Zobrazeno 1 - 10
of 212
pro vyhledávání: '"Raymond P Roos"'
Autor:
Yoshifumi Sonobe, Soojin Lee, Gopinath Krishnan, Yuanzheng Gu, Deborah Y Kwon, Fen-Biao Gao, Raymond P Roos, Paschalis Kratsios
Publikováno v:
eLife, Vol 12 (2023)
A hexanucleotide repeat expansion in C9ORF72 is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). A hallmark of ALS/FTD pathology is the presence of dipeptide repeat (DPR) proteins, produced from
Externí odkaz:
https://doaj.org/article/6bc688523ce84ba29c9ad618fffb3838
Publikováno v:
PLoS ONE, Vol 17, Iss 6, p e0256411 (2022)
A number of neurologic diseases associated with expanded nucleotide repeats, including an inherited form of amyotrophic lateral sclerosis, have an unconventional form of translation called repeat-associated non-AUG (RAN) translation. It has been spec
Externí odkaz:
https://doaj.org/article/d6fa9877712d48a4a070728a9c9742da
Publikováno v:
PLoS Pathogens, Vol 15, Iss 2, p e1007574 (2019)
TDP-43, an RNA-binding protein that is primarily nuclear and important in splicing and RNA metabolism, is mislocalized from the nucleus to the cytoplasm of neural cells in amyotrophic lateral sclerosis (ALS), and contributes to disease. We sought to
Externí odkaz:
https://doaj.org/article/68bdb64579c04bafac4557b6f9fae5c4
Autor:
Fen-Biao Gao, Evangelos Kiskinis, Jihad Aburas, Mark W. Kankel, Yuanzheng Gu, Tania F. Gendron, Yoshifumi Sonobe, Priota Islam, André Ex Brown, Raymond P. Roos, Paschalis Kratsios, Andrew C. Fleming, Gopinath Krishnan, Eleanor C. Warren, Ghanashyam D. Ghadge
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-17 (2021)
A hexanucleotide repeat expansion GGGGCC in the non-coding region of C9orf72 is the most common cause of inherited amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Toxic dipeptide repeats (DPRs) are synthesized from GGGGCC via r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd786bbdd341465cc73e0de3c49fe3cc
https://doaj.org/article/05cc015c8b3f412d9f643d4bb372f4aa
https://doaj.org/article/05cc015c8b3f412d9f643d4bb372f4aa
Autor:
Yoshifumi Sonobe, Soojin Lee, Gopinath Krishnan, Yuanzheng Gu, Deborah Y. Kwon, Fen-Biao Gao, Raymond P. Roos, Paschalis Kratsios
A hexanucleotide repeat expansion in the first intron of C9ORF72 is the most common monogenic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). A hallmark of ALS/FTD pathology is the presence of dipeptide repeat (DPR) pr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0e3f1f0135b761a1807c4ea922aa5822
https://doi.org/10.1101/2022.08.06.503063
https://doi.org/10.1101/2022.08.06.503063
Publikováno v:
International Journal of Molecular Sciences; Volume 23; Issue 18; Pages: 10564
Ribosome profiling and mass spectroscopy have identified canonical and noncanonical translation initiation codons (TICs) that are upstream of the main translation initiation site and used to translate oncogenic proteins. There have previously been co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57838ea1a34f416cfc3a4e6c90f80dac
https://doi.org/10.3390/ijms231810564
https://doi.org/10.3390/ijms231810564
A number of neurologic diseases, including a form of amyotrophic lateral sclerosis and others associated with expanded nucleotide repeats have an unconventional form of translation called repeat-associated non-AUG (RAN) translation. Repeat protein pr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::09ff872603a9b3e3874d83b5cb276534
https://doi.org/10.1101/2021.08.17.456657
https://doi.org/10.1101/2021.08.17.456657
Publikováno v:
PloS one. 17(6)
A number of neurologic diseases associated with expanded nucleotide repeats, including an inherited form of amyotrophic lateral sclerosis, have an unconventional form of translation called repeat-associated non-AUG (RAN) translation. It has been spec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6ceb69ce2bcf555c52d616389048d91
https://pubmed.ncbi.nlm.nih.gov/35648796
https://pubmed.ncbi.nlm.nih.gov/35648796
Publikováno v:
Neurobiology of Disease, Vol 121, Iss, Pp 131-137 (2019)
Mutations in Cu/Zn superoxide dismutase (SOD1) are the cause of ~20% of cases of familial ALS (FALS), which comprise ~10% of the overall total number of cases of ALS. Mutant (mt) SOD1 is thought to cause FALS through a gain and not loss in function,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55d9dbcaa690b1058b2facdeb2987fa7
https://doi.org/10.1016/j.nbd.2018.08.021
https://doi.org/10.1016/j.nbd.2018.08.021
Autor:
André Ex Brown, Yoshifumi Sonobe, Raymond P. Roos, Paschalis Kratsios, Tania F. Gendron, Priota Islam, Jihad Aburas
A hexanucleotide repeat expansion GGGGCC in the noncoding region of C9orf72 is the most common cause of inherited amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Potentially toxic dipeptide repeats (DPRs) are synthesized from t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::62d1629da35b624e8fee530673fb2a6d
https://doi.org/10.1101/2020.06.13.150029
https://doi.org/10.1101/2020.06.13.150029