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https://www.readbyqxmd.com/read/29444500/generation-of-induced-pluripotent-stem-cell-line-zzui004-a-from-urine-sample-of-a-patient-with-spinocerebellar-ataxia-type-3
#1
Yanlin Wang, Changhe Shi, Zhilei Wang, Huifang Sun, Zhihua Yang, Fan Zhang, Yutao Liu, Han Liu, Chenyang Jiang, Shoutao Zhang, Yuming Xu, Xuejun Wen
Spinocerebellar ataxia type 3 (SCA3) is a dominantly inherited neurodegenerative disease caused by a CAG repeat expansion in the region of the ATXN3 gene. The main feature of SCA3 is progressive ataxia, which affects balance, gait, and speech. Urine cells (UCs) of a SCA3 patient were successfully translated to induced pluripotent stem cells (iPSCs) by using the Sendai virus delivery system. ZZUi004-A cell line may provide a robust platform for further study of SCA3 pathogenesis as well as drug testing and gene therapy research...
January 31, 2018: Stem Cell Research
https://www.readbyqxmd.com/read/29427114/pharmacological-therapies-for-machado-joseph-disease
#2
Sara Duarte-Silva, Patrícia Maciel
Machado-Joseph disease (MJD), also known as Spinocerebellar Ataxia type 3 (SCA3), is the most common autosomal dominant ataxia worldwide. MJD integrates a large group of disorders known as polyglutamine diseases (polyQ). To date, no effective treatment exists for MJD and other polyQ diseases. Nevertheless, researchers are making efforts to find treatment possibilities that modify the disease course or alleviate disease symptoms. Since neuroimaging studies in mutation carrying individuals suggest that in nervous system dysfunction begins many years before the onset of any detectable symptoms, the development of therapeutic interventions becomes of great importance, not only to slow progression of manifest disease but also to delay, or ideally prevent, its onset...
2018: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29427113/molecular-mechanisms-and-cellular-pathways-implicated-in-machado-joseph-disease-pathogenesis
#3
Clévio Nóbrega, Ana Teresa Simões, Joana Duarte-Neves, Sónia Duarte, Ana Vasconcelos-Ferreira, Janete Cunha-Santos, Dina Pereira, Magda Santana, Cláudia Cavadas, Luís Pereira de Almeida
Machado-Joseph disease (MJD) is a dominantly inherited disorder originally described in people of Portuguese descent, and associated with the expansion of a CAG tract in the coding region of the causative gene MJD1/ATX3. The CAG repeats range from 10 to 51 in the normal population and from 55 to 87 in SCA3/MJD patients. MJD1 encodes ataxin-3, a protein whose physiological function has been linked to ubiquitin-mediated proteolysis. Despite the identification of the causative mutation, the pathogenic process leading to the neurodegeneration observed in the disease is not yet completely understood...
2018: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29427112/planning-future-clinical-trials-for-machado-joseph-disease
#4
Jonas Alex Morales Saute, Laura Bannach Jardim
Spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) is an autosomal dominant multiple neurological systems degenerative disorder caused by a CAG repeat expansion at ATXN3 gene. Only a few treatments were evaluated in randomized clinical trials (RCT) in SCA3/MJD patients, with a lack of evidence for both disease-modifying and symptomatic therapies. The present chapter discuss in detail major methodological issues for planning future RCT for SCA3/MJD. There are several potential therapies for SCA3/MJD with encouraging preclinical results...
2018: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29427111/towards-the-identification-of-molecular-biomarkers-of-spinocerebellar-ataxia-type-3-sca3-machado-joseph-disease-mjd
#5
Manuela Lima, Mafalda Raposo
Whereas spinocerebellar ataxia type 3 (SCA3)/Machado-Joseph disease (MJD) remains an untreatable disorder, disease-modifying compounds have begun being tested in the context of clinical trials; their success is dependent on the sensitivity of the methods used to measure subtle therapeutic benefits. Thus, efforts are being made to propose a battery of potential outcome measures, including molecular biomarkers (MBs), which remain to be identified; MBs are particularly pertinent if SCA3 trials are expected to enroll preataxic subjects...
2018: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29422848/mri-signal-abnormalities-of-the-inferior-olivary-nuclei-in-spinocerebellar-ataxia-type-2
#6
Fumihito Yoshii, Hitoshi Tomiyasu, Ryo Watanabe, Masafuchi Ryo
Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant spinocerebellar degeneration, associated with extended repeats of the trinucleotide CAG in the ATXN2 gene on the long arm of chromosome 12. Magnetic resonance imaging (MRI) of SCA2 showed significant atrophies of the brainstem, middle cerebellar peduncles, and cerebellum. We report two genetically proven SCA2 patients who showed hypertrophy of the inferior olivary nuclei on proton density- and T2-weighted MRI. This pattern has never been reported in patients with SCA1, SCA3, or SCA6, and may make it possible to differentiate SCA2 from other hereditary spinocerebellar ataxias...
September 2017: Case Reports in Neurology
https://www.readbyqxmd.com/read/29318784/divalproex-sodium-modulates-nuclear-localization-of-ataxin-3-and-prevents-cellular-toxicity-caused-by-expanded-ataxin-3
#7
Zi-Jian Wang, Aoife Hanet, Daniel Weishäupl, Inês M Martins, Anna S Sowa, Olaf Riess, Thorsten Schmidt
BACKGROUND & AIMS: Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease (MJD), is an autosomal dominantly inherited neurodegenerative disorder and the most common form of SCA worldwide. It is caused by the expansion of a polyglutamine (polyQ) tract in the ataxin-3 protein. Nuclear localization of the affected protein is a key event in the pathology of SCA3 via affecting nuclear organization, transcriptional dysfunction, and seeding aggregations, finally causing neurodegeneration and cell death...
January 9, 2018: CNS Neuroscience & Therapeutics
https://www.readbyqxmd.com/read/29279305/friedreich-and-dominant-ataxias-quantitative-differences-in-cerebellar-dysfunction-measurements
#8
Audrey Tanguy Melac, Caterina Mariotti, Antoine Filipovic Pierucci, Paola Giunti, Javier Arpa, Sylvia Boesch, Thomas Klopstock, Jennifer Müller Vom Hagen, Thomas Klockgether, Katrin Bürk, Jörg B Schulz, Kathrin Reetz, Massimo Pandolfo, Alexandra Durr, Sophie Tezenas du Montcel
BACKGROUND: Sensitive outcome measures for clinical trials on cerebellar ataxias are lacking. Most cerebellar ataxias progress very slowly and quantitative measurements are required to evaluate cerebellar dysfunction. METHODS: We evaluated two scales for rating cerebellar ataxias: the Composite Cerebellar Functional Severity (CCFS) Scale and Scale for the Assessment and Rating of Ataxia (SARA), in patients with spinocerebellar ataxia (SCA) and controls. We evaluated these scales for different diseases and investigated the factors governing the scores obtained...
December 26, 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/29251109/human-olfactory-ensheathing-cell-transplantation-improves-motor-function-in-a-mouse-model-of-type-3-spinocerebellar-ataxia
#9
Jeanne Hsieh, Jen-Wei Liu, Horng-Jyh Harn, Kuo-Wei Hsueh, Karthyayani Rajamani, Yu-Chen Deng, Chih-Min Chia, Woei-Cheang Shyu, Shinn-Zong Lin, Tzyy-Wen Chiou
Spinocerebellar ataxia (SCA) is a progressive neurodegenerative disease that affects the cerebellum and spinal cord. Among the 40 types of SCA, SCA type 3 (SCA3), also referred to as Machado-Joseph disease, is the most common. In the present study, we investigated the therapeutic effects of intracranial transplantation of human olfactory ensheathing cells (hOECs) in the ATXN3-84Q mouse model of SCA3. Motor function begins to decline in ATXN3-84Q transgenic mice at approximately 13 weeks of age. ATXN3-84Q mice that received intracranial hOEC transplantation into the dorsal raphe nucleus of the brain exhibited significant improvements in motor function, as measured by the rotarod performance test and footprint pattern analysis...
October 2017: Cell Transplantation
https://www.readbyqxmd.com/read/29247688/caffeic-acid-and-resveratrol-ameliorate-cellular-damage-in-cell-and-drosophila-models-of-spinocerebellar-ataxia-type-3-through-upregulation-of-nrf2-pathway
#10
Yu-Ling Wu, Jui-Chih Chang, Wei-Yong Lin, Chien-Chun Li, Mingli Hsieh, Haw-Wen Chen, Tsu-Shing Wang, Wen-Tzu Wu, Chin-San Liu, Kai-Li Liu
Polyglutamine (polyQ)-expanded mutant ataxin-3 protein, which is prone to misfolding and aggregation, leads to cerebellar neurotoxicity in spinocerebellar ataxia type 3 (SCA3), an inherited PolyQ neurodegenerative disease. Although the exact mechanism is unknown, the pathogenic effects of mutant ataxin-3 are associated with dysregulation of transcription, protein degradation, mitochondrial function, apoptosis, and antioxidant potency. In the present study we explored the protective role and possible mechanism of caffeic acid (CA) and resveratrol (Res) in cells and Drosophila expressing mutant ataxin-3...
December 13, 2017: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/29241561/arabidopsis-mterf6-is-required-for-leaf-patterning
#11
Pedro Robles, Eva Núñez-Delegido, Almudena Ferrández-Ayela, Raquel Sarmiento-Mañús, José Luis Micol, Víctor Quesada
To enhance our understanding of the roles of mitochondrial transcription termination factors (mTERFs) in plants, we have taken a reverse genetic approach in Arabidopsis thaliana. One of the mutants isolated carried a novel allele of the mTERF6 gene, which we named mterf6-5. mTERF6 is a chloroplast and mitochondrial localised protein required for the maturation of chloroplast isoleucine tRNA. The mterf6-5 plants are pale and exhibit markedly reduced growth, and altered leaf and chloroplast development. Our qRT-PCR analyses revealed mis-expression of several plastid, mitochondrial and nuclear genes in mterf6-5 plants...
January 2018: Plant Science: An International Journal of Experimental Plant Biology
https://www.readbyqxmd.com/read/29229556/experimental-and-clinical-strategies-for-treating-spinocerebellar-ataxia-type-3
#12
REVIEW
Zijian Wang
Spinocerebellar ataxia type 3 (SCA3), or Machado-Joseph disease (MJD), is an autosomal dominant neurodegenerative disorder caused by the expansion of a polyglutamine (polyQ) tract in the ataxin-3 protein. To date, there is no effective therapy available to prevent progression of this disease. However, clinical strategies for alleviating various symptoms are imperative to promote a better quality of life for SCA3/MJD patients. Furthermore, experimental therapeutic strategies, including gene silencing or mutant protein clearance, mutant polyQ protein modification, stabilizing the native protein conformation, rescue of cellular dysfunction and neuromodulation to slow the progression of SCA3/MJD, have been developed...
December 8, 2017: Neuroscience
https://www.readbyqxmd.com/read/29214039/clinical-and-genetic-analysis-of-spinocerebellar-ataxia-type-7-sca7-in-zambian-families
#13
Masharip Atadzhanov, Danielle C Smith, Mwila H Mwaba, Omar K Siddiqi, Alan Bryer, L Jacquie Greenberg
Background: To date, 43 types of Spinocerebellar Ataxias (SCAs) have been identified. A subset of the SCAs are caused by the pathogenic expansion of a CAG repeat tract within the corresponding gene. Ethnic and geographic differences are evident in the prevalence of the autosomal dominant SCAs. Few descriptions of the clinical phenotype and molecular genetics of the SCAs are available from the African continent. Established studies mostly concern the South African populations, where there is a high frequency of SCA1, SCA2 and SCA7...
2017: Cerebellum & Ataxias
https://www.readbyqxmd.com/read/29111377/mass-spectrometry-analyses-of-normal-and-polyglutamine-expanded-ataxin-3-reveal-novel-interaction-partners-involved-in-mitochondrial-function
#14
Line V Kristensen, Felix S Oppermann, Matthias J Rauen, Karina Fog, Thorsten Schmidt, Jana Schmidt, Tina Harmuth, Rasmus Hartmann-Petersen, Kenneth Thirstrup
Deubiquitinating enzymes (DUBs) play important roles in a variety of cellular processes, including regulation of protein homeostasis. The DUB ataxin-3 is an enzyme implicated in protein quality control mechanisms. In the neurodegenerative disease spinocerebellar ataxia type 3 (SCA3), ataxin-3 contains an expanded polyglutamine (polyQ) stretch that leads to aggregation of the protein and neuronal dysfunction. Increasing the understanding of ataxin-3 protein interaction partners could help to elucidate disease mechanisms...
October 27, 2017: Neurochemistry International
https://www.readbyqxmd.com/read/29089256/dystonia-and-ataxia-progression-in-spinocerebellar-ataxias
#15
Pei-Hsin Kuo, Shi-Rui Gan, Jie Wang, Raymond Y Lo, Karla P Figueroa, Darya Tomishon, Stefan M Pulst, Susan Perlman, George Wilmot, Christopher M Gomez, Jeremy D Schmahmann, Henry Paulson, Vikram G Shakkottai, Sarah H Ying, Theresa Zesiewicz, Khalaf Bushara, Michael D Geschwind, Guangbin Xia, S H Subramony, Tetsuo Ashizawa, Sheng-Han Kuo
BACKGROUND: Dystonia is a common feature in spinocerebellar ataxias (SCAs). Whether the presence of dystonia is associated with different rate of ataxia progression is not known. OBJECTIVES: To study clinical characteristics and ataxia progression in SCAs with and without dystonia. METHODS: We studied 334 participants with SCA 1, 2, 3 and 6 from the Clinical Research Consortium for Spinocerebellar Ataxias (CRC-SCA) and compared the clinical characteristics of SCAs with and without dystonia...
October 23, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/29061563/rescue-of-atxn3-neuronal-toxicity-in-caenorhabditiselegans-by-chemical-modification-of-endoplasmic-reticulum-stress
#16
Yasmin Fardghassemi, Arnaud Tauffenberger, Sarah Gosselin, J Alex Parker
Polyglutamine expansion diseases are a group of hereditary neurodegenerative disorders that develop when a CAG repeat in the causative genes is unstably expanded above a certain threshold. The expansion of trinucleotide CAG repeats causes hereditary adult-onset neurodegenerative disorders, such as Huntington's disease, dentatorubral-pallidoluysian atrophy, spinobulbar muscular atrophy and multiple forms of spinocerebellar ataxia (SCA). The most common dominantly inherited SCA is the type 3 (SCA3), also known as Machado-Joseph disease (MJD), which is an autosomal dominant, progressive neurological disorder...
December 19, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/29057148/postural-tremor-and-ataxia-progression-in-spinocerebellar-ataxias
#17
Shi-Rui Gan, Jie Wang, Karla P Figueroa, Stefan M Pulst, Darya Tomishon, Danielle Lee, Susan Perlman, George Wilmot, Christopher M Gomez, Jeremy Schmahmann, Henry Paulson, Vikram G Shakkottai, Sarah H Ying, Theresa Zesiewicz, Khalaf Bushara, Michael D Geschwind, Guangbin Xia, S H Subramony, Tetsuo Ashizawa, Sheng-Han Kuo
BACKGROUND: Postural tremor can sometimes occur in spinocerebellar ataxias (SCAs). However, the prevalence and clinical characteristics of postural tremor in SCAs are poorly understood, and whether SCA patients with postural tremor have different ataxia progression is not known. METHODS: We studied postural tremor in 315 patients with SCA1, 2, 3, and 6 recruited from the Clinical Research Consortium for Spinocerebellar Ataxias (CRC-SCA), which consists of 12 participating centers in the United States, and we evaluated ataxia progression in these patients from January 2010 to August 2012...
2017: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/28979235/peripheral-oxidative-stress-biomarkers-in-spinocerebellar-ataxia-type-3-machado-joseph-disease
#18
Adriano M de Assis, Jonas Alex Morales Saute, Aline Longoni, Clarissa Branco Haas, Vitor Rocco Torrez, Andressa Wigner Brochier, Gabriele Nunes Souza, Gabriel Vasata Furtado, Tailise Conte Gheno, Aline Russo, Thais Lampert Monte, Raphael Machado Castilhos, Artur Schumacher-Schuh, Rui D'Avila, Karina Carvalho Donis, Carlos Roberto de Mello Rieder, Diogo Onofre Souza, Suzi Camey, Vanessa Bielefeldt Leotti, Laura Bannach Jardim, Luis Valmor Portela
OBJECTIVES: Spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) is a polyglutamine disorder with no current disease-modifying treatment. Conformational changes in mutant ataxin-3 trigger different pathogenic cascades, including reactive oxygen species (ROS) generation; however, the clinical relevance of oxidative stress elements as peripheral biomarkers of SCA3/MJD remains unknown. We aimed to evaluate ROS production and antioxidant defense capacity in symptomatic and presymptomatic SCA3/MJD individuals and correlate these markers with clinical and molecular data with the goal of assessing their properties as disease biomarkers...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28970564/influence-of-mismatched-and-bulged-nucleotides-on-snp-preferential-rnase-h-cleavage-of-rna-antisense-gapmer-heteroduplexes
#19
Dorota Magner, Ewa Biala, Jolanta Lisowiec-Wachnicka, Ryszard Kierzek
This study focused on determining design rules for gapmer-type antisense oligonucleotides (ASOs), that can differentiate cleavability of two SNP variants of RNA in the presence of ribonuclease H based on the mismatch type and position in the heteroduplex. We describe the influence of structural motifs formed by several arrangements of multiple mismatches (various types of mismatches and their position within the ASO/target RNA duplex) on RNase H cleavage selectivity of five different SNP types. The targets were mRNA fragments of APP, SCA3, SNCA and SOD1 genes, carrying C-to-G, G-to-C, G-to-A, A-to-G and C-to-U substitutions...
October 2, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28918024/antisense-oligonucleotide-mediated-removal-of-the-polyglutamine-repeat-in-spinocerebellar-ataxia-type-3-mice
#20
Lodewijk J A Toonen, Frank Rigo, Haico van Attikum, Willeke M C van Roon-Mom
Spinocerebellar ataxia type 3 (SCA3) is a currently incurable neurodegenerative disorder caused by a CAG triplet expansion in exon 10 of the ATXN3 gene. The resultant expanded polyglutamine stretch in the mutant ataxin-3 protein causes a gain of toxic function, which eventually leads to neurodegeneration. One important function of ataxin-3 is its involvement in the proteasomal protein degradation pathway, and long-term downregulation of the protein may therefore not be desirable. In the current study, we made use of antisense oligonucleotides to mask predicted exonic splicing signals, resulting in exon 10 skipping from ATXN3 pre-mRNA...
September 15, 2017: Molecular Therapy. Nucleic Acids
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