Zobrazeno 1 - 8
of 8
pro vyhledávání: '"genetics [Fragile X Mental Retardation Protein]"'
Autor:
Georg Köhr, Dušica Briševac, Dan Du, Ralf Scholz, Mohammad Nael Elagabani, Hans-Christian Kornau
Publikováno v:
Journal of neurochemistry 157(3), 666-683 (2021). doi:10.1111/jnc.15230
Journal of Neurochemistry : official journal of the International Society for Neurochemistry
Journal of Neurochemistry : official journal of the International Society for Neurochemistry
Fragile X syndrome (FXS), the most common inherited cause of intellectual disability, results from silencing of the fragile X mental retardation gene 1 (FMR1). The analyses of FXS patients’ brain autopsies revealed an increased density of immature
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b7c2faee993ea2120f6f513675e9a3e
https://pubmed.ncbi.nlm.nih.gov/33125726
https://pubmed.ncbi.nlm.nih.gov/33125726
Autor:
Birgitt Schüle, Faria Zafar, C. Alejandra Morato Torres, Danuta Sastre, Zinah Wassouf, Tiago F. Outeiro
Publikováno v:
International Journal of Molecular Sciences, Vol 21, Iss 5724, p 5724 (2020)
International Journal of Molecular Sciences
International journal of molecular sciences 21(16), 5724-(2020). doi:10.3390/ijms21165724
International Journal of Molecular Sciences
International journal of molecular sciences 21(16), 5724-(2020). doi:10.3390/ijms21165724
Neurodevelopmental and late-onset neurodegenerative disorders present as separate entities that are clinically and neuropathologically quite distinct. However, recent evidence has highlighted surprising commonalities and converging features at the cl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25f0ba1a2f30242f9615920c495cd97d
https://doi.org/10.20944/preprints202007.0334.v1
https://doi.org/10.20944/preprints202007.0334.v1
Autor:
Carmelo Sgobio, Thomas Koeglsperger, Pan Gao, Felix Machleid, Thomas Arzberger, Kai Bötzel, Tasnim Chakroun, Jochen Herms, Mathias Höllerhage, Yi Tan, Jörg Tost, Elisabeth Findeis, Günter U. Höglinger, Qilin Tang
Publikováno v:
Acta neuropathologica 139(2), 319-345 (2020). doi:10.1007/s00401-019-02099-5
Parkinson's disease (PD) is the most common neurodegenerative movement disorder and is characterized by the progressive loss of dopaminergic (DA) neurons in the substantia nigra pars compacta (SNc) and the gradual appearance of α-synuclein (α-syn)-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e996d6de49f55b30ce9d8646c655e3f
Publikováno v:
The Cerebellum 15(5), 632-635 (2016). doi:10.1007/s12311-016-0777-x
Hyperintensities in the middle cerebellar peduncles (MCP), known as the MCP sign, and progressive late-onset ataxia constitute major characteristics of the fragile X tremor/ataxia syndrome (FXTAS). Here, we describe a 60-year-old male affected by ata
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8f8e0766a855c5caa21eeadc12c840a
https://doi.org/10.1007/s12311-016-0777-x
https://doi.org/10.1007/s12311-016-0777-x
Publikováno v:
Nucleic Acids Research
Nucleic acids research 39(16), 7308-7315 (2011). doi:10.1093/nar/gkr368
Nucleic acids research 39(16), 7308-7315 (2011). doi:10.1093/nar/gkr368
The CGG repeats are present in the 5'-untranslated region (5'-UTR) of the fragile X mental retardation gene FMR1 and are associated with two diseases: fragile X-associated tremor ataxia syndrome (FXTAS) and fragile X syndrome (FXS). FXTAS occurs when
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9686894268d7ce527639d90216fd281
https://doi.org/10.1093/nar/gkr368
https://doi.org/10.1093/nar/gkr368
Autor:
Stepniak, Beata, Kästner, Anne, Poggi, Giulia, Mitjans, Marina, Begemann, Martin, Hartmann, Annette, Van der Auwera, Sandra, Sananbenesi, Farahnaz, Krueger-Burg, Dilja, Matuszko, Gabriela, Brosi, Cornelia, Homuth, Georg, Völzke, Henry, Benseler, Fritz, Bagni, Claudia, Fischer, Utz, Dityatev, Alexander, Grabe, Hans-Jörgen, Rujescu, Dan, Fischer, Andre, Ehrenreich, Hannelore
Publikováno v:
EMBO molecular medicine
EMBO molecular medicine 7(12), 1565-1579 (2015). doi:10.15252/emmm.201505696
EMBO Molecular Medicine
EMBO molecular medicine 7(12), 1565-1579 (2015). doi:10.15252/emmm.201505696
EMBO Molecular Medicine
Fragile X syndrome (FXS) is mostly caused by a CGG triplet expansion in the fragile X mental retardation 1 gene (FMR1). Up to 60% of affected males fulfill criteria for autism spectrum disorder (ASD), making FXS the most frequent monogenetic cause of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::71b324e438d72265352eec6e811e7c58
https://doi.org/10.15252/emmm.201505696
https://doi.org/10.15252/emmm.201505696
Publikováno v:
Summers, S M; Cogswell, J; Goodrich, J E; Mu, Y; Nguyen, D V; Brass, S D; et al.(2014). Prevalence of restless legs syndrome and sleep quality in carriers of the fragile X premutation.. Clinical genetics, 86(2), 181-184. UC Irvine: Institute for Clinical and Translational Science. Retrieved from: http://www.escholarship.org/uc/item/5gd7s0gh
This study examined the relationship between the fragile X premutation and restless legs syndrome (RLS). Demographic, medical history and survey responses related to sleep were collected from 213 participants (127 carriers and 86 age matched controls
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______325::3544c6d4b0af1a5093e1ef7f31688df6
http://www.escholarship.org/uc/item/5gd7s0gh
http://www.escholarship.org/uc/item/5gd7s0gh
Autor:
Phillip A. Sharp, Bridget M. Dolan, Kelly A. Foster, Dieter Edbauer, Chi-Fong Wang, Tomoko Tada, Morgan Sheng, Joel R. Neilson, Matthew N. Batterton, Daniel P. Seeburg
Publikováno v:
Neuron 65(3), 373-384 (2010). doi:10.1016/j.neuron.2010.01.005
SummaryMicroRNAs (miRNAs) are noncoding RNAs that suppress translation of specific mRNAs. The miRNA machinery interacts with fragile X mental retardation protein (FMRP), which functions as translational repressor. We show that miR-125b and miR-132, a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c96d59e2d33be7585acdadb53374e835