| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Marina Picillo, Emilia Vitale, Antonella Rendina, Aldo Donizetti, Vincenza Aliperti, Maria Francesca Tepedino, Giovanna Dati, Monia Ginevrino, Enza Maria Valente, Paolo Baron. Clinical and Molecular Characterization of a Novel Progranulin Deletion Associated with Different Phenotypes. Journal of Alzheimer's disease : JAD. vol 76. issue 1. 2021-05-07. PMID:32474471. |
mutations in the grn gene are causative for an autosomal dominant form of frontotemporal dementia. |
2021-05-07 |
2023-08-13 |
Not clear |
| Emma L Clayton, Adrian M Isaac. Progranulin and TMEM106B: when two become wan. EMBO reports. vol 21. issue 10. 2021-04-27. PMID:32985120. |
mutations in grn, which encodes progranulin, are a common cause of familial frontotemporal dementia (ftd). |
2021-04-27 |
2023-08-13 |
mouse |
| Jonathan D Rohrer, Adam L Boxe. The Frontotemporal Dementia Prevention Initiative: Linking Together Genetic Frontotemporal Dementia Cohort Studies. Advances in experimental medicine and biology. vol 1281. 2021-02-15. PMID:33433872. |
around one-third of frontotemporal dementia (ftd) is autosomal dominant with the major genetic causes being mutations in mapt, grn and c9orf72. |
2021-02-15 |
2023-08-13 |
human |
| Maria A Telpoukhovskaia, Kai Liu, Faten A Sayed, Jon Iker Etchegaray, Min Xie, Lihong Zhan, Yaqiao Li, Yungui Zhou, David Le, Ben A Bahr, Matthew Bogyo, Sheng Ding, Li Ga. Discovery of small molecules that normalize the transcriptome and enhance cysteine cathepsin activity in progranulin-deficient microglia. Scientific reports. vol 10. issue 1. 2021-01-11. PMID:32792571. |
patients with frontotemporal dementia (ftd) resulting from granulin (grn) haploinsufficiency have reduced levels of progranulin and exhibit dysregulation in inflammatory and lysosomal networks. |
2021-01-11 |
2023-08-13 |
mouse |
| Adam M Staffaroni, Sheng-Yang M Goh, Yann Cobigo, Elise Ong, Suzee E Lee, Kaitlin B Casaletto, Amy Wolf, Leah K Forsberg, Nupur Ghoshal, Neill R Graff-Radford, Murray Grossman, Hilary W Heuer, Ging-Yuek R Hsiung, Kejal Kantarci, David S Knopman, Walter K Kremers, Ian R Mackenzie, Bruce L Miller, Otto Pedraza, Katya Rascovsky, M Carmela Tartaglia, Zbigniew K Wszolek, Joel H Kramer, John Kornak, Bradley F Boeve, Adam L Boxer, Howard J Rose. Rates of Brain Atrophy Across Disease Stages in Familial Frontotemporal Dementia Associated With MAPT, GRN, and C9orf72 Pathogenic Variants. JAMA network open. vol 3. issue 10. 2021-01-04. PMID:33112398. |
rates of brain atrophy across disease stages in familial frontotemporal dementia associated with mapt, grn, and c9orf72 pathogenic variants. |
2021-01-04 |
2023-08-13 |
Not clear |
| Dario Saracino, Leila Sellami, Fabienne Clot, Agnès Camuzat, Foudil Lamari, Benoît Rucheton, Imen Benyounes, Carole Roué-Jagot, Julien Lagarde, Marie Sarazin, Ludmila Jornea, Sylvie Forlani, Eric LeGuern, Bruno Dubois, Alexis Brice, Isabelle Le Be. The missense p.Trp7Arg mutation in GRN gene leads to progranulin haploinsufficiency. Neurobiology of aging. vol 85. 2020-09-11. PMID:31262553. |
grn null mutations are among the main genetic causes of frontotemporal dementia through progranulin haploinsufficiency. |
2020-09-11 |
2023-08-13 |
Not clear |
| Anarmaa Mendsaikhan, Ikuo Tooyama, Jean-Pierre Bellier, Geidy E Serrano, Lucia I Sue, Lih-Fen Lue, Thomas G Beach, Douglas G Walke. Characterization of lysosomal proteins Progranulin and Prosaposin and their interactions in Alzheimer's disease and aged brains: increased levels correlate with neuropathology. Acta neuropathologica communications. vol 7. issue 1. 2020-09-11. PMID:31864418. |
a single mutation in the human grn gene resulting in reduced pgrn expression causes types of frontotemporal lobar degeneration resulting in frontotemporal dementia. |
2020-09-11 |
2023-08-13 |
human |
| Andrew E Arrant, Jonathan R Roth, Nicholas R Boyle, Shreya N Kashyap, Madelyn Q Hoffmann, Charles F Murchison, Eliana Marisa Ramos, Alissa L Nana, Salvatore Spina, Lea T Grinberg, Bruce L Miller, William W Seeley, Erik D Roberso. Impaired β-glucocerebrosidase activity and processing in frontotemporal dementia due to progranulin mutations. Acta neuropathologica communications. vol 7. issue 1. 2020-09-11. PMID:31870439. |
loss-of-function mutations in progranulin (grn) are a major autosomal dominant cause of frontotemporal dementia. |
2020-09-11 |
2023-08-13 |
mouse |
| Andrew E Arrant, Jonathan R Roth, Nicholas R Boyle, Shreya N Kashyap, Madelyn Q Hoffmann, Charles F Murchison, Eliana Marisa Ramos, Alissa L Nana, Salvatore Spina, Lea T Grinberg, Bruce L Miller, William W Seeley, Erik D Roberso. Impaired β-glucocerebrosidase activity and processing in frontotemporal dementia due to progranulin mutations. Acta neuropathologica communications. vol 7. issue 1. 2020-09-11. PMID:31870439. |
most pathogenic grn mutations result in progranulin haploinsufficiency, which is thought to cause frontotemporal dementia in grn mutation carriers. |
2020-09-11 |
2023-08-13 |
mouse |
| Andrew E Arrant, Jonathan R Roth, Nicholas R Boyle, Shreya N Kashyap, Madelyn Q Hoffmann, Charles F Murchison, Eliana Marisa Ramos, Alissa L Nana, Salvatore Spina, Lea T Grinberg, Bruce L Miller, William W Seeley, Erik D Roberso. Impaired β-glucocerebrosidase activity and processing in frontotemporal dementia due to progranulin mutations. Acta neuropathologica communications. vol 7. issue 1. 2020-09-11. PMID:31870439. |
progranulin haploinsufficiency may drive frontotemporal dementia pathogenesis by disrupting lysosomal function, as patients with grn mutations on both alleles develop the lysosomal storage disorder neuronal ceroid lipofuscinosis, and frontotemporal dementia patients with grn mutations (ftd-grn) also accumulate lipofuscin. |
2020-09-11 |
2023-08-13 |
mouse |
| Vincent Huin, Mathieu Barbier, Armand Bottani, Johannes Alexander Lobrinus, Fabienne Clot, Foudil Lamari, Laureen Chat, Benoît Rucheton, Frédérique Fluchère, Stéphane Auvin, Peter Myers, Antoinette Gelot, Agnès Camuzat, Catherine Caillaud, Ludmila Jornéa, Sylvie Forlani, Dario Saracino, Charles Duyckaerts, Alexis Brice, Alexandra Durr, Isabelle Le Be. Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms. Brain : a journal of neurology. vol 143. issue 1. 2020-08-18. PMID:31855245. |
in contrast, heterozygous grn mutations are a major cause of frontotemporal dementia associated with neuronal cytoplasmic tdp-43 inclusions. |
2020-08-18 |
2023-08-13 |
Not clear |
| Emma L van der Ende, Lieke H Meeter, Jackie M Poos, Jessica L Panman, Lize C Jiskoot, Elise G P Dopper, Janne M Papma, Frank Jan de Jong, Inge M W Verberk, Charlotte Teunissen, Dimitris Rizopoulos, Carolin Heller, Rhian S Convery, Katrina M Moore, Martina Bocchetta, Mollie Neason, David M Cash, 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, Alexandre de Mendonça, Isabel Santana, Chris Butler, Simon Ducharme, Alex Gerhard, Adrian Danek, Johannes Levin, Markus Otto, Giovanni B Frisoni, Stefano Cappa, Yolande A L Pijnenburg, Jonathan D Rohrer, John C van Swiete. Serum neurofilament light chain in genetic frontotemporal dementia: a longitudinal, multicentre cohort study. The Lancet. Neurology. vol 18. issue 12. 2020-06-12. PMID:31701893. |
neurofilament light chain (nfl) is a promising blood biomarker in genetic frontotemporal dementia, with elevated concentrations in symptomatic carriers of mutations in grn, c9orf72, and mapt. |
2020-06-12 |
2023-08-13 |
Not clear |
| Giorgio Giulio Fumagalli, Luca Sacchi, Paola Basilico, Andrea Arighi, Tiziana Carandini, Marta Scarioni, Annalisa Colombi, Anna Pietroboni, Laura Ghezzi, Chiara Fenoglio, Maria Serpente, Marianna D'anca, Marina Arcaro, Matteo Mercurio, Fabio Triulzi, Elisa Scola, Giorgio Marotta, Elio Scarpini, Daniela Galimbert. Monozygotic Twins with Frontotemporal Dementia Due To Thr272fs GRN Mutation Discordant for Age At Onset. Journal of Alzheimer's disease : JAD. vol 67. issue 4. 2020-05-27. PMID:30689572. |
monozygotic twins with frontotemporal dementia due to thr272fs grn mutation discordant for age at onset. |
2020-05-27 |
2023-08-13 |
Not clear |
| Gamze Guven, Başar Bilgic, Zeynep Tufekcioglu, Nihan Erginel Unaltuna, Hasmet Hanagasi, Hakan Gurvit, Andrew Singleton, John Hardy, Murat Emre, Cagri Gulec, Jose Bras, Rita Guerreiro, Ebba Lohman. Peripheral GRN mRNA and Serum Progranulin Levels as a Potential Indicator for Both the Presence of Splice Site Mutations and Individuals at Risk for Frontotemporal Dementia. Journal of Alzheimer's disease : JAD. vol 67. issue 1. 2020-03-02. PMID:30475763. |
peripheral grn mrna and serum progranulin levels as a potential indicator for both the presence of splice site mutations and individuals at risk for frontotemporal dementia. |
2020-03-02 |
2023-08-13 |
Not clear |
| Gamze Guven, Başar Bilgic, Zeynep Tufekcioglu, Nihan Erginel Unaltuna, Hasmet Hanagasi, Hakan Gurvit, Andrew Singleton, John Hardy, Murat Emre, Cagri Gulec, Jose Bras, Rita Guerreiro, Ebba Lohman. Peripheral GRN mRNA and Serum Progranulin Levels as a Potential Indicator for Both the Presence of Splice Site Mutations and Individuals at Risk for Frontotemporal Dementia. Journal of Alzheimer's disease : JAD. vol 67. issue 1. 2020-03-02. PMID:30475763. |
progranulin (grn) gene mutations are a major cause of frontotemporal dementia (ftd). |
2020-03-02 |
2023-08-13 |
Not clear |
| Suzee E Lee, Ana C Sias, Eena L Kosik, Taru M Flagan, Jersey Deng, Stephanie A Chu, Jesse A Brown, Anna A Vidovszky, Eliana Marisa Ramos, Maria Luisa Gorno-Tempini, Anna M Karydas, Giovanni Coppola, Daniel H Geschwind, Rosa Rademakers, Bradley F Boeve, Adam L Boxer, Howard J Rosen, Bruce L Miller, William W Seele. Thalamo-cortical network hyperconnectivity in preclinical progranulin mutation carriers. NeuroImage. Clinical. vol 22. 2020-01-17. PMID:30921613. |
mutations in progranulin (grn) cause heterogeneous clinical syndromes, including behavioral variant frontotemporal dementia (bvftd), primary progressive aphasia (ppa), corticobasal syndrome (cbs) and alzheimer-type dementia (ad-type dementia). |
2020-01-17 |
2023-08-13 |
mouse |
| Andrew E Arrant, Anthony J Filiano, Aashka R Patel, Madelyn Q Hoffmann, Nicholas R Boyle, Shreya N Kashyap, Vincent C Onyilo, Allen H Young, Erik D Roberso. Reduction of microglial progranulin does not exacerbate pathology or behavioral deficits in neuronal progranulin-insufficient mice. Neurobiology of disease. vol 124. 2019-12-23. PMID:30448285. |
loss-of-function mutations in progranulin (grn), most of which cause progranulin haploinsufficiency, are a major autosomal dominant cause of frontotemporal dementia (ftd). |
2019-12-23 |
2023-08-13 |
mouse |
| Defne A Amado, Julianne M Rieders, Fortunay Diatta, Pilar Hernandez-Con, Adina Singer, Jordan T Mak, Junxian Zhang, Eric Lancaster, Beverly L Davidson, Alice S Chen-Plotki. AAV-Mediated Progranulin Delivery to a Mouse Model of Progranulin Deficiency Causes T Cell-Mediated Toxicity. Molecular therapy : the journal of the American Society of Gene Therapy. vol 27. issue 2. 2019-12-16. PMID:30559071. |
aav-mediated progranulin gene (grn) delivery has been proposed as a treatment for grn-deficient frontotemporal dementia and neuronal ceroid lipofuscinosis, and recent studies using intraparenchymal aav-grn delivery to brain have shown moderate success in histopathologic and behavioral rescue in mouse models. |
2019-12-16 |
2023-08-13 |
mouse |
| Courtney Alexander, Derek Pisner, Claudia Jacov. Predementia Brain Changes in Progranulin Mutation: A Systematic Review of Neuroimaging Evidence. Dementia and geriatric cognitive disorders. vol 47. issue 1-2. 2019-12-13. PMID:30630176. |
mutations in the progranulin (grn) gene are a major cause of familial frontotemporal dementia. |
2019-12-13 |
2023-08-13 |
Not clear |
| Henri J M M Mutsaerts, Saira S Mirza, Jan Petr, David L Thomas, David M Cash, Martina Bocchetta, Enrico de Vita, Arron W S Metcalfe, Zahra Shirzadi, Andrew D Robertson, Maria Carmela Tartaglia, Sara B Mitchell, Sandra E Black, Morris Freedman, David Tang-Wai, Ron Keren, Ekaterina Rogaeva, John van Swieten, Robert Laforce, Fabrizio Tagliavini, Barbara Borroni, Daniela Galimberti, James B Rowe, Caroline Graff, Giovanni B Frisoni, Elizabeth Finger, Sandro Sorbi, Alexandre de Mendonça, Jonathan D Rohrer, Bradley J MacIntosh, Mario Maselli. Cerebral perfusion changes in presymptomatic genetic frontotemporal dementia: a GENFI study. Brain : a journal of neurology. vol 142. issue 4. 2019-12-10. PMID:30847466. |
genetic forms of frontotemporal dementia are most commonly due to mutations in three genes, c9orf72, grn or mapt, with presymptomatic carriers from families representing those at risk. |
2019-12-10 |
2023-08-13 |
Not clear |