Results 101 to 110 of about 83,768 (184)

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

Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients [PDF]

, 2009
Ataxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive disease due to mutations in the senataxin gene, causing progressive cerebellar ataxia with peripheral neuropathy, cerebellar atrophy, occasional oculomotor apraxia and elevated alpha ...
Ali-Pacha, L, Anheim, M, Arning, L, Barbot, C, Benhassine, T, Brice, A, Chabrol, B, Charles, P, Chbicheb, M, Coutinho, P, De Bleecker, Jan, Delaunoy, JP, Drouot, N, Durr, A, Fleury, M, Fritsch, M, Gazulla, J, Goizet, C, Hamri, A, Koenig, M, Koht, J, Le Ber, I, M'Zahem, A, Marelli, C, Monga, B, Mukhtar, M, Murphy, R, Pouget, J, Salih, M, Schols, L, Sequeiros, J, Synofzik, M, Tazir, M, Tranchant, C, Watanabe, M   +34 more
core   +1 more source

Juvenile Huntington's disease: a population-based study using the General Practice Research Database

BMJ Open, 2013
Background The juvenile form of Huntington's disease (HD) is a rare disorder. There are no population-based estimates of either its incidence or prevalence in any population in the world.
I. Douglas, S. Evans, M. Rawlins, L. Smeeth, S. Tabrizi, N. Wexler   +5 more
semanticscholar   +1 more source

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

Increased protein kinase C gamma activity induces Purkinje cell pathology in a mouse model of spinocerebellar ataxia 14

Neurobiology of Disease, 2014
Spinocerebellar ataxias (SCAs) are hereditary diseases leading to Purkinje cell degeneration and cerebellar dysfunction. Most forms of SCA are caused by expansion of CAG repeats similar to other polyglutamine disorders such as Huntington's disease.
Jingmin Ji, Melanie L. Hassler, Etsuko Shimobayashi, Nagendher Paka, Raphael Streit, Josef P. Kapfhammer   +5 more
doaj   +1 more source

“Clinical profile of genetically proven huntington's disease patients from Eastern India”

Annals of Indian Academy of Neurology, 2020
Background and Aims: To study the clinical profile of genetically proven Huntington's disease (HD) patients from eastern India. Methods: This cross sectional study selected patients of HD after genetic confirmation of expanded CAG repeats in Huntingtin ...
Zakir Hussain, Adreesh Mukherjee, Goutam Ganguly, Anindita Joardar, Sarnava Roy, Deb Sankar Guin, Uma Sinharoy, Atanu Biswas, Shyamal Kumar Das   +8 more
doaj   +1 more source

Corticostriatal Transmission Is Selectively Enhanced in Striatonigral Neurons with Postnatal Loss of Tsc1. [PDF]

, 2018
mTORC1 is a central signaling hub that integrates intra- and extracellular signals to regulate a variety of cellular metabolic processes. Mutations in regulators of mTORC1 lead to neurodevelopmental disorders associated with autism, which is ...
Bateup, Helen S, Benthall, Katelyn N, Ong, Stacie L   +2 more
core   +2 more sources

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

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

Adeno-Associated Viral Vector Serotype DJ-Mediated Overexpression of N171-82Q-Mutant Huntingtin in the Striatum of Juvenile Mice Is a New Model for Huntington’s Disease

Frontiers in Cellular Neuroscience, 2018
Huntington’s disease (HD) is an autosomal-dominant inherited neurodegenerative disorder characterized by motor, psychiatric and cognitive symptoms. HD is caused by an expansion of CAG repeats in the huntingtin (HTT) gene in various areas of the brain ...
Minhee Jang, Seung Eun Lee, Ik-Hyun Cho, Ik-Hyun Cho   +3 more
doaj   +1 more source