Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Emma R, Perri"'
Autor:
Sonam Parakh, Sina Shadfar, Emma R. Perri, Audrey M.G. Ragagnin, Claudia V. Piattoni, Mariela B. Fogolín, Kristy C. Yuan, Hamideh Shahheydari, Emily K. Don, Collen J. Thomas, Yuning Hong, Marcelo A. Comini, Angela S. Laird, Damian M. Spencer, Julie D. Atkin
Publikováno v:
iScience, Vol 23, Iss 5, Pp - (2020)
Summary: Pathological forms of TAR DNA-binding protein 43 (TDP-43) are present in almost all cases of amyotrophic lateral sclerosis (ALS), and 20% of familial ALS cases are due to mutations in superoxide dismutase 1 (SOD1). Redox regulation is critic
Externí odkaz:
https://doaj.org/article/5d7c8645d1a843979d2e77a8fb26be55
Autor:
Hamideh Shahheydari, Audrey Ragagnin, Adam K. Walker, Reka P. Toth, Marta Vidal, Cyril J. Jagaraj, Emma R. Perri, Anna Konopka, Jessica M. Sultana, Julie D. Atkin
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 10 (2017)
Protein homeostasis, or proteostasis, has an important regulatory role in cellular function. Protein quality control mechanisms, including protein folding and protein degradation processes, have a crucial function in post-mitotic neurons. Cellular pr
Externí odkaz:
https://doaj.org/article/320a193026284930bbd3a47a8875e0e9
Autor:
Alison Cheong, Sonam Parakh, Sina Shadfar, Prachi Mehta, Shu Yang, Anand K. Deva, Anna Konopka, Natalie Grima, Adam K. Walker, Cyril J. Jagaraj, Emma R. Perri, Suzanne M. Cutts, Tina Robinson, Garth A. Nicholson, Hamideh Shahheydari, Reka P. Toth, Shafi Jamali, Julie D. Atkin, Audrey Ragagnin, Ian P. Blair, Toby D. M. Bell, Zuzana Horejsi, Marta Vidal, Ivan Khizhnyak, Donna R. Whelan, Jasmin Galper
Publikováno v:
Molecular Neurodegeneration, Vol 15, Iss 1, Pp 1-28 (2020)
Molecular Neurodegeneration
Molecular Neurodegeneration
Background Pathological forms of TAR DNA-binding protein 43 (TDP-43) are present in motor neurons of almost all amyotrophic lateral sclerosis (ALS) patients, and mutations in TDP-43 are also present in ALS. Loss and gain of TDP-43 functions are impli
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1571ac2e421081930780f50d6d1b402b
http://link.springer.com/article/10.1186/s13024-020-00386-4
http://link.springer.com/article/10.1186/s13024-020-00386-4
Autor:
Emma R. Perri, Jessica M. Sultana, Sonam Parakh, Colleen J. Thomas, Damian M. Spencer, Anna Konopka, Marta Vidal, Julie D. Atkin, Sina Shadfar, Prachi Mehta
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-14 (2021)
Scientific Reports
Scientific Reports
Mutations in Fused in Sarcoma (FUS) are present in familial and sporadic cases of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). FUS is localised in the nucleus where it has important functions in DNA repair. However, in ALS/F
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c0166dd5d1cb15f9bcd75a972a4bcce
https://doi.org/10.1038/s41598-021-96181-2
https://doi.org/10.1038/s41598-021-96181-2
Autor:
Reka P. Toth, Marta Vidal, Shu Yang, Ian P. Blair, Cyril J. Jagaraj, Damian M. Spencer, Anna Konopka, Emma R. Perri, Colleen J. Thomas, Adam K. Walker, Audrey Ragagnin, Sonam Parakh, Jasmin Galper, Julie D. Atkin
Publikováno v:
Human Molecular Genetics. 27:1311-1331
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder and mutations in superoxide dismutase 1 (SOD1) account for 20% of familial ALS cases. The aetiology of ALS remains unclear, but protein misfolding, endoplasmic reticulum (ER) s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e1034c6c1b6fe130048b1c14f52355e
https://doi.org/10.1093/hmg/ddy041
https://doi.org/10.1093/hmg/ddy041
Autor:
Yi Ma, Sonam Parakh, Emma R. Perri, Adam K. Walker, Marta Vidal, Prachi Mehta, Julie D. Atkin
Publikováno v:
Journal of molecular neuroscience : MN. 70(9)
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by the degeneration of motor neurons. Between 12 and 20% of inherited cases and approximately 1–2% of all cases are caused by mutations in the gene encoding dismutase
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::213cc7787383dd9a7ab426260909b0fd
https://pubmed.ncbi.nlm.nih.gov/32529537
https://pubmed.ncbi.nlm.nih.gov/32529537
Publikováno v:
Critical reviews in biochemistry and molecular biology. 53(6)
Rab GTPases are becoming increasingly implicated in neurodegenerative disorders, although their role in amyotrophic lateral sclerosis (ALS) has been somewhat overlooked. However, dysfunction of intracellular transport is gaining increasing attention
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62e1fcbc5726a5b2d7b8a15fd7a7e630
https://pubmed.ncbi.nlm.nih.gov/30741580
https://pubmed.ncbi.nlm.nih.gov/30741580
Publikováno v:
Expert Opinion on Therapeutic Targets. 21:37-49
There is increasing evidence that endoplasmic reticulum (ER) chaperones Protein Disulphide Isomerase (PDI) and ERp57 (endoplasmic reticulum protein 57) are protective against neurodegenerative diseases related to protein misfolding, including Amyotro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8722d5bd1def09bcf8f53578790480a
https://doi.org/10.1080/14728222.2016.1254197
https://doi.org/10.1080/14728222.2016.1254197
Autor:
Emma R, Perri, Sonam, Parakh, Marta, Vidal, Prachi, Mehta, Yi, Ma, Adam K, Walker, Julie D, Atkin
Publikováno v:
Journal of Molecular Neuroscience. 70:1369-1369
The original version of this article unfortunately contained an error in Fig. 3. The image shown for "C57S" was incorrect.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c77714e73d51deb8ad3efbb4c2eb401e
https://doi.org/10.1007/s12031-020-01617-5
https://doi.org/10.1007/s12031-020-01617-5
Autor:
Mariela B. Fogolín, Sonam Parakh, Marcelo A. Comini, Yuning Hong, Emma R. Perri, Angela S. Laird, Kristy C. Yuan, Collen J. Thomas, Hamideh Shahheydari, Audrey Ragagnin, Damian M. Spencer, Claudia Vanesa Piattoni, Emily K. Don, Sina Shadfar, Julie D. Atkin
Publikováno v:
iScience
iScience, Vol 23, Iss 5, Pp-(2020)
iScience, Vol 23, Iss 5, Pp-(2020)
Summary Pathological forms of TAR DNA-binding protein 43 (TDP-43) are present in almost all cases of amyotrophic lateral sclerosis (ALS), and 20% of familial ALS cases are due to mutations in superoxide dismutase 1 (SOD1). Redox regulation is critica
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc4ce365ba3018685e16e79fcd882c2f
https://doi.org/10.1016/j.isci.2020.101097
https://doi.org/10.1016/j.isci.2020.101097