Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Michelle Smidak"'
Autor:
Emmanuel A Asante, Jacqueline M Linehan, Andrew Tomlinson, Tatiana Jakubcova, Shyma Hamdan, Andrew Grimshaw, Michelle Smidak, Asif Jeelani, Akin Nihat, Simon Mead, Sebastian Brandner, Jonathan D F Wadsworth, John Collinge
Publikováno v:
PLoS Biology, Vol 18, Iss 6, p e3000725 (2020)
Inherited prion diseases are caused by autosomal dominant coding mutations in the human prion protein (PrP) gene (PRNP) and account for about 15% of human prion disease cases worldwide. The proposed mechanism is that the mutation predisposes to confo
Externí odkaz:
https://doaj.org/article/23162b9d52f24df19f6d1cd295aceaa2
Autor:
Emmanuel A Asante, Andrew Grimshaw, Michelle Smidak, Tatiana Jakubcova, Andrew Tomlinson, Asif Jeelani, Shyma Hamdan, Caroline Powell, Susan Joiner, Jacqueline M Linehan, Sebastian Brandner, Jonathan D F Wadsworth, John Collinge
Publikováno v:
PLoS Pathogens, Vol 11, Iss 7, p e1004953 (2015)
Inherited prion disease (IPD) is caused by autosomal-dominant pathogenic mutations in the human prion protein (PrP) gene (PRNP). A proline to leucine substitution at PrP residue 102 (P102L) is classically associated with Gerstmann-Sträussler-Scheink
Externí odkaz:
https://doaj.org/article/cbedaacc47634d168258a9c11682a9a1
Autor:
Emmanuel A Asante, Jacqueline M Linehan, Michelle Smidak, Andrew Tomlinson, Andrew Grimshaw, Asif Jeelani, Tatiana Jakubcova, Shyma Hamdan, Caroline Powell, Sebastian Brandner, Jonathan D F Wadsworth, John Collinge
Publikováno v:
PLoS Pathogens, Vol 9, Iss 9, p e1003643 (2013)
Prions are infectious agents causing fatal neurodegenerative diseases of humans and animals. In humans, these have sporadic, acquired and inherited aetiologies. The inherited prion diseases are caused by one of over 30 coding mutations in the human p
Externí odkaz:
https://doaj.org/article/1653ee8f3d5d48f2b5bd5437c7915f67
Autor:
John Collinge, Andrew Tomlinson, Sebastian Brandner, Tatiana Jakubcova, Shyma Hamdan, Jacqueline M. Linehan, Andrew Grimshaw, Akin Nihat, Jonathan D. F. Wadsworth, Michelle Smidak, Simon Mead, Emmanuel A. Asante, Asif Jeelani
Publikováno v:
PLoS Biology, Vol 18, Iss 6, p e3000725 (2020)
PLoS Biology
PLoS Biology
The prion protein, PrP, can adopt at least 2 conformations, the overwhelmingly prevalent cellular conformation (PrPC) and the scrapie conformation (PrPSc). PrPC features a globular C-terminal domain containing 3 α-helices and a short β-sheet and a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65d8263c582a35cd88bf221a4058b1b3
https://doi.org/10.1371/journal.pbio.3000725
https://doi.org/10.1371/journal.pbio.3000725
Autor:
Catherine O'Malley, Nicholas Parkinson, John Collinge, Sarah Mizielinska, Mar Fernandez de Marco, Michael Farmer, Michelle Smidak, Shabnam Ghazi-Noori, Sebastian Brandner, Elizabeth M. C. Fisher, Emmanuel A. Asante, Caroline Powell, Adrian M. Isaacs, Kristina E. Froud
Publikováno v:
Brain. 135:819-832
Mutations in the charged multivesicular body protein 2B ( CHMP2B ) gene cause frontotemporal lobar degeneration. The mutations lead to C-terminal truncation of the CHMP2B protein. We generated Chmp2b knockout mice and transgenic mice expressing eithe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::373fd3055aef011e93c1e2d167c96c44
https://doi.org/10.1093/brain/aws006
https://doi.org/10.1093/brain/aws006
Autor:
Olufunmilayo Osiguwa, Jacqueline M. Linehan, John Collinge, Jonathan D. F. Wadsworth, Michelle Smidak, Sebastian Brandner, Andrew Tomlinson, Emmanuel A. Asante, Susan Joiner, Andrew Grimshaw, Ian Gowland, Richard Houghton
Publikováno v:
The Journal of General Virology
Approximately 15 % of human prion disease is associated with autosomal-dominant pathogenic mutations in the prion protein (PrP) gene. Previous attempts to model these diseases in mice have expressed human PrP mutations in murine PrP, but this may hav
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7169356fd99ee11fbd5e2c38476762bf
http://europepmc.org/articles/PMC2885063
http://europepmc.org/articles/PMC2885063
Autor:
Jacqueline M. Linehan, Angela Richard-Londt, Asif Jeelani, Emmanuel A. Asante, Jonathan D. F. Wadsworth, Michelle Smidak, Michael P. Alpers, Tatiana Jakubcova, Andrew Grimshaw, Jerome Whitfield, Simon Mead, Richard Houghton, Sebastian Brandner, Andrew Tomlinson, Shyma Hamdan, John Collinge
Publikováno v:
Nature. 522(7557)
Mammalian prions, transmissible agents causing lethal neurodegenerative diseases, are composed of assemblies of misfolded cellular prion protein (PrP). A novel PrP variant, G127V, was under positive evolutionary selection during the epidemic of kuru-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78cfe8d57995dc98f50b3681af7e3315
https://pubmed.ncbi.nlm.nih.gov/26071523
https://pubmed.ncbi.nlm.nih.gov/26071523