Zobrazeno 1 - 10
of 39
pro vyhledávání: '"SNCA protein, human"'
Publikováno v:
Movement disorders 36(9), 2212-2213 (2021). doi:10.1002/mds.28742
Autor:
Hui Liu, Anastasia Bougea, Matina Maniati, Claudia Schulte, Konstantinos Voumvourakis, Sokratis G. Papageorgiou, Leonidas Stefanis, Markus Zweckstetter, Christos Koros, Thomas Gasser, Alain Ibáñez de Opakua, Athina Simitsi, Stefanos Varvaresos, Timo Strohäker, Maria Bozi, Ann-Kathrin Hauser, Stefan Becker
Publikováno v:
Movement disorders 36(7), 1624-1633 (2021). doi:10.1002/mds.28534
Background The SNCA gene encoding α-synuclein (αSyn) is the first gene identified to cause autosomal-dominant Parkinson's disease (PD). Objective We report the identification of a novel heterozygous A30G mutation of the SNCA gene in familial PD and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::88105c96b7afbcd633fdacc03bef4d62
https://pub.dzne.de/record/155632
https://pub.dzne.de/record/155632
Autor:
Chia, Ruth, Sabir, Marya S, Makarious, Mary B, Serrano, Geidy E, Beach, Thomas G, McKeith, Ian G, Thomas, Alan J, Attems, Johannes, Morris, Christopher M, Palmer, Laura, Love, Seth, Troakes, Claire, Al-Sarraj, Safa, Diez-Fairen, Monica, Hodges, Angela K, Aarsland, Dag, Klein, Gregory, Kaiser, Scott M, Woltjer, Randy, Pastor, Pau, Bekris, Lynn M, Leverenz, James B, Besser, Lilah M, Kuzma, Amanda, Portley, Makayla K, Renton, Alan E, Goate, Alison, Bennett, David A, Scherzer, Clemens R, Morris, Huw R, Ferrari, Raffaele, Albani, Diego, Pickering-Brown, Stuart, Faber, Kelley, Kukull, Walter A, Shah, Zalak, Morenas-Rodriguez, Estrella, Lleó, Alberto, Fortea, Juan, Alcolea, Daniel, Clarimon, Jordi, Nalls, Mike A, Ferrucci, Luigi, Resnick, Susan M, Tanaka, Toshiko, Foroud, Tatiana M, Abramzon, Yevgeniya, Graff-Radford, Neill R, Wszolek, Zbigniew K, Ferman, Tanis, Boeve, Bradley F, Hardy, John A, Topol, Eric J, Torkamani, Ali, Singleton, Andrew B, Ryten, Mina, Dickson, Dennis W, Hernandez, Dena Michelle Godwin, Chiò, Adriano, Ross, Owen A, Gibbs, J Raphael, Dalgard, Clifton L, Traynor, Bryan J, Scholz, Sonja W, Sotis, Anthony R, Sukumar, Gauthaman, Alba, Camille, Lott, Nathaniel, Blauwendraat, Cornelis, Martinez, Elisa McGrath, Tuck, Meila, Singh, Jatinder, Bacikova, Dagmar, Zhang, Xijun, Hupalo, Daniel N, Adeleye, Adelani, Wilkerson, Matthew D, Pollard, Harvey B, Stone, David J, Eicher, John, Parkkinen, Laura, Bandres-Ciga, Sara, Ansorge, Olaf, Clark, Lorraine, Honig, Lawrence S, Marder, Karen, Lemstra, Afina, St George-Hyslop, Peter, Londos, Elisabet, Morgan, Kevin, Lashley, Tammaryn, Warner, Thomas T, Saez-Atienzar, Sara, Jaunmuktane, Zane, Galasko, Douglas, Santana, Isabel, Tienari, Pentti J, Myllykangas, Liisa, Oinas, Minna, Cairns, Nigel J, Morris, John C, Halliday, Glenda M, Van Deerlin, Vivianna M, Reynolds, Regina H, Trojanowski, John Q, Grassano, Maurizio, Calvo, Andrea, Mora, Gabriele, Canosa, Antonio, Floris, Gianluca, Bohannan, Ryan C, Brett, Francesca, Gan-Or, Ziv, Geiger, Joshua T, Gustavsson, Emil, Moore, Anni, May, Patrick, Krüger, Rejko, Goldstein, David S, Lopez, Grisel, Tayebi, Nahid, Sidransky, Ellen, Center, American Genome, Norcliffe-Kaufmann, Lucy, Palma, Jose-Alberto, Walton, Ronald L, Kaufmann, Horacio, Shakkottai, Vikram G, Perkins, Matthew, Newell, Kathy L, Gasser, Thomas, Schulte, Claudia, Landi, Francesco, Salvi, Erika, Cusi, Daniele, Masliah, Eliezer, Ahmed, Sarah, Kim, Ronald C, Caraway, Chad A, Monuki, Edwin S, Brunetti, Maura, Dawson, Ted M, Rosenthal, Liana S, Albert, Marilyn S, Pletnikova, Olga, Troncoso, Juan C, Flanagan, Margaret E, Viollet, Coralie, Mao, Qinwen, Bigio, Eileen H, Rodríguez-Rodríguez, Eloy, Infante, Jon, Lage, Carmen, González-Aramburu, Isabel, Sanchez-Juan, Pascual, Ghetti, Bernardino, Keith, Julia, Black, Sandra E, Ding, Jinhui, Masellis, Mario, Rogaeva, Ekaterina, Duyckaerts, Charles, Brice, Alexis, Lesage, Suzanne, Xiromerisiou, Georgia, Barrett, Matthew J, Tilley, Bension S, Gentleman, Steve, Logroscino, Giancarlo
Publikováno v:
Nature genetics 53(3), 294-303 (2021). doi:10.1038/s41588-021-00785-3
Nature genetics
Chia, R, Palmer, L, Love, S, Scholz, S 2021, ' Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture ', Nature Genetics, vol. 53, no. 3, pp. 294-303 . https://doi.org/10.1038/s41588-021-00785-3
Nature Genetics, 53(3), 294-303. Nature Publishing Group
Chia, R, Sabir, M S, Bandres-Ciga, S, Saez-Atienzar, S, Reynolds, R H, Gustavsson, E, Walton, R L, Ahmed, S, Viollet, C, Ding, J, Makarious, M B, Diez-Fairen, M, Portley, M K, Shah, Z, Abramzon, Y, Hernandez, D G, Blauwendraat, C, Stone, D J, Eicher, J, Parkkinen, L, Ansorge, O, Clark, L, Honig, L S, Marder, K, Lemstra, A, St George-Hyslop, P, Londos, E, Morgan, K, Lashley, T, Warner, T T, Jaunmuktane, Z, Galasko, D, Santana, I, Tienari, P J, Myllykangas, L, Oinas, M, Cairns, N J, Morris, J C, Halliday, G M, van Deerlin, V M, Trojanowski, J Q, Grassano, M, Calvo, A, Mora, G, Canosa, A, Floris, G, Bohannan, R C, Brett, F, Gan-Or, Z, Geiger, J T, Moore, A, May, P, Krüger, R, Goldstein, D S, Lopez, G, Tayebi, N, Sidransky, E, The American Genome Center, Sotis, A R, Sukumar, G, Alba, C, Lott, N, Martinez, E M, Tuck, M, Singh, J, Bacikova, D, Zhang, X, Hupalo, D N, Adeleye, A, Wilkerson, M D, Pollard, H B, Norcliffe-Kaufmann, L, Palma, J-A, Kaufmann, H, Shakkottai, V G, Perkins, M, Newell, K L, Gasser, T, Schulte, C, Landi, F, Salvi, E, Cusi, D, Masliah, E, Kim, R C, Caraway, C A, Monuki, E S, Brunetti, M, Dawson, T M, Rosenthal, L S, Albert, M S, Pletnikova, O, Troncoso, J C, Flanagan, M E, Mao, Q, Bigio, E H, Rodríguez-Rodríguez, E, Infante, J, Lage, C, González-Aramburu, I, Sanchez-Juan, P, Ghetti, B, Keith, J, Black, S E, Masellis, M, Rogaeva, E, Duyckaerts, C, Brice, A, Lesage, S, Xiromerisiou, G, Barrett, M J, Tilley, B S, Gentleman, S, Logroscino, G, Serrano, G E, Beach, T G, McKeith, I G, Thomas, A J, Attems, J, Morris, C M, Palmer, L, Love, S, Troakes, C, Al-Sarraj, S, Hodges, A K, Aarsland, D, Klein, G, Kaiser, S M, Woltjer, R, Pastor, P, Bekris, L M, Leverenz, J B, Besser, L M, Kuzma, A, Renton, A E, Goate, A, Bennett, D A, Scherzer, C R, Morris, H R, Ferrari, R, Albani, D, Pickering-Brown, S, Faber, K, Kukull, W A, Morenas-Rodriguez, E, Lleó, A, Fortea, J, Alcolea, D, Clarimon, J, Nalls, M A, Ferrucci, L, Resnick, S M, Tanaka, T, Foroud, T M, Graff-Radford, N R, Wszolek, Z K, Ferman, T, Boeve, B F, Hardy, J A, Topol, E J, Torkamani, A, Singleton, A B, Ryten, M, Dickson, D W, Chiò, A, Ross, O A, Gibbs, J R, Dalgard, C L, Traynor, B J & Scholz, S W 2021, ' Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture ', Nature Genetics, vol. 53, no. 3, pp. 294-303 . https://doi.org/10.1038/s41588-021-00785-3
Nature genetics
Chia, R, Palmer, L, Love, S, Scholz, S 2021, ' Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture ', Nature Genetics, vol. 53, no. 3, pp. 294-303 . https://doi.org/10.1038/s41588-021-00785-3
Nature Genetics, 53(3), 294-303. Nature Publishing Group
Chia, R, Sabir, M S, Bandres-Ciga, S, Saez-Atienzar, S, Reynolds, R H, Gustavsson, E, Walton, R L, Ahmed, S, Viollet, C, Ding, J, Makarious, M B, Diez-Fairen, M, Portley, M K, Shah, Z, Abramzon, Y, Hernandez, D G, Blauwendraat, C, Stone, D J, Eicher, J, Parkkinen, L, Ansorge, O, Clark, L, Honig, L S, Marder, K, Lemstra, A, St George-Hyslop, P, Londos, E, Morgan, K, Lashley, T, Warner, T T, Jaunmuktane, Z, Galasko, D, Santana, I, Tienari, P J, Myllykangas, L, Oinas, M, Cairns, N J, Morris, J C, Halliday, G M, van Deerlin, V M, Trojanowski, J Q, Grassano, M, Calvo, A, Mora, G, Canosa, A, Floris, G, Bohannan, R C, Brett, F, Gan-Or, Z, Geiger, J T, Moore, A, May, P, Krüger, R, Goldstein, D S, Lopez, G, Tayebi, N, Sidransky, E, The American Genome Center, Sotis, A R, Sukumar, G, Alba, C, Lott, N, Martinez, E M, Tuck, M, Singh, J, Bacikova, D, Zhang, X, Hupalo, D N, Adeleye, A, Wilkerson, M D, Pollard, H B, Norcliffe-Kaufmann, L, Palma, J-A, Kaufmann, H, Shakkottai, V G, Perkins, M, Newell, K L, Gasser, T, Schulte, C, Landi, F, Salvi, E, Cusi, D, Masliah, E, Kim, R C, Caraway, C A, Monuki, E S, Brunetti, M, Dawson, T M, Rosenthal, L S, Albert, M S, Pletnikova, O, Troncoso, J C, Flanagan, M E, Mao, Q, Bigio, E H, Rodríguez-Rodríguez, E, Infante, J, Lage, C, González-Aramburu, I, Sanchez-Juan, P, Ghetti, B, Keith, J, Black, S E, Masellis, M, Rogaeva, E, Duyckaerts, C, Brice, A, Lesage, S, Xiromerisiou, G, Barrett, M J, Tilley, B S, Gentleman, S, Logroscino, G, Serrano, G E, Beach, T G, McKeith, I G, Thomas, A J, Attems, J, Morris, C M, Palmer, L, Love, S, Troakes, C, Al-Sarraj, S, Hodges, A K, Aarsland, D, Klein, G, Kaiser, S M, Woltjer, R, Pastor, P, Bekris, L M, Leverenz, J B, Besser, L M, Kuzma, A, Renton, A E, Goate, A, Bennett, D A, Scherzer, C R, Morris, H R, Ferrari, R, Albani, D, Pickering-Brown, S, Faber, K, Kukull, W A, Morenas-Rodriguez, E, Lleó, A, Fortea, J, Alcolea, D, Clarimon, J, Nalls, M A, Ferrucci, L, Resnick, S M, Tanaka, T, Foroud, T M, Graff-Radford, N R, Wszolek, Z K, Ferman, T, Boeve, B F, Hardy, J A, Topol, E J, Torkamani, A, Singleton, A B, Ryten, M, Dickson, D W, Chiò, A, Ross, O A, Gibbs, J R, Dalgard, C L, Traynor, B J & Scholz, S W 2021, ' Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture ', Nature Genetics, vol. 53, no. 3, pp. 294-303 . https://doi.org/10.1038/s41588-021-00785-3
The genetic basis of Lewy body dementia (LBD) is not well understood. Here, we performed whole-genome sequencing in large cohorts of LBD cases and neurologically healthy controls to study the genetic architecture of this understudied form of dementia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3974702959ca697835fde0e438136c01
Autor:
Céline Galvagnion, Frederik Ravnkilde Marlet, Silvia Cerri, Anthony H V Schapira, Fabio Blandini, Donato A Di Monte
Publikováno v:
Brain Communications
Brain 145(3), 1038-1051 (2022). doi:10.1093/brain/awab371
Galvagnion, C, Marlet, F R, Cerri, S, Schapira, A H V, Blandini, F & Di Monte, D A 2022, ' Sphingolipid changes in Parkinson L444P GBA mutation fibroblasts promote α-synuclein aggregation ', Brain, vol. 145, no. 3, pp. 1038-1051 . https://doi.org/10.1093/brain/awab371
Brain 145(3), 1038-1051 (2022). doi:10.1093/brain/awab371
Galvagnion, C, Marlet, F R, Cerri, S, Schapira, A H V, Blandini, F & Di Monte, D A 2022, ' Sphingolipid changes in Parkinson L444P GBA mutation fibroblasts promote α-synuclein aggregation ', Brain, vol. 145, no. 3, pp. 1038-1051 . https://doi.org/10.1093/brain/awab371
Intraneuronal accumulation of aggregated α-synuclein is a pathological hallmark of Parkinson’s disease. Therefore, mechanisms capable of promoting α-synuclein deposition bear important pathogenetic implications. Mutations of the glucocerebrosidas
Autor:
Joana E. Coelho, Tiago F. Outeiro, Mariana Temido-Ferreira, Inga Zerr, Jeong-Seop Rhee, Matthias Schmitz, Éva M. Szegö, Sandra H. Vaz, Diana G. Ferreira, Vânia L. Batalha, Hugo Vicente Miranda, Luísa V. Lopes, Inês Marques-Morgado
Publikováno v:
Nature reviews / Neuroscience 20(11), 1569-1579 (2017). doi:10.1038/nn.4648
Nature Neuroscience
Nature Neuroscience
© 2017 Nature America, Inc., part of Springer Nature. All rights reserved.
Synucleinopathies, such as Parkinson's disease and dementia with Lewy bodies, are neurodegenerative disorders that are characterized by the accumulation of α-synuclein
Synucleinopathies, such as Parkinson's disease and dementia with Lewy bodies, are neurodegenerative disorders that are characterized by the accumulation of α-synuclein
Autor:
Jochen Herms, Armin Giese, Lidia Blazquez-Llorca, Finn Peters, Sonja Blumenstock, Eva Ferreira Rodrigues, Felix Schmidt
Publikováno v:
EMBO molecular medicine 9(5), 716-731 (2017). doi:10.15252/emmm.201607305
EMBO Molecular Medicine
EMBO Molecular Medicine
Although misfolded and aggregated α‐synuclein (α‐syn) is recognized in the disease progression of synucleinopathies, its role in the impairment of cortical circuitries and synaptic plasticity remains incompletely understood. We investigated how
Autor:
Ayse Ulusoy, Robert J. Phillips, Michael Helwig, Terry L. Powley, Michael Klinkenberg, Donato A. Di Monte
Publikováno v:
Acta neuropathologica 133(3), 381-393 (2016). doi:10.1007/s00401-016-1661-y
Detection of α-synuclein lesions in peripheral tissues is a feature of human synucleinopathies of likely pathogenetic relevance and bearing important clinical implications. Experiments were carried out to elucidate the relationship between α-synucl
Autor:
Philipp Koch, Laura de Boni, Oliver Brüstle, Ullrich Wüllner, Gilles Gasparoni, Jörn Walter, Carolin Haubenreich, Ina Schmitt, Sascha Tierling, Michael Peitz
Publikováno v:
Clinical Epigenetics, Vol 10, Iss 1, Pp 1-13 (2018)
Clinical epigenetics 10(1), 13 (2018). doi:10.1186/s13148-018-0440-0
Clinical Epigenetics
Clinical epigenetics 10(1), 13 (2018). doi:10.1186/s13148-018-0440-0
Clinical Epigenetics
Background Genetic predisposition and epigenetic alterations are both considered to contribute to sporadic neurodegenerative diseases (NDDs) such as Parkinson’s disease (PD). Since cell reprogramming and the generation of induced pluripotent stem c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f34b7beb416a1f7f05852470cf12768
Autor:
Fernandez-Santiago, R., Martin-Flores, N., Antonelli, F., Cerquera, C., Moreno, V., Bandres-Ciga, S., Manduchi, E., Tolosa, E., Singleton, A.B., Moore, J.H., Noyce, A.J., Kaiyrzhanov, R., Middlehurst, B., Kia, D.A., Tan, M., Houlden, H., Morris, H.R., Plun-Favreau, H., Holmans, P., Hardy, J., Trabzuni, D., Bras, J., Quinn, J., Mok, K.Y., Kinghorn, K.J., Billingsley, K., Wood, N.W., Lewis, P., Schreglmann, S., Guerreiro, R., Lovering, R., R'Bibo, L., Manzoni, C., Rizig, M., Ryten, M., Guelfi, S., Escott-Price, V., Chelban, V., Foltynie, T., Williams, N., Morrison, K.E., Clarke, C., Brice, A., Danjou, F., Lesage, S., Corvol, J.C., Martinez, M., Schulte, C., Brockmann, K., Simoon-Saanchez, J., Heutink, P., Rizzu, P., Sharma, M., Gasser, T., Nicolas, A., Cookson, M.R., Blauwendraat, C., Craig, D.W., Faghri, F., Gibbs, J.R., Hernandez, D.G., Keuren-Jensen, K. van, Shulman, J.M., Iwaki, H., Leonard, H.L., Nalls, M.A., Robak, L., Lubbe, S., Finkbeiner, S., Mencacci, N.E., Lungu, C., Scholz, S.W., Reed, X., Alcalay, R.N., Gan-Or, Z., Rouleau, G.A., Krohn, L., Hilten, J.J. van, Marinus, J., Adarmes-Goomez, A.D., Aguilar, I., Alvarez, I., Alvarez, V., Barrero, F.J., Yarza, J.A.B., Bernal-Bernal, I., Blazquez, M., Bonilla-Toribio, M., Botia, J.A., Boungiorno, M.T., Buiza-Rueda, D., Camara, A., Carrillo, F., Carrion-Claro, M., Cerdan, D., Clarimon, J., Compta, Y., Casa, B. de la, Diez-Fairen, M., Dols-Icardo, O., Duarte, J., Duran, R., Escamilla-Sevilla, F., Ezquerra, M., Feliz, C., Fernandez, M., Garcia, C., Garcia-Ruiz, P., Gomez-Garre, P., Heredia, M.J.G., Gonzalez-Aramburu, I., Pagola, A.G., Hoenicka, J., Infante, J., Jesus, S., Jimenez-Escrig, A., Kulisevsky, J., Labrador-Espinosa, M.A., Lopez-Sendon, J.L., Arregui, A.L.D., Macias, D., Torres, I.M., Marin, J., Marti, M.J., Martinez-Castrillo, C., Mendez-del-Barrio, C., Gonzalez, M.M., Mata, M., Minguez, A., Mir, P., Rezola, E.M., Munoz, E., Pagonabarraga, J., Pascual-Sedano, B., Pastor, P., Errazquin, F.P., Perinan-Tocino, T., Ruiz-Martinez, J., Ruz, C., Rodriguez, A.S., Sierra, M., Suarez-Sanmartin, E., Tabernero, C., Tartari, J.P., Tejera-Parrado, C., Valldeoriola, F., Vargas-Gonzalez, L., Vela, L., Vives, F., Zimprich, A., Pihlstrom, L., Toft, M., Koks, S., Taba, P., Hassin-Baer, S., Malagelada, C., Int Parkinson's Dis Genomics Conso
Publikováno v:
Mov Disord
Movement disorders 34(9), 1333-1344 (2019). doi:10.1002/mds.27770
Digital.CSIC. Repositorio Institucional del CSIC
instname
Movement Disorders, 34(9), 1333-1344
MOVEMENT DISORDERS
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Movement disorders 34(9), 1333-1344 (2019). doi:10.1002/mds.27770
Digital.CSIC. Repositorio Institucional del CSIC
instname
Movement Disorders, 34(9), 1333-1344
MOVEMENT DISORDERS
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Special Issue: Focused Ultrasound in Parkinson's Disease.
[Background] Single nucleotide polymorphisms (SNPs) in the α‐synuclein (SNCA ) gene are associated with differential risk and age at onset (AAO) of both idiopathic and Leucine‐rich r
[Background] Single nucleotide polymorphisms (SNPs) in the α‐synuclein (SNCA ) gene are associated with differential risk and age at onset (AAO) of both idiopathic and Leucine‐rich r
Autor:
Ludger Schöls, Stephan Gierer, Stephan Züchner, Claudia Schulte, Matthis Synofzik, Rebecca Schüle, Dietmar Rudolf Thal
Publikováno v:
International Journal of Molecular Sciences
International journal of molecular sciences 16(10), 25050-25066 (2015). doi:10.3390/ijms161025050
Volume 16
Issue 10
Pages 25050-25066
International Journal of Molecular Sciences, Vol 16, Iss 10, Pp 25050-25066 (2015)
International journal of molecular sciences 16(10), 25050-25066 (2015). doi:10.3390/ijms161025050
Volume 16
Issue 10
Pages 25050-25066
International Journal of Molecular Sciences, Vol 16, Iss 10, Pp 25050-25066 (2015)
Mutations in the SPG7 gene are the most frequent cause of autosomal recessive hereditary spastic paraplegias and spastic ataxias. Ala510Val is the most common SPG7 mutation, with a frequency of up to 1% in the general population. Here we report the c