Results 61 to 70 of about 27,164 (223)

Functional Mapping of Neurodevelopmental Disease Pathways to Key Neurodevelopmental Processes Represented in the Developmental Neurotoxicity In Vitro Testing Battery

Advanced Science, EarlyView.
Human‐relevant methods are essential for modern chemical safety assessment. This study helps define the capabilities and boundaries of an in vitro testing battery for developmental neurotoxicity by exploring its biological applicability domain. By linking neurodevelopmental disease‐related pathways to key neurodevelopmental processes, the work enhances
Eliska Kuchovska, Kristina Bartmann, Georgea Raad, Mats Schade, Luiz Ladeira, Arif Dönmez, Jördis Klose, Nicolai Görts, Denis Polozij, Lynn‐Christin Saborowski, Farina Bendt, Bernard Staumont, Liesbet Geris, Katharina Koch, Ellen Fritsche   +14 more
wiley   +1 more source

Machado-Joseph Disease/Spinocerebellar Ataxia Type 3 [PDF]

, 2006
Machado-Joseph disease (MJD), also known as spinocerebellar ataxia type 3 (SCA3), may be the most common dominantly inherited ataxia in the world. Here I will review historical, clinical, neuropathological, genetic, and pathogenic features of MJD, and finish with a brief discussion of present, and possible future, treatment for this currently incurable
openaire   +2 more sources

Quantitative assessment of postural instability in spinocerebellar ataxia type 3 patients

Annals of Clinical and Translational Neurology, 2020
Objective Spinocerebellar ataxia type 3 (SCA3) is one of the most common hereditary neurodegenerative diseases, with balance instability as main symptom. Balance quantification is crucial for evaluating the efficacy of therapeutic interventions. However,
Xia‐Hua Liu, Ying Li, Hao‐Ling Xu, Arif Sikandar, Wei‐Hong Lin, Gui‐He Li, Xiao‐Fen Li, Alimire Alimu, Sheng‐Bin Yu, Xiang‐Hui Ye, Ning Wang, Jun Ni, Wan‐Jin Chen, Shi‐Rui Gan   +13 more
doaj   +1 more source

Generation of Common Marmoset Model Lines of Spinocerebellar Ataxia Type 3

Frontiers in Neuroscience, 2020
Animal models are indispensable tools in the development of innovative treatments for rare and incurable diseases. To date, there is almost no effective treatment for neurodegenerative diseases, and animal models that properly simulate human disease ...
Ikuo Tomioka, Ikuo Tomioka, Yoshitaka Nagai, Yoshitaka Nagai, Kazuhiko Seki   +4 more
doaj   +1 more source

Cerebellar neuronal dysfunction accompanies early motor symptoms in spinocerebellar ataxia type 3

Disease Models & Mechanisms, 2022
Spinocerebellar ataxia type 3 (SCA3) is an adult-onset, progressive ataxia. SCA3 presents with ataxia before any gross neuropathology. A feature of many cerebellar ataxias is aberrant cerebellar output that contributes to motor dysfunction.
Kristin Mayoral-Palarz, Andreia Neves-Carvalho, Sara Duarte-Silva, Daniela Monteiro-Fernandes, Patrícia Maciel, Kamran Khodakhah   +5 more
doaj   +1 more source

Noninvasive Focal Gene Delivery into the Cerebellum of Non‐Human Primates using Focused Ultrasound

Advanced Science, EarlyView.
Focal and non‐invasive viral vector delivery in non‐human primates remains a major challenge in translational neuroscience. Low‐intensity focused ultrasound was used to transiently open the blood–brain barrier and enable targeted gene delivery to the cerebellum.
Noelia Esteban‐García, José A. Pineda‐Pardo, Inés Trigo‐Damas, Marta Gutiérrez, Marta Castillo‐Ortiz, Megan Carrillo, Alejandro Reinares‐Sebastian, Víctor Medina‐Chavarrías, Itay Rachmilevitch, Masahiko Takada, José A. Obeso, Javier Blesa   +11 more
wiley   +1 more source

Clinical and Physiological Significance of F-Wave in Spinocerebellar Ataxia Type 3

Frontiers in Neurology, 2020
Objective: To evaluate the characteristics of F-wave in spinocerebellar ataxia type 3 (SCA3) patients and preclinical carriers of SCA3 gene mutation (PreSCA3), and explore the relationship between disease severity and F-wave parameters and evaluate F ...
Qiong Cai, Qiong Cai, Wenxiao Xu, Wenxiao Xu, Songjie Liao, Songjie Liao, Yinxing Liang, Yinxing Liang, Chao Wu, Chao Wu, Xunhua Li, Xunhua Li   +11 more
doaj   +1 more source

Drosophila as a Model of Unconventional Translation in Spinocerebellar Ataxia Type 3

Cells, 2022
RNA toxicity contributes to diseases caused by anomalous nucleotide repeat expansions. Recent work demonstrated RNA-based toxicity from repeat-associated, non-AUG-initiated translation (RAN translation).
Sean L. Johnson, Matthew V. Prifti, Alyson Sujkowski, Kozeta Libohova, Jessica R. Blount, Luke Hong, Wei-Ling Tsou, Sokol V. Todi   +7 more
doaj   +1 more source

Cardiovascular Exercise Drives Neuroprotection in a Mouse Model of Spinocerebellar Ataxia 1 Via Rescue of Aberrant Splicing

Annals of Neurology, EarlyView.
Objective Spinocerebellar ataxia 1 (SCA1) is a fatal hereditary neurodegenerative disorder with no approved therapies, and gene‐targeting strategies have thus far failed in clinical trials. Exercise remains the only intervention shown to provide clinical benefit in patients with spinocerebellar ataxias (SCAs), yet the underlying mechanisms remain ...
Isabel Soto, Michael Bonomo, Brianna S. Nelthrope, Benjamin D. Carr, Emma Palmer, Mariana Sierra, Ilkim Erturk, David Peppercorn, Eleonor Cox, Tiare K. Vasconcellos, Henry L. Paulson, Hannah K. Shorrock, Sharan R. Srinivasan   +12 more
wiley   +1 more source

Molecular genetic characterization of ataxic movement disorders in mouse and human [PDF]

, 2009
Deletion at ITPR1 underlies a young onset autosomal recessive ataxia in mice and a late onset autosomal dominant ataxia (SCA15) in humans. Data presented show the utility of investigating spontaneous mouse mutations in understanding human disease ...
van de Leemput, J.C.H., van de Leemput, J C H   +1 more
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