Zobrazeno 1 - 10
of 36
pro vyhledávání: '"Jouni Vesa"'
Publikováno v:
Data in Brief, Vol 8, Iss , Pp 741-749 (2016)
The article contains raw and analyzed data related to the research article “Neuronal ceroid lipofuscinosis genes, CLN2, CLN3, CLN5 are spatially and temporally co-expressed in a developing mouse brain” (Fabritius et al., 2014) [1]. The processed
Externí odkaz:
https://doaj.org/article/4fe2f5cad63f4677a8ce43401c9826db
Autor:
Anu Jalanko, Jouni Vesa, Tuula Manninen, Carina von Schantz, Helena Minye, Anna-Liisa Fabritius, Tarja Salonen, Juhani Rapola, Massimiliano Gentile, Outi Kopra, Leena Peltonen
Publikováno v:
Neurobiology of Disease, Vol 18, Iss 1, Pp 226-241 (2005)
Infantile Neuronal Ceroid Lipofuscinosis (INCL) results from mutations in the palmitoyl protein thioesterase (PPT1, CLN1) gene and is characterized by dramatic death of cortical neurons. We generated Ppt1Δex4 mice by a targeted deletion of exon 4 of
Externí odkaz:
https://doaj.org/article/9f070bfc93fe462c91c2552ca1be77fa
Autor:
Mallikarjun Badadani, Angèle Nalbandian, Giles D Watts, Jouni Vesa, Masashi Kitazawa, Hailing Su, Jasmin Tanaja, Eric Dec, Douglas C Wallace, Jogeshwar Mukherjee, Vincent Caiozzo, Matthew Warman, Virginia E Kimonis
Publikováno v:
PLoS ONE, Vol 5, Iss 10, p e13183 (2010)
Dominant mutations in the valosin containing protein (VCP) gene cause inclusion body myopathy associated with Paget's disease of bone and frontotemporal dementia (IBMPFD). We have generated a knock-in mouse model with the common R155H mutation. Mice
Externí odkaz:
https://doaj.org/article/2cdd0745e5b14c47b170f59034a2bb34
Publikováno v:
Data in Brief, Vol 8, Iss, Pp 741-749 (2016)
Data in Brief
Data in Brief
The article contains raw and analyzed data related to the research article “Neuronal ceroid lipofuscinosis genes, CLN2, CLN3, CLN5 are spatially and temporally co-expressed in a developing mouse brain” (Fabritius et al., 2014) [1]. The processed
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2268c9ca62b22e81339307e4dd95c87
http://www.sciencedirect.com/science/article/pii/S235234091630395X
http://www.sciencedirect.com/science/article/pii/S235234091630395X
Autor:
Andrew J. Dunnigan, Hailing Su, Maria C. Kenney, Marilyn Chwa, Katrina J. Llewellyn, Virginia Kimonis, Arianna Gomez, Jouni Vesa, Naomi Walker, Angèle Nalbandian
Publikováno v:
Mitochondrion. 22:1-8
Mitochondrial dysfunction has recently been implicated as an underlying factor to several common neurodegenerative diseases, including Parkinson’s disease, Alzheimer’s and amyotrophic lateral sclerosis (ALS). Valosin containing protein (VCP)-asso
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::412657b8fa1cc2f8ac434a558c91dd3a
https://doi.org/10.1016/j.mito.2015.02.004
https://doi.org/10.1016/j.mito.2015.02.004
Autor:
Susan Knoblach, Angèle Nalbandian, Katrina J. Llewellyn, Svetlana Ghimbovschi, M.R.C.P. Virginia E. Kimonis M.D., Eric P. Hoffman, Zuyi Wang, Jouni Vesa
Publikováno v:
Clinical and Translational Science. 8:8-16
Dominant mutations in the valosin-containing protein (VCP) gene cause inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia, which is characterized by progressive muscle weakness, dysfunction in bone remodeling, an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8e730018b71d3ba79ee54beb25d0f2f0
https://doi.org/10.1111/cts.12241
https://doi.org/10.1111/cts.12241
Autor:
Jouni Vesa, Giles D. J. Watts, Eric Dec, Douglas C. Wallace, Barbara Martin, Angèle Nalbandian, Charles D. Smith, Virginia Kimonis, Vincent J. Caiozzo, Mallikarjun Badadani
Publikováno v:
Muscle Aging, Inclusion-Body Myositis and Myopathies
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ab32ab41e06b3e1d2ad9bf2567d799ae
https://doi.org/10.1002/9781444398311.ch15
https://doi.org/10.1002/9781444398311.ch15
Autor:
Tso-Pang Yao, Florian A. Salomons, Laura C. Bott, J. Paul Taylor, Jouni Vesa, Nico P. Dantuma, Virginia Kimonis, Emilie Tresse
Publikováno v:
Karolinska Institutet
VCP (VCP/p97) is a ubiquitously expressed member of the AAA+-ATPase family of chaperone-like proteins that regulates numerous cellular processes including chromatin decondensation, homotypic membrane fusion, and ubiquitin-dependent protein degradatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ec5d908fb45c51c17a46e6c24e8905c
https://doi.org/10.4161/auto.6.2.11014
https://doi.org/10.4161/auto.6.2.11014
Autor:
Marjo Kestilä, Jouni Vesa, Saara Finnilä, Tzu-Kang Sang, Ilona Visapää, Outi Kopra, Riitta Salonen, Heli Honkala, Lisa Mee, George R. Jackson, Leena Peltonen
Publikováno v:
Human Molecular Genetics. 14:1475-1488
Hydrolethalus syndrome (HLS) is an autosomal recessive lethal malformation syndrome characterized by multiple developmental defects of fetus. We have earlier mapped and restricted the HLS region to a critical 1 cM interval on 11q23-25. The linkage di
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67ee4e8c3c42c42a99853e232a8351cb
https://doi.org/10.1093/hmg/ddi157
https://doi.org/10.1093/hmg/ddi157
Publikováno v:
Biochemical and Biophysical Research Communications. 328:235-242
Down syndrome (DS) is caused by trisomy for human chromosome 21 and is the most common genetic cause of mental retardation. The distal 10 Mb region of the long arm of the chromosome has been proposed to be associated with many of the abnormalities se
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e9a50eb7ba89de8a53000ae1506fc7a
https://doi.org/10.1016/j.bbrc.2004.09.226
https://doi.org/10.1016/j.bbrc.2004.09.226