Results 71 to 80 of about 6,618 (141)

From Yeast to Therapeutics: Modeling Neurodegenerative Diseases in Saccharomyces cerevisiae

Yeast, Volume 42, Issue 12, Page 283-302, December 2025.
Yeast plasmids expressing human Aβ‐42, α‐syn, htt, and TDP‐43. Their fate includes an equilibrium between the endocytic pathway and aggregates that potentially disrupt endocytosis, vesicular transport, vacuolar autophagy, and mitochondrial activity. ABSTRACT Here, we review the use of Saccharomyces cerevisiae as a powerful model organism for studying ...
Jose Ribamar Ferreira‐Junior, Vittoria de Lima Camandona, Mario H. Barros   +2 more
wiley   +1 more source

Wheel running from a juvenile age delays onset of specific motor deficits but does not alter protein aggregate density in a mouse model of Huntington's disease

BMC Neuroscience, 2008
Background Huntington's disease (HD) is a neurodegenerative disorder predominantly affecting the cerebral cortex and striatum. Transgenic mice (R6/1 line), expressing a CAG repeat encoding an expanded polyglutamine tract in the N-terminus of the ...
Spires Tara L, Cordery Patricia M, van Dellen Anton, Blakemore Colin, Hannan Anthony J   +4 more
doaj   +1 more source

Mutations in TITF-1 are associated with benign hereditary chorea [PDF]

, 2002
Benign hereditary chorea (BHC) (MIM 118700) is an autosomal dominant movement disorder. The early onset of symptoms (usually before the age of 5 years) and the observation that in some BHC families the symptoms tend to decrease in ...
Arts, W.F.M. (Willem Frans), Breedveld, G.J. (Guido), Danesino, C. (Cesare), Dongen, J.W.F. (Jeroen) van, Dure, L.S., Grüters, A. (Annette), Guala, A. (Andrea), Harper, P., Heutink, P. (Peter), Joosse, M. (Marijke), Krude, H., Lazarou, L.P., Linde, H. van der, MacDonald, M.E., Oostra, B.A. (Ben), Percy, A.K., Vries, B.B.A. (Bert) de   +16 more
core   +3 more sources

Clinical application of single‐cell RNA sequencing in disease and therapy

Clinical and Translational Medicine, Volume 15, Issue 11, November 2025.
This review provides a comprehensive overview of the application of scRNA‐seq in revisiting the somatic cell evolutions in human diseases, as well as in biomarker discovery and drug development. Abstract Background The emergence of single‐cell RNA sequencing (scRNA‐seq) technology has revolutionized our capacity to study cell functions in complex ...
Aisha Shigna Nadukkandy, Sowmiya Kalaiselvan, Lin Lin, Yonglun Luo   +3 more
wiley   +1 more source

Astrocytes generated from patient induced pluripotent stem cells recapitulate features of Huntington’s disease patient cells

Molecular Brain, 2012
Background Huntington’s Disease (HD) is a devastating neurodegenerative disorder that clinically manifests as motor dysfunction, cognitive impairment and psychiatric symptoms. There is currently no cure for this progressive and fatal disorder.
Juopperi Tarja A, Kim Woon, Chiang Cheng-Hsuan, Yu Huimei, Margolis Russell L, Ross Christopher A, Ming Guo-li, Song Hongjun   +7 more
doaj   +1 more source

RNA Granules at the Crossroads of Synaptic Dysfunction and Neurodegeneration

Journal of Neurochemistry, Volume 169, Issue 11, November 2025.
Under physiological conditions, neuronal RNA granules (e.g., transport granules, activity‐dependent granules, processing bodies, and stress granules) cooperate to regulate mRNA transport, storage, and localized translation, thereby sustaining synaptic and neuronal functions.
Rita Nóbrega‐Martins, Beatriz Barros‐Santos, Georgia Papadimitriou, Ioannis Sotiropoulos, Benjamin Wolozin, Joana Margarida Silva   +5 more
wiley   +1 more source

Similar Progression of Morphological and Metabolic Phenotype in R6/2 Mice with Different CAG Repeats Revealed by In Vivo Magnetic Resonance Imaging and Spectroscopy. [PDF]

, 2016
BACKGROUND: Huntington's disease (HD) is caused by an unstable polyglutamine (CAG) repeat in the HD gene, whereby a CAG repeat length greater than ∼36 leads to the disease.
Morton, A Jennifer, Sawiak, Stephen J, Wood, Nigel I   +2 more
core   +1 more source

Update on Genetic Chorea

European Journal of Neurology, Volume 32, Issue 10, October 2025.
This review provides an updated clinical and genetic framework for the differential diagnosis of hereditary chorea. It guides neurologists through the interpretation of phenomenology, ancillary tests, and appropriate genetic techniques to achieve an accurate and timely diagnosis.
Jesús Pérez‐Pérez, Gonzalo Olmedo‐Saura, Saül Martínez‐Horta, Sara Bernal, Javier Pagonabarraga, Jaime Kulisevsky   +5 more
wiley   +1 more source

Enfermedad de Huntington: estado del arte [PDF]

, 2014
La enfermedad de Huntington es un desorden monogenético autosómico dominante, que genera un trastorno neurodegenerativo caracterizado por la pérdida de neuronas en diferentes partes del cerebro.
Rodas Sepúlveda, Carlos Daniel, Sierra García, Natalia   +1 more
core  

High-Content Chemical and RNAi Screens for Suppressors of Neurotoxicity in a Huntington's Disease Model [PDF]

, 2011
To identify Huntington's Disease therapeutics, we conducted high-content small molecule and RNAi suppressor screens using a Drosophila primary neural culture Huntingtin model.
A Fleming, A Yamamoto, AH Brand, AL Robertson, B Ravikumar, C Wu, Chaohong Wu, CJ O'Kane, CJ Thomas, D Banovic, D Hardie, D Kretzschmar, DC David, DE Jenne, DG Hay, DR Kuypers, E Letavernier, E Roze, E Sapp, E Sapp, E Trushina, GM Halliday, GR Juszczak, H Takeuchi, IC Lang-Rollin, J Bilen, J Bradford, J Doumanis, J Gayan, J Kluza, J Schulte, J Wang, J. Troy Littleton, JD Morrisett, JH Lee, JH Lin, Joost Schulte, JP Maroto, JS Paulsen, JS Steffan, JY Shin, K Inoki, Katharine J. Sepp, KJ Sepp, KL Lim, KT Min, M Arrasate, M DiFiglia, M DiFiglia, Mark R. Cookson, MW Kim, N Agrawal, NS Wexler, PC Chin, PC Nopoulos, Pengyu Hong, PK Auluck, PT Pham, R Graham, R Hertzberg, R Shaw, R Williams, R Zoncu, RA Fisher, RA Roos, RJ Shaw, S Gunawardena, S Martin, S Reipert, S Sarkar, S Zhang, S Zhang, SH Li, SS Ambegaokar, T Tamura, TC Ju, TC Kao, W van Veelen, W-CM Lee, X Fu, X Gu, X Gu, X Zhang, Z Li   +83 more
core   +4 more sources