifton, Daniel Cabezas de la Fuente, Peter Holmans, Nicholas J. Bray, Kathryn J. Peall   +5 more
wiley   +1 more source

Targeting the hypothalamic a11 nucleus to treat parkinsonian-like nociceptive impairments

npj Parkinson's Disease
Pain is a common non-motor symptom in Parkinson’s disease (PD), yet treatment options remain limited due to incomplete understanding of underlying mechanisms.
Keri-Ann Charles, Rabia Bouali-Benazzouz, Frédéric Naudet, Franck Aby, Pascal Fossat, Abdelhamid Benazzouz   +5 more
doaj   +1 more source

The influence of 17q21.31 and APOE genetic ancestry on neurodegenerative disease risk

, 2022
Nadia V. Harerimana, Alison Goate, Kathryn R. Bowles   +2 more
openalex   +1 more source

An Out‐of‐Place Etiology: Recognizing FMR1 Premutation in the Memory Clinic

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT The FMR1 gene premutation (55–200 CGG repeats) is usually associated with a wide range of symptoms and phenotypes within the Fragile X‐tremor/ataxia syndrome (FXTAS), but may also manifest as predominant or isolated cognitive decline. We describe three male patients referred for progressive cognitive impairment and behavioral changes. Standard
Guido Greco, Caterina Motta, Enrica Marchionni, Maria Rosaria D'Apice, Carlangelo Carrese, Giuseppe Novelli, Alessandro Martorana, Chiara Giuseppina Bonomi   +7 more
wiley   +1 more source

An unsupervised XAI framework for dementia detection with context enrichment

Scientific Reports
Explainable Artificial Intelligence (XAI) methods enhance the diagnostic efficiency of clinical decision support systems by making the predictions of a convolutional neural network’s (CNN) on brain imaging more transparent and trustworthy. However, their
Devesh Singh, Yusuf Brima, Fedor Levin, Martin Becker, Bjarne Hiller, Andreas Hermann, Irene Villar-Munoz, Lukas Beichert, Alexander Bernhardt, Katharina Buerger, Michaela Butryn, Peter Dechent, Emrah Düzel, Michael Ewers, Klaus Fliessbach, Silka D. Freiesleben, Wenzel Glanz, Stefan Hetzer, Daniel Janowitz, Doreen Görß, Ingo Kilimann, Okka Kimmich, Christoph Laske, Johannes Levin, Andrea Lohse, Falk Luesebrink, Matthias Munk, Robert Perneczky, Oliver Peters, Lukas Preis, Josef Priller, Johannes Prudlo, Diana Prychynenko, Boris S. Rauchmann, Ayda Rostamzadeh, Nina Roy-Kluth, Klaus Scheffler, Anja Schneider, Louise Droste zu Senden, Björn H. Schott, Annika Spottke, Matthis Synofzik, Jens Wiltfang, Frank Jessen, Marc-André Weber, Stefan J. Teipel, Martin Dyrba   +46 more
doaj   +1 more source