Results 41 to 50 of about 27,164 (223)

Autophagy in Spinocerebellar Ataxia Type 3: From Pathogenesis to Therapeutics

International Journal of Molecular Sciences, 2023
Machado–Joseph disease (MJD) or spinocerebellar ataxia 3 (SCA3) is a rare, inherited, monogenic, neurodegenerative disease, and the most common SCA worldwide. MJD/SCA3 causative mutation is an abnormal expansion of the triplet CAG at exon 10 within the ATXN3 gene.
Paulino, Rodrigo, Nóbrega, Clévio
openaire   +3 more sources

Disease-associated oligodendrocyte signatures are spatiotemporally dysregulated in spinocerebellar ataxia type 3

Frontiers in Neuroscience, 2023
Spinocerebellar ataxia type 3 (SCA3) is a neurodegenerative disease caused by a CAG repeat expansion in the ATXN3 gene. Though the ATXN3 protein is expressed ubiquitously throughout the CNS, regional pathology in SCA3 patients is observed within select ...
Kristen H. Schuster, Danielle M. DiFranco, Alexandra F. Putka, Alexandra F. Putka, Juan P. Mato, Juan P. Mato, Sabrina I. Jarrah, Nicholas R. Stec, Vikram O. Sundararajan, Hayley S. McLoughlin   +9 more
doaj   +1 more source

Continuous visual stimulus tracking to quantify eye motility in spinocerebellar ataxia type 3. [PDF]

Front Neurol
Eye-tracking parameters during continuous visual stimulus tracking in healthy controls and spinocerebellar ataxia type 3 patients.
de Boer MJ, Wasmann RA, Pott JWR, Cornelissen FW, Jansonius NM.   +4 more
europepmc   +2 more sources

Clinical and genetic analysis of 29 Brazilian patients with Huntington’s disease-like phenotype [PDF]

, 2011
Huntington’s disease (HD) is a neurodegenerative disorder characterized by chorea, behavioral disturbances and dementia, caused by a pathological expansion of the CAG trinucleotide in the HTT gene. Several patients have been recognized with the typical
Lopes-Cendes, Iscia, Odile Russaouen, Cécile Cazeneuve, Cazeneuve, Cécile, Walker R.H., Russaouen O., Bader B., Guilherme Riccioppo Rodrigues, Brice A., Russaouen, Odile, Tumas, Vitor, Wilson Marques Jr., Rodrigues G.R., Iscia Lopes-Cendes, Danek, Adrian, Adrian Danek, MARQUES JR., Wilson, Brice, Alexis, Marques Jr. W., Marques, Wilson, Vitor Tumas, Walker, Ruth H., Bader, Benedikt, Benedikt Bader, Danek A., Cazeneuve C., Ruth H. Walker, Riccioppo Rodrigues, Guilherme, RODRIGUES, Guilherme Riccioppo, Alexis Brice, Tumas V., Lopes-Cendes I.   +31 more
core   +1 more source

Cerebellar lncRNA Expression Profile Analysis of SCA3/MJD Mice

International Journal of Genomics, 2018
Spinocerebellar ataxia type 3 (SCA3) or Machado-Joseph disease (MJD) is the most common autosomal dominant spinocerebellar ataxia in China with highly clinical heterogeneity, such as progressive cerebellar ataxia, dysarthria, pyramidal signs, external ...
Zhe Long, Tianjiao Li, Zhao Chen, Yun Peng, Chunrong Wang, Xiaocan Hou, Hongyu Yuan, Puzhi Wang, Yue Xie, Lang He, Xin Zhou, Huirong Peng, Rong Qiu, Kun Xia, Beisha Tang, Hong Jiang   +15 more
doaj   +1 more source

Clinical Findings of Type 3 Spinocerebellar Ataxia

São Paulo Medical Journal, 2021
Background: Spinocerebellar ataxias (SCAs) are a genetically heterogeneous group of progressive autosomal disorders of dominant inheritance with a gradual degeneration of the cerebellum and related pathways [1]. This leads to a movement disorder, loss of balance and coordination, accompanied by slurred speech [2].
Juliano Henrique Rocha Filho, Beatriz Brasil Braga, Kristine Leão Alarcão, Maria Teresa Aires Cabral Dias   +3 more
openaire   +1 more source

Molecular mechanism of Spinocerebellar Ataxia type 6: glutamine repeat disorder, channelopathy and transcriptional dysregulation. The multifaceted aspects of a single mutation.

, 2015
Spinocerebellar Ataxia type 6 (SCA6) is an autosomal dominant neurodegenerative disease characterized by late onset, slowly progressive, mostly pure cerebellar ataxia. It is one of three allelic disorders associated to CACNA1A gene, coding for the Alpha1
Veneziano, L, Frontali, M, Mantuano, E, Liana eVeneziano, Elide Mantuano, Liana Veneziano, Giunti, P, Elide eMantuano, Marina Frontali, Paola eGiunti, Marina eFrontali, Paola Giunti   +11 more
core   +1 more source

The ataxia (axJ) mutation causes abnormal GABAA receptor turnover in mice [PDF]

, 2009
Ataxia represents a pathological coordination failure that often involves functional disturbances in cerebellar circuits. Purkinje cells (PCs) characterize the only output neurons of the cerebellar cortex and critically participate in regulating motor ...
Kneussel Matthias, Loebrich, S, Sven Loebrich, Hevers, Wulf, Michaela Schweizer, Eilers, Jens, Đikić, Ivan, Corinna Lappe-Siefke, Wilson, Scott M., Scott M Wilson, Waidmann Oliver B., Fehr Susanne, Schweizer, M, Kneussel, Matthias, Oliver B Waidmann, Fritschy Jean-Marc, Jean-Marc Fritschy, Wilson, S M, Schweizer Michaela, Jens Eilers, Eilers, J, Fritschy, Jean-Marc, Ivan Dikic, Fritschy, J M, Dikic, I, Schweizer, Michaela, Eilers Jens, Susanne Fehr, Waidmann, O B, Wilson Scott M., Fehr, Susanne, Matthias Kneussel, Fehr, S, Lappe-Siefke, Corinna, Waidmann, Oliver, Dikic Ivan, Loebrich Sven, Hevers Wulf, Lappe-Siefke, C, Hevers, W, Kneussel, M, Löbrich, Sven, Wulf Hevers, Lappe-Siefke Corinna   +43 more
core   +1 more source

Blood transcriptome sequencing identifies biomarkers able to track disease stages in spinocerebellar ataxia type 3 [PDF]

, 2023
Transcriptional dysregulation has been described in spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD), an autosomal dominant ataxia caused by a polyglutamine expansion in the ataxin-3 protein.
Faber, Jennifer, Vieira Melo, Ana Rosa, Santana, Magda M, Raposo, Mafalda, Giunti, Paola, Kay, Teresa, European Spinocerebellar ataxia type 3/Machado-Joseph disease In, Klockgether, Thomas, de Vries, Jeroen J, Pires, Paula, Pereira de Almeida, Luis, Lima, Manuela, Infante, Jon, Garcia-Moreno, Hector, Admard, Jakob, Schöls, Ludger, Riess, Olaf, Hübener-Schmid, Jeannette, van de Warrenburg, Bart P, Ferreira, Ana F, Vasconcelos, João, Casadei, Nicolas   +21 more
core  

Derivation of spinocerebellar ataxia type 3 human embryonic stem cell line UMICHe001-A/UM134-1

Stem Cell Research, 2022
The most common autosomal dominant ataxia worldwide, spinocerebellar ataxia type 3 (SCA3) is a fatal, progressive neurodegenerative disorder caused by a CAG trinucleotide repeat expansion in the ATXN3 gene.
Lauren R. Moore, Laura Keller, Henry L. Paulson, Gary D. Smith   +3 more
doaj   +1 more source