| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Oana C Marian, Jonathan D Teo, Jun Yup Lee, Huitong Song, John B Kwok, Ramon Landin-Romero, Glenda Halliday, Anthony S Do. Disrupted myelin lipid metabolism differentiates frontotemporal dementia caused by GRN and C9orf72 gene mutations. Acta neuropathologica communications. vol 11. issue 1. 2023-03-26. PMID:36967384. |
heterozygous mutations in the grn gene and hexanucleotide repeat expansions in c9orf72 are the two most common genetic causes of frontotemporal dementia (ftd) with tdp-43 protein inclusions. |
2023-03-26 |
2023-08-14 |
mouse |
| Aurélie Bussy, Jake P Levy, Tristin Best, Raihaan Patel, Lani Cupo, Tim Van Langenhove, Jørgen E Nielsen, Yolande Pijnenburg, Maria Landqvist Waldö, Anne M Remes, Matthias L Schroeter, Isabel Santana, Florence Pasquier, Markus Otto, Adrian Danek, Johannes Levin, Isabelle Le Ber, Rik Vandenberghe, Matthis Synofzik, Fermin Moreno, Alexandre de Mendonça, Raquel Sanchez-Valle, Robert Laforce, Tobias Langheinrich, Alexander Gerhard, Caroline Graff, Chris R Butler, Sandro Sorbi, Lize Jiskoot, Harro Seelaar, John C van Swieten, Elizabeth Finger, Maria Carmela Tartaglia, Mario Masellis, Pietro Tiraboschi, Daniela Galimberti, Barbara Borroni, James B Rowe, Martina Bocchetta, Jonathan D Rohrer, Gabriel A Devenyi, M Mallar Chakravarty, Simon Ducharm. Cerebellar and subcortical atrophy contribute to psychiatric symptoms in frontotemporal dementia. Human brain mapping. 2023-03-10. PMID:36895129. |
recent studies have reported early cerebellar and subcortical impact in the disease progression of genetic frontotemporal dementia (ftd) due to microtubule-associated protein tau (mapt), progranulin (grn) and chromosome 9 open reading frame 72 (c9orf72). |
2023-03-10 |
2023-08-14 |
human |
| Denise M Smith, Michael L Niehoff, Karen Ling, Paymaan Jafar-Nejad, Frank Rigo, Susan A Farr, Miles F Wilkinson, Andrew D Nguye. Targeting nonsense-mediated RNA decay does not increase progranulin levels in the Grn R493X mouse model of frontotemporal dementia. PloS one. vol 18. issue 3. 2023-03-09. PMID:36893203. |
targeting nonsense-mediated rna decay does not increase progranulin levels in the grn r493x mouse model of frontotemporal dementia. |
2023-03-09 |
2023-08-14 |
mouse |
| Denise M Smith, Michael L Niehoff, Karen Ling, Paymaan Jafar-Nejad, Frank Rigo, Susan A Farr, Miles F Wilkinson, Andrew D Nguye. Targeting nonsense-mediated RNA decay does not increase progranulin levels in the Grn R493X mouse model of frontotemporal dementia. PloS one. vol 18. issue 3. 2023-03-09. PMID:36893203. |
a common cause of frontotemporal dementia (ftd) are nonsense mutations in the progranulin (grn) gene. |
2023-03-09 |
2023-08-14 |
mouse |
| Martina de Majo, Mark Koontz, Elise Marsan, Nir Salinas, Arren Ramsey, Yien-Ming Kuo, Kyounghee Seo, Huinan Li, Nina Dräger, Kun Leng, Santiago L Gonzales, Michael Kurnellas, Yuichiro Miyaoka, Joseph R Klim, Martin Kampmann, Michael E Ward, Eric J Huang, Erik M Ullia. Granulin loss of function in human mature brain organoids implicates astrocytes in TDP-43 pathology. Stem cell reports. 2023-02-24. PMID:36827976. |
loss of function (lof) of tar-dna binding protein 43 (tdp-43) and mis-localization, together with tdp-43-positive and hyperphosphorylated inclusions, are found in post-mortem tissue of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd) patients, including those carrying lof variants in the progranulin gene (grn). |
2023-02-24 |
2023-08-14 |
human |
| Shreya N Kashyap, Nicholas R Boyle, Erik D Roberso. Preclinical Interventions in Mouse Models of Frontotemporal Dementia Due to Progranulin Mutations. Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics. 2023-02-13. PMID:36781744. |
heterozygous loss-of-function mutations in progranulin (grn) cause frontotemporal dementia (ftd), a leading cause of early-onset dementia characterized clinically by behavioral, social, and language deficits. |
2023-02-13 |
2023-08-14 |
mouse |
| Hong-Rong Cheng, Rong-Rong Lin, Hong-Lei Li, Yan-Yan Xue, Pei-Rong Gao, Dian-Fu Chen, Qing-Qing Tao, Zhi-Ying W. Identification and functional characterization of novel variants of MAPT and GRN in Chinese patients with frontotemporal dementia. Neurobiology of aging. 2023-01-14. PMID:36641371. |
identification and functional characterization of novel variants of mapt and grn in chinese patients with frontotemporal dementia. |
2023-01-14 |
2023-08-14 |
Not clear |
| Elise Marsan, Dmitry Velmeshev, Arren Ramsey, Ravi K Patel, Jiasheng Zhang, Mark Koontz, Madeline G Andrews, Martina de Majo, Cristina Mora, Jessica Blumenfeld, Alissa N Li, Salvatore Spina, Lea T Grinberg, William Seeley, Bruce L Miller, Erik M Ullian, Matthew F Krummel, Arnold Kriegstein, Eric J Huan. Astroglial toxicity promotes synaptic degeneration in the thalamocortical circuit in frontotemporal dementia with GRN mutations. The Journal of clinical investigation. 2023-01-05. PMID:36602862. |
astroglial toxicity promotes synaptic degeneration in the thalamocortical circuit in frontotemporal dementia with grn mutations. |
2023-01-05 |
2023-08-14 |
mouse |
| Jolien Perneel, Manuela Neumann, Bavo Heeman, Simon Cheung, Marleen Van den Broeck, Sarah Wynants, Matt Baker, Cristina T Vicente, Júlia Faura, Rosa Rademakers, Ian R A Mackenzi. Accumulation of TMEM106B C-terminal fragments in neurodegenerative disease and aging. Acta neuropathologica. 2022-12-17. PMID:36527486. |
genetic variation in tmem106b is known to influence the risk and presentation of several neurodegenerative diseases, especially frontotemporal dementia (ftd) caused by mutations in the progranulin gene (grn). |
2022-12-17 |
2023-08-14 |
human |
| Sebastian Boland, Sharan Swarup, Yohannes A Ambaw, Pedro C Malia, Ruth C Richards, Alexander W Fischer, Shubham Singh, Geetika Aggarwal, Salvatore Spina, Alissa L Nana, Lea T Grinberg, William W Seeley, Michal A Surma, Christian Klose, Joao A Paulo, Andrew D Nguyen, J Wade Harper, Tobias C Walther, Robert V Fares. Deficiency of the frontotemporal dementia gene GRN results in gangliosidosis. Nature communications. vol 13. issue 1. 2022-10-07. PMID:36207292. |
deficiency of the frontotemporal dementia gene grn results in gangliosidosis. |
2022-10-07 |
2023-08-14 |
human |
| Sebastian Boland, Sharan Swarup, Yohannes A Ambaw, Pedro C Malia, Ruth C Richards, Alexander W Fischer, Shubham Singh, Geetika Aggarwal, Salvatore Spina, Alissa L Nana, Lea T Grinberg, William W Seeley, Michal A Surma, Christian Klose, Joao A Paulo, Andrew D Nguyen, J Wade Harper, Tobias C Walther, Robert V Fares. Deficiency of the frontotemporal dementia gene GRN results in gangliosidosis. Nature communications. vol 13. issue 1. 2022-10-07. PMID:36207292. |
haploinsufficiency of grn causes frontotemporal dementia (ftd). |
2022-10-07 |
2023-08-14 |
human |
| Aitana Sogorb-Esteve, Johanna Nilsson, Imogen J Swift, Carolin Heller, Martina Bocchetta, Lucy L Russell, Georgia Peakman, Rhian S Convery, John C van Swieten, Harro Seelaar, Barbara Borroni, Daniela Galimberti, Raquel Sanchez-Valle, Robert Laforce, Fermin Moreno, Matthis Synofzik, Caroline Graff, Mario Masellis, Maria Carmela Tartaglia, James B Rowe, Rik Vandenberghe, Elizabeth Finger, Fabrizio Tagliavini, Isabel Santana, Chris R Butler, Simon Ducharme, Alexander Gerhard, Adrian Danek, Johannes Levin, Markus Otto, Sandro Sorbi, Isabelle Le Ber, Florence Pasquier, Johan Gobom, Ann Brinkmalm, Kaj Blennow, Henrik Zetterberg, Jonathan D Rohre. Differential impairment of cerebrospinal fluid synaptic biomarkers in the genetic forms of frontotemporal dementia. Alzheimer's research & therapy. vol 14. issue 1. 2022-08-31. PMID:36045450. |
approximately a third of frontotemporal dementia (ftd) is genetic with mutations in three genes accounting for most of the inheritance: c9orf72, grn, and mapt. |
2022-08-31 |
2023-08-14 |
Not clear |
| Paolo Reho, Shunsuke Koga, Zalak Shah, Ruth Chia, Rosa Rademakers, Clifton L Dalgard, Bradley F Boeve, Thomas G Beach, Dennis W Dickson, Owen A Ross, Sonja W Schol. GRN Mutations Are Associated with Lewy Body Dementia. Movement disorders : official journal of the Movement Disorder Society. 2022-07-10. PMID:35810449. |
loss-of-function mutations in grn are a cause of familial frontotemporal dementia, and common variants within the gene have been associated with an increased risk of developing alzheimer's disease and parkinson's disease. |
2022-07-10 |
2023-08-14 |
Not clear |
| 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 Smi. Distinct cell type-specific protein signatures in GRN and MAPT genetic subtypes of frontotemporal dementia. Acta neuropathologica communications. vol 10. issue 1. 2022-07-07. PMID:35799292. |
distinct cell type-specific protein signatures in grn and mapt genetic subtypes of frontotemporal dementia. |
2022-07-07 |
2023-08-14 |
Not clear |
| 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 Smi. Distinct cell type-specific protein signatures in GRN and MAPT genetic subtypes of frontotemporal dementia. Acta neuropathologica communications. vol 10. issue 1. 2022-07-07. PMID:35799292. |
here we investigated the proteomic signatures of frontal and temporal cortex from brains with frontotemporal dementia due to grn and mapt mutations to identify the key cell types and molecular pathways in their pathophysiology. |
2022-07-07 |
2023-08-14 |
Not clear |
| Arabella Bouzigues, Lucy L Russell, Georgia Peakman, Martina Bocchetta, Caroline V Greaves, Rhian S Convery, Emily Todd, James B Rowe, Barbara Borroni, Daniela Galimberti, Pietro Tiraboschi, Mario Masellis, Maria Carmela Tartaglia, Elizabeth Finger, John C van Swieten, Harro Seelaar, Lize Jiskoot, Sandro Sorbi, Chris R Butler, Caroline Graff, Alexander Gerhard, Tobias Langheinrich, Robert Laforce, Raquel Sanchez-Valle, Alexandre de Mendonça, Fermin Moreno, Matthis Synofzik, Rik Vandenberghe, Simon Ducharme, Isabelle Le Ber, Johannes Levin, Adrian Danek, Markus Otto, Florence Pasquier, Isabel Santana, Jonathan D Rohre. Anomia is present pre-symptomatically in frontotemporal dementia due to MAPT mutations. Journal of neurology. 2022-03-29. PMID:35348856. |
a third of frontotemporal dementia (ftd) is caused by an autosomal-dominant genetic mutation in one of three genes: microtubule-associated protein tau (mapt), chromosome 9 open reading frame 72 (c9orf72) and progranulin (grn). |
2022-03-29 |
2023-08-13 |
Not clear |
| Stefano Gazzina, Mario Grassi, Enrico Premi, Antonella Alberici, Alberto Benussi, Silvana Archetti, Roberto Gasparotti, Martina Bocchetta, David M Cash, Emily G Todd, Georgia Peakman, Rhian S Convery, John C van Swieten, Lize C Jiskoot, Harro Seelaar, Raquel Sanchez-Valle, Fermin Moreno, Robert Laforce, Caroline Graff, Matthis Synofzik, Daniela Galimberti, James B Rowe, Mario Masellis, Maria Carmela Tartaglia, Elizabeth Finger, Rik Vandenberghe, Alexandre de Mendonça, Fabrizio Tagliavini, Chris R Butler, Isabel Santana, Alexander Gerhard, Isabelle Le Ber, Florence Pasquier, Simon Ducharme, Johannes Levin, Adrian Danek, Sandro Sorbi, Markus Otto, Jonathan D Rohrer, Barbara Borron. Structural brain splitting is a hallmark of Granulin-related frontotemporal dementia. Neurobiology of aging. 2022-03-27. PMID:35339292. |
frontotemporal dementia associated with granulin (grn) mutations presents asymmetric brain atrophy. |
2022-03-27 |
2023-08-13 |
Not clear |
| Stefano Gazzina, Mario Grassi, Enrico Premi, Antonella Alberici, Alberto Benussi, Silvana Archetti, Roberto Gasparotti, Martina Bocchetta, David M Cash, Emily G Todd, Georgia Peakman, Rhian S Convery, John C van Swieten, Lize C Jiskoot, Harro Seelaar, Raquel Sanchez-Valle, Fermin Moreno, Robert Laforce, Caroline Graff, Matthis Synofzik, Daniela Galimberti, James B Rowe, Mario Masellis, Maria Carmela Tartaglia, Elizabeth Finger, Rik Vandenberghe, Alexandre de Mendonça, Fabrizio Tagliavini, Chris R Butler, Isabel Santana, Alexander Gerhard, Isabelle Le Ber, Florence Pasquier, Simon Ducharme, Johannes Levin, Adrian Danek, Sandro Sorbi, Markus Otto, Jonathan D Rohrer, Barbara Borron. Structural brain splitting is a hallmark of Granulin-related frontotemporal dementia. Neurobiology of aging. 2022-03-27. PMID:35339292. |
we included 52 symptomatic grn mutation carriers (sc), 161 presymptomatic grn mutation carriers (psc) and 341 non-carriers relatives from the genetic frontotemporal dementia research initiative cohort. |
2022-03-27 |
2023-08-13 |
Not clear |
| Francesca De Giorgi, Muhammed Bilal Abdul-Shukkoor, Marianna Kashyrina, Leslie-Ann Largitte, Francesco De Nuccio, Brice Kauffmann, Alons Lends, Florent Laferrière, Sébastien Bonhommeau, Dario Domenico Lofrumento, Luc Bousset, Erwan Bezard, Thierry Buffeteau, Antoine Loquet, François Icha. Neurons with Cat's Eyes: A Synthetic Strain of α-Synuclein Fibrils Seeding Neuronal Intranuclear Inclusions. Biomolecules. vol 12. issue 3. 2022-03-25. PMID:35327628. |
in contrast to the lentiform tdp-43 niis, which are observed in certain frontotemporal dementias and which are conditional upon grn or vcp mutations, our data support the hypothesis that the presence of α-syn niis in msa is instead purely amyloid-strain-dependent. |
2022-03-25 |
2023-08-13 |
mouse |
| Enrico Premi, Marcello Giunta, Armin Iraji, Srinivas Rachakonda, Vince D Calhoun, Stefano Gazzina, Alberto Benussi, Roberto Gasparotti, Silvana Archetti, Martina Bocchetta, Dave Cash, Emily Todd, Georgia Peakman, Rhian Convery, John C van Swieten, Lize Jiskoot, Raquel Sanchez-Valle, Fermin Moreno, Robert Laforce, Caroline Graff, Matthis Synofzik, Daniela Galimberti, James B Rowe, Mario Masellis, Carmela Tartaglia, Elizabeth Finger, Rik Vandenberghe, Alexandre de Mendonça, Fabrizio Tagliavini, Chris R Butler, Isabel Santana, Alexander Gerhard, Isabelle Le Ber, Florence Pasquier, Simon Ducharme, Johannes Levin, Adrian Danek, Sandro Sorbi, Markus Otto, Jonathan D Rohrer, Barbara Borron. Dissemination in time and space in presymptomatic granulin mutation carriers: a GENFI spatial chronnectome study. Neurobiology of aging. vol 108. 2021-11-24. PMID:34607248. |
the presymptomatic brain changes of granulin (grn) disease, preceding by years frontotemporal dementia, has not been fully characterized. |
2021-11-24 |
2023-08-13 |
Not clear |