Results 61 to 70 of about 93,886 (309)

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

Additional file 1: of Manifestation of Huntingtonâ s disease pathology in human induced pluripotent stem cell-derived neurons

, 2016
Figure S1. PSC lines characterization. Figure S2. HD and WT PSC derived neurons analysis. Figure S3. Nuclear indentations in HD PSC derived neurons. Figure S4. Classification of up-regulated genes in HD neurons compared to WT neurons with GOrilla tool by molecular function. Figure S5.
Nekrasov, Evgeny, Vigont, Vladimir, Klyushnikov, Sergey, Lebedeva, Olga, Vassina, Ekaterina, Bogomazova, Alexandra, Chestkov, Ilya, Semashko, Tatiana, Kiseleva, Elena, Suldina, Lyubov, Bobrovsky, Pavel, Zimina, Olga, Ryazantseva, Maria, Skopin, Anton, Illarioshkin, Sergey, Kaznacheyeva, Elena, Lagarkova, Maria, Kiselev, Sergey   +17 more
openaire   +1 more source

Discovery and Targeted Proteomic Studies Reveal Striatal Markers Validated for Huntington's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Clinical trials for Huntington's disease (HD) enrolling persons before clinical motor diagnosis (CMD) lack validated biomarkers. This study aimed to conduct an unbiased discovery analysis and a targeted examination of proteomic biomarkers scrutinized by clinical validation. Methods Cerebrospinal fluid was obtained from PREDICT‐HD and
Daniel Chelsky, Cara Joyce, H. Jeremy Bockholt, Paul A. Rudnick, William H. Adams, Fiona McAllister, Justin W. Smock, Michael A. Newton, Jane S. Paulsen   +8 more
wiley   +1 more source

Monkey hybrid stem cells develop cellular features of Huntington's disease

BMC Cell Biology, 2010
Background Pluripotent stem cells that are capable of differentiating into different cell types and develop robust hallmark cellular features are useful tools for clarifying the impact of developmental events on neurodegenerative diseases such as ...
Lorthongpanich Chanchao, Johnson Zach, Yang Shang-Hsun, Snyder Brooke R, Cheng Pei-Hsun, Cheng Eric CH, Laowtammathron Chuti, Kuo Hung-Chih, Parnpai Rangsun, Chan Anthony WS   +9 more
doaj   +1 more source

Cholinergic deficits selectively boost cortical intratelencephalic control of striatum in male Huntington’s disease model mice

Nature Communications, 2023
The corticostriatal dysfunction underlying Huntington’s disease remains incompletely understood. Here, the authors find increased intratelencephalic connectivity resulting from deficient cholinergic transmission in a mouse model of Huntington’s disease.
Tristano Pancani, Michelle Day, Tatiana Tkatch, David L. Wokosin, Patricia González-Rodríguez, Jyothisri Kondapalli, Zhong Xie, Yu Chen, Vahri Beaumont, D. James Surmeier   +9 more
doaj   +1 more source

Huntington's disease is a multi-system disorder. [PDF]

, 2015
Huntingtons disease (HD) is one of the most common non-curable rare diseases and is characterized by choreic movements, psychiatric symptoms, and slowly progressive dementia.
Mielcarek, M
core   +1 more source

Additional file 1 of Identify Huntingtonâ s disease associated genes based on restricted Boltzmann machine with RNA-seq data

, 2017
Supplementary Material. The detail derivation process for solving the gradients of RBMs learning is given in the Supplementary Material. (PDF 321 kb)
Jiang, Xue, Zhang, Han, Duan, Feng, Xiongwen Quan   +3 more
openaire   +1 more source

Characterization of Clinical Phenotype to Glial Fibrillary Acidic Protein Concentrations in Alexander Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To determine the concentration of glial fibrillary acidic protein (GFAP) in cerebrospinal fluid (CSF) and plasma in Alexander disease (AxD) and whether GFAP levels are predictive of disease phenotypes. Methods CSF and plasma were collected (longitudinally when available) from AxD participants and non‐AxD controls.
Amy T. Waldman, Asako Takanohashi, Joshua Y. Joung, Geraldine W. Liu, Kaley Arnold, Amy Pizzino, Walter Faig, Sarah Woidill, Sona Narula, Adeline L. Vanderver   +9 more
wiley   +1 more source

Huntington's Disease

Pediatric Neurology Briefs, 1989
The positron-emission tomography (PET) findings in a seven year old girl with the juvenile form of Huntington's disease are described from the Department of Neurology and Neurosurgery, Montreal Neurological Institute and Hospital, Montreal, Canada.
J Gordon Millichap
doaj   +1 more source

Clinical Manifestation of Juvenile and Pediatric HD Patients: A Retrospective Case Series

Brain Sciences, 2020
Background: Studies on the clinical manifestation and course of disease in children suffering from Huntington’s disease (HD) are rare. Case reports of juvenile HD (onset ≤ 20 years) describe heterogeneous motoric and non-motoric symptoms, often ...
Jannis Achenbach, Charlotte Thiels, Thomas Lücke, Carsten Saft   +3 more
doaj   +1 more source