Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies

Autor: Tatiana Orme, Dena Hernandez, Owen A. Ross, Celia Kun-Rodrigues, Lee Darwent, Claire E. Shepherd, Laura Parkkinen, Olaf Ansorge, Lorraine Clark, Lawrence S. Honig, Karen Marder, Afina Lemstra, Ekaterina Rogaeva, Peter St. George-Hyslop, Elisabet Londos, Henrik Zetterberg, Kevin Morgan, Claire Troakes, Safa Al-Sarraj, Tammaryn Lashley, Janice Holton, Yaroslau Compta, Vivianna Van Deerlin, John Q. Trojanowski, Geidy E. Serrano, Thomas G. Beach, Suzanne Lesage, Douglas Galasko, Eliezer Masliah, Isabel Santana, Pau Pastor, Pentti J. Tienari, Liisa Myllykangas, Minna Oinas, Tamas Revesz, Andrew Lees, Brad F. Boeve, Ronald C. Petersen, Tanis J. Ferman, Valentina Escott-Price, Neill Graff-Radford, Nigel J. Cairns, John C. Morris, Stuart Pickering-Brown, David Mann, Glenda Halliday, David J. Stone, Dennis W. Dickson, John Hardy, Andrew Singleton, Rita Guerreiro, Jose Bras

Publikováno v: Acta Neuropathologica Communications, Vol 8, Iss 1, Pp 1-11 (2020)

Abstract Dementia with Lewy bodies (DLB) is a clinically heterogeneous disorder with a substantial burden on healthcare. Despite this, the genetic basis of the disorder is not well defined and its boundaries with other neurodegenerative diseases are

Externí odkaz: https://doaj.org/article/eb7da7eb422d4a428e7652ae48f842e3

A deletion of IDUA exon 10 in a family of Golden Retriever dogs with an attenuated form of mucopolysaccharidosis type I

Autor: Rita Guerreiro, Kiterie M. E. Faller, Angie Rupp, Jose Bras, Alison Ridyard, Rodrigo Gutierrez-Quintana, Celia Kun-Rodrigues, Tatiana Orme, Heather J. Church, Karen Tylee

Publikováno v: Journal of Veterinary Internal Medicine, Vol 34, Iss 5, Pp 1813-1824 (2020)
Journal of Veterinary Internal Medicine

Background:\ud \ud Mucopolysaccharidosis type I (MPS‐I) is a lysosomal storage disorder caused by a deficiency of the enzyme α‐l‐iduronidase, leading to accumulation of undegraded dermatan and heparan sulfates in the cells and secondary multio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ce7a23f4302e61f241dcf94594ce389
https://doi.org/10.1111/jvim.15868

A comprehensive screening of copy number variability in dementia with Lewy bodies

Autor: Sonja W. Scholz, Pentti J. Tienari, Dena G. Hernandez, Elisabet Londos, Alberto Lleó, Imelda Barber, Jose Bras, Owen A. Ross, Tanis J. Ferman, Tatiana Orme, Juan C. Troncoso, Andrew B. Singleton, John D. Eicher, John Hardy, Karen Marder, Tammaryn Lashley, Douglas Galasko, Liisa Myllykangas, Ted M. Dawson, Eliezer Masliah, David M. A. Mann, Ekaterina Rogaeva, Stuart Pickering-Brown, Monica Diez-Fairen, Claire Troakes, Peter St George-Hyslop, Nigel J. Cairns, Dennis W. Dickson, Lee Darwent, Thomas G. Beach, David J. Stone, Olga Pletnikova, Glenda M. Halliday, Jordi Clarimón, John Q. Trojanowski, Anne Braae, Claire E. Shepherd, Pau Pastor, Geidy E. Serrano, Susana Carmona, Minna Oinas, Andrew J. Lees, Afina W. Lemstra, Miquel Aguilar, Laura Parkkinen, Rita Guerreiro, Estrella Morenas-Rodríguez, Janice L. Holton, Olaf Ansorge, Tamas Revesz, Vivianna M. Van Deerlin, Neill R. Graff-Radford, Safa Al-Sarraj, Kristelle Brown, Valentina Escott-Price, Suzanne Lesage, Lawrence S. Honig, Celia Kun-Rodrigues, John C. Morris, Ronald C. Petersen, Henrik Zetterberg, Kevin Morgan, Brad F. Boeve, Lorraine N. Clark, Isabel Santana, Yaroslau Compta, Liana S. Rosenthal, Michael G. Heckman

Publikováno v: Kun-Rodrigues, C, Orme, T, Carmona, S, Hernandez, D G, Ross, O A, Eicher, J D, Shepherd, C, Parkkinen, L, Darwent, L, Heckman, M G, Scholz, S W, Troncoso, J C, Pletnikova, O, Dawson, T, Rosenthal, L, Ansorge, O, Clarimon, J, Lleo, A, Morenas-Rodriguez, E, Clark, L, Honig, L S, Marder, K, Lemstra, A, Rogaeva, E, St. George-Hyslop, P, Londos, E, Zetterberg, H, Barber, I, Braae, A, Brown, K, Morgan, K, Troakes, C, Al-Sarraj, S, Lashley, T, Holton, J, Compta, Y, van Deerlin, V, Serrano, G E, Beach, T G, Lesage, S, Galasko, D, Masliah, E, Santana, I, Pastor, P, Diez-Fairen, M, Aguilar, M, Tienari, P J, Myllykangas, L, Oinas, M, Revesz, T, Lees, A, Boeve, B F, Petersen, R C, Ferman, T J, Escott-Price, V, Graff-Radford, N, Cairns, N J, Morris, J C, Pickering-Brown, S, Mann, D, Halliday, G M, Hardy, J, Trojanowski, J Q, Dickson, D W, Singleton, A, Stone, D J, Guerreiro, R & Bras, J 2019, ' A comprehensive screening of copy number variability in dementia with Lewy bodies ', Neurobiology of Aging, vol. 75, pp. 223.e1-223.e10 . https://doi.org/10.1016/j.neurobiolaging.2018.10.019
Neurobiology of aging 75, 223.e1-223.e10 (2019). doi:10.1016/j.neurobiolaging.2018.10.019
Neurobiology of Aging, 75, 223.e1-223.e10. Elsevier Inc.
NEUROBIOLOGY OF AGING
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname

The role of genetic variability in dementia with Lewy bodies (DLB) is now indisputable; however, data regarding copy number variation (CNV) in this disease has been lacking. Here, we used whole-genome genotyping of 1454 DLB cases and 1525 controls to

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4fe78b5077a5e0a2df60bae68e7079cb
https://hdl.handle.net/10400.4/2247

Is APOE ε4 required for Alzheimer's disease to develop in TREM2 p.R47H variant carriers?

Autor: Amanda B. Kuzma, Adam C. Naj, Gerard D. Schellenberg, Rita Guerreiro, Jose Bras, Tatiana Orme

Publikováno v: Neuropathology and applied neurobiology. 45(2)

Murray and colleagues [1] reported the occurrence of pathologically-confirmed Alzheimer's disease (AD) in cases harbouring the TREM2 p.R47H variant only when APOE e4 alleles were also present. They suggested that the presence of an e4 APOE allele is

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04b4496ca23c5f2ffa6d173b848cf629
https://pubmed.ncbi.nlm.nih.gov/29411406

Investigating the genetic architecture of dementia with Lewy bodies:a two-stage genome-wide association study

Autor: Andrew B. Singleton, David M. A. Mann, Karen Marder, Dena G. Hernandez, Olaf Ansorge, Juan C. Troncoso, Eliezer Masliah, Neill R. Graff-Radford, Claire Troakes, Pentti J. Tienari, Geidy E. Serrano, Monica Diez-Fairen, Peter St George-Hyslop, Safa Al-Sarraj, Tatiana Orme, John Q. Trojanowski, Rita Guerreiro, Andrew J. Lees, Olga Pletnikova, Estrella Morenas-Rodríguez, Kristelle Brown, Valentina Escott-Price, Anne Braae, Michael G. Heckman, Claire E. Shepherd, Janice L. Holton, Suzanne Lesage, Glenda M. Halliday, Jordi Clarimón, Minna Oinas, Isabel Santana, Imelda Barber, Lawrence S. Honig, Ekaterina Rogaeva, Elisabet Londos, Liisa Myllykangas, Ronald C. Petersen, Yaroslau Compta, Douglas Galasko, Stuart Pickering-Brown, Henrik Zetterberg, Vivianna M. Van Deerlin, Celia Kun-Rodrigues, Dennis W. Dickson, Sonja W. Scholz, Tamas Revesz, Kevin Morgan, Lee Darwent, Afina W. Lemstra, Miquel Aguilar, John C. Morris, Brad F. Boeve, Laura Parkkinen, Jose Bras, Tanis J. Ferman, Nigel J. Cairns, David J. Stone, Owen A. Ross, Tammaryn Lashley, Pau Pastor, John D. Eicher, John Hardy, Alberto Lleó, Lorraine N. Clark, Thomas G. Beach

Publikováno v: ICALS 2018, ' Investigating the genetic architecture of dementia with Lewy bodies : a two-stage genome-wide association study ', The Lancet. Neurology, vol. 17, no. 1, pp. 64-74 . https://doi.org/10.1016/S1474-4422(17)30400-3
Guerreiro, R, Ross, O A, Kun-Rodrigues, C, Hernandez, D G, Orme, T, Eicher, J D, Shepherd, C E, Parkkinen, L, Darwent, L, Heckman, M G, Scholz, S W, Troncoso, J C, Pletnikova, O, Ansorge, O, Clarimon, J, Lleo, A, Morenas-Rodriguez, E, Clark, L, Honig, L S, Marder, K, Lemstra, A, Rogaeva, E, St George-Hyslop, P, Londos, E, Zetterberg, H, Barber, I, Braae, A, Brown, K, Morgan, K, Troakes, C, Al-Sarraj, S, Lashley, T, Holton, J, Compta, Y, Van Deerlin, V, Serrano, G E, Beach, T G, Lesage, S, Galasko, D, Masliah, E, Santana, I, Pastor, P, Diez-Fairen, M, Aguilar, M, Tienari, P J, Myllykangas, L, Oinas, M, Revesz, T, Lees, A, Boeve, B F, Petersen, R C, Ferman, T J, Escott-Price, V, Graff-Radford, N, Cairns, N J, Morris, J C, Pickering-Brown, S, Mann, D, Halliday, G M, Hardy, J, Trojanowski, J Q, Dickson, D W, Singleton, A, Stone, D J & Bras, J 2018, ' Investigating the genetic architecture of dementia with Lewy bodies : a two-stage genome-wide association study ', Lancet Neurology, vol. 17, no. 1, pp. 64-74 . https://doi.org/10.1016/S1474-4422(17)30400-3
Guerreiro, R, Ross, O A, Kun-Rodrigues, C, Hernandez, D G, Orme, T, Eicher, J D, Shepherd, C E, Parkkinen, L, Darwent, L, Heckman, M G, Scholz, S W, Troncoso, J C, Pletnikova, O, Ansorge, O, Clarimon, J, Lleo, A, Morenas-Rodriguez, E, Clark, L, Honig, L S, Marder, K, Lemstra, A, Rogaeva, E, St George-Hyslop, P, Londos, E, Zetterberg, H, Barber, I, Braae, A, Brown, K, Morgan, K, Troakes, C, Al-Sarraj, S, Lashley, T, Holton, J, Compta, Y, van Deerlin, V, Serrano, G E, Beach, T G, Lesage, S, Galasko, D, Masliah, E, Santana, I, Pastor, P, Diez-Fairen, M, Aguilar, M, Tienari, P J, Myllykangas, L, Oinas, M, Revesz, T, Lees, A, Boeve, B F, Petersen, R C, Ferman, T J, Escott-Price, V, Graff-Radford, N, Cairns, N J, Morris, J C, Pickering-Brown, S, Mann, D, Halliday, G M, Hardy, J, Trojanowski, J Q, Dickson, D W, Singleton, A, Stone, D J & Bras, J 2018, ' Investigating the genetic architecture of dementia with Lewy bodies: a two-stage genome-wide association study ', The Lancet Neurology, vol. 17, no. 1, pp. 64-74 . https://doi.org/10.1016/S1474-4422(17)30400-3
The lancet / Neurology 17(1), 64-74 (2018). doi:10.1016/S1474-4422(17)30400-3
LANCET NEUROLOGY
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
The Lancet Neurology, 17(1), 64-74. Lancet Publishing Group
The Lancet Neurology
ResearcherID

BACKGROUND: Dementia with Lewy bodies is the second most common form of dementia in elderly people but has been overshadowed in the research field, partly because of similarities between dementia with Lewy bodies, Parkinson's disease, and Alzheimer's

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6170713f34d6fe2baab3773cace8cd38
https://doi.org/10.1016/S1474-4422(17)30400-3