Results 141 to 150 of about 415,236 (314)

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

Protein complexes in neurodegenerative diseases [PDF]

, 2012
The 14-3-3 family of proteins are important signalling proteins involved in a number of cellular processes. These include cell cycle regulation, apoptosis, signal transduction and cell signalling.
Houston, Nicola P.
core  

Clinical Validation of Plasma p‐217tau in Neurological Diseases

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Plasma p‐217tau is a minimally invasive but specific biomarker for diagnosing Alzheimer's disease (AD). However, its disease specificity remains to be clinically evaluated. We validated the reliability of the p‐217tau biomarker in 12 other neurological diseases.
Takeshi Kawarabayashi, Takumi Nakamura, Ryoma Takahashi, Tetsuya Ueda, Seiji Kinoshita, Chikage Uchida, Takashi Sugawara, Kentaro Hashimoto, Kunihiko Ishizawa, Masakuni Amari, Hiroo Kasahara, Yoshio Ikeda, Masamitsu Takatama, Mikio Shoji   +13 more
wiley   +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

CSF Monoamine Metabolites and Cognitive Trajectory in Early Parkinson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Imaging and postmortem studies indicate that abnormalities in monoaminergic neurotransmission contribute to cognitive impairment in Parkinson's disease (PD). However, it remains uncertain if cerebrospinal fluid (CSF) monoamine metabolites can serve as biomarkers of cognitive decline in early PD.
Jing‐Yu Shao, Rong Li, Yu‐Xiang Jiao, Kai Ma, Hong‐Qi Yang, Zheng‐Yu Sun, Jie‐Wen Zhang, Shuai Chen   +7 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

ALDOA Promotes Glycolysis and NLRP3/GSDMD Pyroptosis to Accelerate ALS Progression

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is characterized by progressive motor neuron degeneration. Glycolytic dysregulation is implicated in disease progression, yet the underlying mechanisms remain unclear. This study investigates how Aldolase A (ALDOA) drives ALS progression through glycolysis‐mediated motor neuron pyroptosis.
Kaixin Yan, Yan Jiang, Yuxuan Yong, Tianshuo Zhang, Niannian Zhang, Qianqian Zeng, Xue Gong, Li Meng, Fangfang Bi, Yongmin Liu   +9 more
wiley   +1 more source

Role of apolipoprotein E in neurodegenerative diseases

, 2015
Vo Van Giau,1 Eva Bagyinszky,1 Seong Soo A An,1 SangYun Kim2 1Department of Bionano Technology, Gachon Medical Research Institute, Gachon University, Seongnam, South Korea; 2Department of Neurology, Seoul National University College of Medicine in Seoul
Kim SY, An SS, Giau VV, Bagyinszky E
core  

Relationship Between Neurologic Symptoms and Signs and FMR1 Genotype in Premutation Carriers

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Fragile X‐associated Tremor/Ataxia Syndrome (FXTAS) is the most severe late‐onset condition caused by a premutation in the FMR1 gene, characterized by expanded CGG triplet repeats of 55–200. Clinical presentations of FXTAS, including gait ataxia, kinetic tremor, cognitive decline, and rare Parkinsonism, are linked to ...
Flora Tassone, Freddy Chafota, Miguel E. Rentería, Randi J. Hagerman, Ellery Santos, Anna Atkinson, Nicholas G. Martin, Elsdon Storey, Danuta Z. Loesch   +8 more
wiley   +1 more source

Characterization of visual cognition in pre-manifest, manifest and reduced penetrance Huntington’s disease

Scientific Reports
Cognitive and visual impairment are common in Huntington’s Disease (HD) and may precede motor diagnosis. We investigate the early presence of visual cognitive deficits in 181 participants, including HD carriers (40 pre-manifest, 30 early manifest, 27 ...
Rocío Del Pino, Maria Ángeles Acera, Amaia Ortiz de Echevarría, Beatriz Tijero, Marta Ruiz-Lopez, Johanne Somme, Javier Ruiz-Martínez, Andrea Gabilondo, Ioana M. Croitoru, Lara Pardina, Naia Ayo-Mentxakatorre, Ane Murueta-Goyena, Iñigo Gabilondo, Rosario Sanchez-Pernaute, Tamara Fernández-Valle, Juan Carlos Gómez Esteban   +15 more
doaj   +1 more source