Zobrazeno 1 - 10
of 26
pro vyhledávání: '"genetics [Intercellular Signaling Peptides and Proteins]"'
Autor:
Suzanne S. M. Miedema, Merel O. Mol, Frank T. W. Koopmans, David C. Hondius, Pim van Nierop, Kevin Menden, Christina F. de Veij Mestdagh, Jeroen van Rooij, Andrea B. Ganz, Iryna Paliukhovich, Shamiram Melhem, Ka Wan Li, Henne Holstege, Patrizia Rizzu, Ronald E. van Kesteren, John C. van Swieten, Peter Heutink, August B. Smit
Publikováno v:
Acta Neuropathologica Communications, 10:100, 1-20. BioMed Central
Acta Neuropathologica Communications 10, 100 (2022). doi:10.1186/s40478-022-01387-8
Acta neuropathologica communications, 10(1):100. BioMed Central
Miedema, S S M, Mol, M O, Koopmans, F T W, Hondius, D C, van Nierop, P, Menden, K, de Veij Mestdagh, C F, van Rooij, J, Ganz, A B, Paliukhovich, I, Melhem, S, Li, K W, Holstege, H, Rizzu, P, van Kesteren, R E, van Swieten, J C, Heutink, P & Smit, A B 2022, ' Distinct cell type-specific protein signatures in GRN and MAPT genetic subtypes of frontotemporal dementia ', Acta neuropathologica communications, vol. 10, no. 1, 100 . https://doi.org/10.1186/s40478-022-01387-8
Miedema, S S M, Mol, M O, Koopmans, F T W, Hondius, D C, van Nierop, P, Menden, K, de Veij Mestdagh, C F, van Rooij, J, Ganz, A B, Paliukhovich, I, Melhem, S, Li, K W, Holstege, H, Rizzu, P, van Kesteren, R E, van Swieten, J C, Heutink, P & Smit, A B 2022, ' Distinct cell type-specific protein signatures in GRN and MAPT genetic subtypes of frontotemporal dementia ', Acta Neuropathologica Communications, vol. 10, 100, pp. 1-20 . https://doi.org/10.1186/s40478-022-01387-8
Acta neuropathologica communications, 10(1):100. BioMed Central Ltd.
Acta Neuropathologica Communications 10, 100 (2022). doi:10.1186/s40478-022-01387-8
Acta neuropathologica communications, 10(1):100. BioMed Central
Miedema, S S M, Mol, M O, Koopmans, F T W, Hondius, D C, van Nierop, P, Menden, K, de Veij Mestdagh, C F, van Rooij, J, Ganz, A B, Paliukhovich, I, Melhem, S, Li, K W, Holstege, H, Rizzu, P, van Kesteren, R E, van Swieten, J C, Heutink, P & Smit, A B 2022, ' Distinct cell type-specific protein signatures in GRN and MAPT genetic subtypes of frontotemporal dementia ', Acta neuropathologica communications, vol. 10, no. 1, 100 . https://doi.org/10.1186/s40478-022-01387-8
Miedema, S S M, Mol, M O, Koopmans, F T W, Hondius, D C, van Nierop, P, Menden, K, de Veij Mestdagh, C F, van Rooij, J, Ganz, A B, Paliukhovich, I, Melhem, S, Li, K W, Holstege, H, Rizzu, P, van Kesteren, R E, van Swieten, J C, Heutink, P & Smit, A B 2022, ' Distinct cell type-specific protein signatures in GRN and MAPT genetic subtypes of frontotemporal dementia ', Acta Neuropathologica Communications, vol. 10, 100, pp. 1-20 . https://doi.org/10.1186/s40478-022-01387-8
Acta neuropathologica communications, 10(1):100. BioMed Central Ltd.
Frontotemporal dementia is characterized by progressive atrophy of frontal and/or temporal cortices at an early age of onset. The disorder shows considerable clinical, pathological, and genetic heterogeneity. Here we investigated the proteomic signat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::16ed3f5c28d1f7163a6a79c1cdeb0f90
https://pure.eur.nl/en/publications/0bf4ae4a-7b76-48e9-a5b6-f7b814f744c3
https://pure.eur.nl/en/publications/0bf4ae4a-7b76-48e9-a5b6-f7b814f744c3
Autor:
Martin H. Schludi, Markus Damme, Wolfgang Wurst, Matthias Brendel, Dieter Edbauer, Katrin Fellerer, Anja Capell, Benedikt Wefers, Johannes Gnörich, Georg Werner, Christian Haass, Karin Wind
Publikováno v:
EMBO reports 21(10), 19 (2020). doi:10.15252/embr.202050241
EMBO Reports
EMBO Rep. 21:e50241 (2020)
EMBO Reports
EMBO Rep. 21:e50241 (2020)
Single nucleotide polymorphisms (SNPs) in TMEM106B encoding the lysosomal type II transmembrane protein 106B increase the risk for frontotemporal lobar degeneration (FTLD) of GRN (progranulin gene) mutation carriers. Currently, it is unclear if progr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df22da9d1bf1034c18000cc5bb17bb30
https://pub.dzne.de/record/154374
https://pub.dzne.de/record/154374
Autor:
Javier Rueda-Carrasco, Paula Garcia-Esparcia, Inmaculada Crespo, José A. Esteban, Juan Fortea, Pilar Esteve, José M. Valpuesta, Alberto Lleó, Guadalupe Pereyra, Estrella Gómez-Tortosa, María Jesús Martín-Bermejo, Isidro Ferrer, Mercedes Domínguez, Jonathan E. Draffin, Paola Bovolenta, Inmaculada Moreno, Daniel Alcolea, Alberto Rábano, Ester Aso, África Sandonís, Michael T. Heneka, María Inés Mateo
Publikováno v:
Digital.CSIC. Repositorio Institucional del CSIC
instname
Nature reviews / Neuroscience 22(8), 1258-1268 (2019). doi:10.1038/s41593-019-0432-1
NATURE NEUROSCIENCE
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Nature reviews / Neuroscience 22(8), 1258-1268 (2019). doi:10.1038/s41593-019-0432-1
NATURE NEUROSCIENCE
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
The deposition of aggregated amyloid-β peptides derived from the pro-amyloidogenic processing of the amyloid precurson protein (APP) into characteristic amyloid plaques (APs) is distinctive to Alzheimer’s disease (AD). Alternative APP processing v
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21a0f9a5692c67f30d39b2f9105c61ff
http://hdl.handle.net/10261/193936
http://hdl.handle.net/10261/193936
Autor:
Martin Balastik, Eran Perlson, Romana Weissova, Roy Maimon, Thomas Misgeld, Tomas Petrasek, Marie Kleisnerova, Radislav Sedlacek, Jakub Ziak, Barbora Pukajova, Monika S. Brill, Mengzhe Wang, Xunlei Zhou, Ales Stuchlik, Gonzalo Alvarez-Bolado, Petr Kasparek, Kateřina Jeřábková, Martina Janikova
Publikováno v:
EMBO reports 21(3), e48512 (2020). doi:10.15252/embr.201948512
EMBO Rep
EMBO Rep
Regulation of axon guidance and pruning of inappropriate synapses by class 3 semaphorins is key to development of neural circuits. Collapsin response mediator protein 2 (CRMP2) has been shown to regulate axon guidance by mediating Semaphorin 3A (Sema
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a56216d97953369ea91f656705aad9e2
https://doi.org/10.1101/719617
https://doi.org/10.1101/719617
Autor:
Julia K, Götzl, Alessio-Vittorio, Colombo, Katrin, Fellerer, Anika, Reifschneider, Georg, Werner, Sabina, Tahirovic, Christian, Haass, Anja, Capell
Publikováno v:
Molecular neurodegeneration 13(1), 48 (2018). doi:10.1186/s13024-018-0281-5
Molecular Neurodegeneration, Vol 13, Iss 1, Pp 1-16 (2018)
Molecular Neurodegeneration
Molecular Neurodegeneration, Vol 13, Iss 1, Pp 1-16 (2018)
Molecular Neurodegeneration
Background Heterozygous loss-of-function mutations in the progranulin gene (GRN) lead to frontotemporal lobar degeneration (FTLD) while the complete loss of progranulin (PGRN) function results in neuronal ceroid lipofuscinosis (NCL), a lysosomal stor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::efc2fc4bd082bd4487491cd046237809
Publikováno v:
Der Nervenarzt 88(7), 728-735 (2017). doi:10.1007/s00115-017-0349-4
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) overlap not only clinically, but also with respect to shared neuropathology and genes. A large number of novel genes has recently been identified which underlie both diseases, e. g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::0ecbd0baf05c772cfe0cd3d8bb01be49
https://pubmed.ncbi.nlm.nih.gov/28573364
https://pubmed.ncbi.nlm.nih.gov/28573364
Autor:
Davidson, Yvonne S, Flood, Louis, Pickering-Brown, Stuart, Haass, Christian, Lashley, Tammaryn, Mann, David M A, Robinson, Andrew C, Nihei, Yoshihiro, Mori, Kohji, Rollinson, Sara, Richardson, Anna, Benson, Bridget C, Jones, Matthew, Snowden, Julie S
Publikováno v:
Acta Neuropathologica Communications
Davidson, Y S, Flood, L, Robinson, A C, Nihei, Y, Mori, K, Rollinson, S, Richardson, A, Benson, B C, Jones, M, Snowden, J S, Pickering-Brown, S, Haass, C, Lashley, T & Mann, D M A 2017, ' Heterogeneous ribonuclear protein A3 (hnRNP A3) is present in dipeptide repeat protein containing inclusions in Frontotemporal Lobar Degeneration and Motor Neurone disease associated with expansions in C9orf72 gene ', Acta Neuropathologica Communications, vol. 5, no. 1, pp. 31 . https://doi.org/10.1186/s40478-017-0437-5
Acta Neuropathologica Communications, Vol 5, Iss 1, Pp 1-10 (2017)
Acta Neuropathologica Communications 5(1), 31 (2017). doi:10.1186/s40478-017-0437-5
Davidson, Y S, Flood, L, Robinson, A C, Nihei, Y, Mori, K, Rollinson, S, Richardson, A, Benson, B C, Jones, M, Snowden, J S, Pickering-Brown, S, Haass, C, Lashley, T & Mann, D M A 2017, ' Heterogeneous ribonuclear protein A3 (hnRNP A3) is present in dipeptide repeat protein containing inclusions in Frontotemporal Lobar Degeneration and Motor Neurone disease associated with expansions in C9orf72 gene ', Acta Neuropathologica Communications, vol. 5, no. 1, pp. 31 . https://doi.org/10.1186/s40478-017-0437-5
Acta Neuropathologica Communications, Vol 5, Iss 1, Pp 1-10 (2017)
Acta Neuropathologica Communications 5(1), 31 (2017). doi:10.1186/s40478-017-0437-5
Frontotemporal Lobar Degeneration (FTLD) encompasses certain related neurodegenerative disorders which alter behaviour, personality and language. Heterogeneous ribonuclear proteins (hnRNPs) maintain RNA metabolism and changes in their function may un
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::865e38f2c4fce117b6ab219af136180d
https://pubmed.ncbi.nlm.nih.gov/28431575
https://pubmed.ncbi.nlm.nih.gov/28431575
Autor:
Wilke, Carlo, Gillardon, Frank, Deuschle, Christian, Hobert, Markus A., Jansen, Iris E., Metzger, Florian G., Heutink, Peter, Gasser, Thomas, Maetzler, Walter, Blauwendraat, Cornelis, Synofzik, Matthis
Publikováno v:
Neurodegenerative Diseases, 17(2-3), 83-88. S. Karger AG
Neurodegenerative diseases 17(2-3), 83-88 (2016). doi:10.1159/000448896
Wilke, C, Gillardon, F, Deuschle, C, Hobert, M A, Jansen, I E, Metzger, F G, Heutink, P, Gasser, T, Maetzler, W, Blauwendraat, C & Synofzik, M 2017, ' Cerebrospinal Fluid Progranulin, but Not Serum Progranulin, Is Reduced in GRN-Negative Frontotemporal Dementia ', Neurodegenerative Diseases, vol. 17, no. 2-3, pp. 83-88 . https://doi.org/10.1159/000448896
Neurodegenerative diseases 17(2-3), 83-88 (2016). doi:10.1159/000448896
Wilke, C, Gillardon, F, Deuschle, C, Hobert, M A, Jansen, I E, Metzger, F G, Heutink, P, Gasser, T, Maetzler, W, Blauwendraat, C & Synofzik, M 2017, ' Cerebrospinal Fluid Progranulin, but Not Serum Progranulin, Is Reduced in GRN-Negative Frontotemporal Dementia ', Neurodegenerative Diseases, vol. 17, no. 2-3, pp. 83-88 . https://doi.org/10.1159/000448896
Background and Objective: Reduced progranulin levels are a hallmark of frontotemporal dementia (FTD) caused by loss-of-function (LoF) mutations in the progranulin gene (GRN). However, alterations of central nervous progranulin expression also occur i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::ba7f66d06568870d5a3f42ccd82c39a8
https://research.vumc.nl/en/publications/9ed95381-38b5-4de0-b0c0-bcd7f109eb31
https://research.vumc.nl/en/publications/9ed95381-38b5-4de0-b0c0-bcd7f109eb31
Autor:
George Dedoussis, Rui Li, Elaine G.Y. Chew, George Papanikolaou, Tim D. Spector, David A. Hinds, Susanne Moebus, Asif Javed, Dale R. Nyholt, Axel M. Hillmer, Gérard Waeber, Zoltán Kutalik, Nicholas G. Martin, Michael P. Philpott, Lara M. Hochfeld, Tessel E. Galesloot, Xiu Ting Heng, Rico Rueedi, Thomas Anhalt, Markus M. Nöthen, Dmitriy Drichel, Michael Nothnagel, Stavroula Kanoni, Ralf Paus, Lambertus A. Kiemeney, Christine Herold, Stefanie Heilmann-Heimbach, J. Brent Richards, Tim Becker, Panos Deloukas, Peter Vollenweider, Julian Hecker, Sonali Pechlivanis, Ricardo C.H. del Rosario, Heide Loehlein Fier, Shyam Prabhakar
Publikováno v:
Heilmann-Heimbach, S, Herold, C, Hochfeld, L M, Hillmer, A M, Nyholt, D R, Hecker, J, Javed, A, Chew, E G Y, Pechlivanis, S, Drichel, D, Heng, X T, Del Rosario, R C H, Fier, H L, Paus, R, Rueedi, R, Galesloot, T E, Moebus, S, Anhalt, T, Prabhakar, S, Li, R, Kanoni, S, Papanikolaou, G, Kutalik, Z, Deloukas, P, Philpott, M P, Waeber, G, Spector, T D, Vollenweider, P, Kiemeney, L A L M, Dedoussis, G, Richards, J B, Nothnagel, M, Martin, N G, Becker, T, Hinds, D A & Nöthen, M M 2017, ' Meta-analysis identifies novel risk loci and yields systematic insights into the biology of male-pattern baldness ', Nature Communications, vol. 8, 14694 . https://doi.org/10.1038/ncomms14694
Nature Communications, Vol 8, Iss 1, Pp 1-8 (2017)
Nature Communications 8(1), 14694 (2017). doi:10.1038/ncomms14694
Nature Communications
Nature Communications, 8, 14694
Nature Communications, 8, pp. 14694
Nature communications, vol. 8, pp. 14694
Nature Communications, Vol 8, Iss 1, Pp 1-8 (2017)
Nature Communications 8(1), 14694 (2017). doi:10.1038/ncomms14694
Nature Communications
Nature Communications, 8, 14694
Nature Communications, 8, pp. 14694
Nature communications, vol. 8, pp. 14694
Male-pattern baldness (MPB) is a common and highly heritable trait characterized by androgen-dependent, progressive hair loss from the scalp. Here, we carry out the largest GWAS meta-analysis of MPB to date, comprising 10,846 early-onset cases and 11
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c457dad93623b5473179a9e54aca6e3
https://doi.org/10.1038/ncomms14694
https://doi.org/10.1038/ncomms14694
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