Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Yasmin Fardghassemi"'
Publikováno v:
Disease Models & Mechanisms, Vol 10, Iss 12, Pp 1465-1480 (2017)
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
Externí odkaz:
https://doaj.org/article/29fd4f1f360644e3883b87339472b668
Publikováno v:
Neurotherapeutics
Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease (MJD), is a polyglutamine expansion disease arising from a trinucleotide CAG repeat expansion in exon 10 of the gene ATXN3. There are no effective pharmacological treatments f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d11987212b59ba23f960a05a832b4d5
https://doi.org/10.1007/s13311-020-00993-5
https://doi.org/10.1007/s13311-020-00993-5
Autor:
J. Alex Parker, Yasmin Fardghassemi
Publikováno v:
Experimental neurology. 337
Machado-Joseph disease (MJD), also known as spinocerebellar ataxia type 3 (SCA3), is the most common form of dominantly inherited ataxia worldwide. This disease is caused by an expanded CAG repeat in the coding region of ATXN3. Due to our incomplete
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e27071659fbf58d512c7868e55fa06cd
https://pubmed.ncbi.nlm.nih.gov/33290777
https://pubmed.ncbi.nlm.nih.gov/33290777
Publikováno v:
Experimental Neurology. 293:101-114
Autism spectrum disorder (ASD) is the most common neurodevelopmental disorder with a constantly increasing prevalence. Model organisms may be tools to identify underlying cellular and molecular mechanisms, as well as aid the discovery and development
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43d471fde25df244c6e799cb823ab8c3
https://doi.org/10.1016/j.expneurol.2017.03.022
https://doi.org/10.1016/j.expneurol.2017.03.022
Publikováno v:
Disease Models & Mechanisms.
Background: Polyglutamine expansion diseases are a group of hereditary neurodegenerative disorders that develop when a CAG repeat in the causative genes are unstably expanded above a certain threshold. The expansion of trinucleotide CAG repeats cause
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::309ec504ace9b5b6144b031275d993eb
https://doi.org/10.1242/dmm.029736
https://doi.org/10.1242/dmm.029736
Autor:
Pierre Drapeau, Carl Julien, Alaura Androschuk, Clement Wong, Joel C. Strautman, Francois V. Bolduc, Cory Rosenfelt, Alexandra Lissouba, J. Alex Parker, Yasmin Fardghassemi, Surya Madabattula, Andrew M. Bysice, Guy A. Rouleau, Julia O'Sullivan
Publikováno v:
Human molecular genetics. 25(6)
Hereditary spastic paraplegias (HSPs) are a group of neurodegenerative diseases causing progressive gait dysfunction. Over 50 genes have now been associated with HSP. Despite the recent explosion in genetic knowledge, HSP remains without pharmacologi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84db80e117a0113618d4f6987be94ca0
https://pubmed.ncbi.nlm.nih.gov/26744324
https://pubmed.ncbi.nlm.nih.gov/26744324