Zobrazeno 1 - 5
of 5
pro vyhledávání: '"genetics [3' Untranslated Regions]"'
Publikováno v:
Nucleic acid therapeutics 33(1), 58-71 (2023). doi:10.1089/nat.2022.0048
SHANK3 is a member of the SHANK family of scaffolding proteins that localize to the postsynaptic density of excitatory synapses. Mutations within the SHANK3 gene or SHANK3 haploinsufficiency is thought to be one of the major causes for Phelan-McDermi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_____10678::83100cf3a5a9342d86b8396fd56ac5e6
Publikováno v:
The journal of biological chemistry 289(37), 25879-25889 (2014). doi:10.1074/jbc.M114.560128
Frontotemporal lobar degeneration is associated with cytoplasmic or nuclear deposition of the TAR DNA-binding protein 43 (TDP-43). Haploinsufficiency of progranulin (GRN) is a major genetic risk factor for frontotemporal lobar degeneration associated
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::793e1c84c38ddcab7db0f1a3c2a6f835
https://doi.org/10.1074/jbc.m114.560128
https://doi.org/10.1074/jbc.m114.560128
Autor:
Ronald C. Petersen, William W. Seeley, Glenda M. Halliday, Dennis W. Dickson, Ian R. A. Mackenzie, Manuela Neumann, John C. van Swieten, Rosa Rademakers, Matt Baker, Bradley F. Boeve, Keith A. Josephs, Nicola J. Rutherford, Thomas A. Ravenscroft, Jillian J. Kril
Publikováno v:
Neurobiology of aging 34(9), 2235.e11-2235.e13 (2013). doi:10.1016/j.neurobiolaging.2013.04.004
Neurobiology of Aging, 34(9), 2235.e11-2235.e13. Elsevier Inc.
Neurobiology of Aging
Neurobiology of aging, vol 34, iss 9
Neurobiology of aging
Neurobiology of Aging, 34(9). Elsevier Inc.
Ravenscroft, T A, Baker, M C, Rutherford, N J, Neumann, M, Mackenzie, I R, Josephs, K A, Boeve, B F, Petersen, R, Halliday, G M, Kril, J, van Swieten, J C, Seeley, W W, Dickson, D W & Rademakers, R 2013, ' Mutations in protein N-arginine methyltransferases are not the cause of FTLD-FUS ', Neurobiology of Aging, vol. 34, no. 9, pp. 2235.e11-2235.e13 . https://doi.org/10.1016/j.neurobiolaging.2013.04.004
Neurobiology of Aging, 34(9), 2235.e11-2235.e13. Elsevier Inc.
Neurobiology of Aging
Neurobiology of aging, vol 34, iss 9
Neurobiology of aging
Neurobiology of Aging, 34(9). Elsevier Inc.
Ravenscroft, T A, Baker, M C, Rutherford, N J, Neumann, M, Mackenzie, I R, Josephs, K A, Boeve, B F, Petersen, R, Halliday, G M, Kril, J, van Swieten, J C, Seeley, W W, Dickson, D W & Rademakers, R 2013, ' Mutations in protein N-arginine methyltransferases are not the cause of FTLD-FUS ', Neurobiology of Aging, vol. 34, no. 9, pp. 2235.e11-2235.e13 . https://doi.org/10.1016/j.neurobiolaging.2013.04.004
The nuclear protein fused in sarcoma (FUS) is found in cytoplasmic inclusions in a subset of patients with the neurodegenerative disorder frontotemporal lobar degeneration (FTLD-FUS). FUS contains a methylated arginine-glycine-glycine domain that is
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c684b28f1c3b800e70556709fc2cf2d
Autor:
Jens Hansen, Peer-Hendrik Kuhn, Wolfgang Wurst, Regina Augustin, Dietrich Trümbach, Sven Reinhardt, Stefan F. Lichtenthaler, Kristina Endres
Publikováno v:
BMC Medical Genetics
BMC Med. Genet. 13:35 (2012)
BMC Medical Genetics, Vol 13, Iss 1, p 35 (2012)
BMC medical genetics 13(1), 35 (2012). doi:10.1186/1471-2350-13-35
BMC Med. Genet. 13:35 (2012)
BMC Medical Genetics, Vol 13, Iss 1, p 35 (2012)
BMC medical genetics 13(1), 35 (2012). doi:10.1186/1471-2350-13-35
Background MicroRNAs (miRNAs) are post-transcriptional regulators involved in numerous biological processes including the pathogenesis of Alzheimer’s disease (AD). A key gene of AD, ADAM10, controls the proteolytic processing of APP and the formati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9e96c0c18b78e3f6fe1ef92d14550cf
https://doi.org/10.1186/1471-2350-13-35
https://doi.org/10.1186/1471-2350-13-35
Autor:
Simon Mead, John Beck, Holger Hummerich, Ana Lukic, Inga Zerr, Gary Adamson, John Collinge, James Uphill, Mark Poulter, Craig A. Brown, Jerome Whitfield, Claudia Ponto, Sarah E. Lloyd, Tracy Campbell
Publikováno v:
Neurobiology of aging 36(5), 2004.e1-2004.e8 (2015). doi:10.1016/j.neurobiolaging.2015.01.011
Prion diseases are a diverse group of neurodegenerative conditions, caused by the templated misfolding of prion protein. Aside from the strong genetic risk conferred by multiple variants of the prion protein gene (PRNP), several other variants have b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6a36398fff60677cf24bba0298e4888
https://doi.org/10.1016/j.neurobiolaging.2015.01.011
https://doi.org/10.1016/j.neurobiolaging.2015.01.011