| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Rachel Tesla, Charlotte Guhl, Gordon C Werthmann, Danielle Dixon, Basar Cenik, Yesu Addepalli, Jue Liang, Daniel M Fass, Zachary Rosenthal, Stephen J Haggarty, Noelle S Williams, Bruce A Posner, Joseph M Ready, Joachim Her. Benzoxazole-derivatives enhance progranulin expression and reverse the aberrant lysosomal proteome caused by GRN haploinsufficiency. Nature communications. vol 15. issue 1. 2024-07-20. PMID:39033178. |
heterozygous loss-of-function mutations in the grn gene are a major cause of hereditary frontotemporal dementia. |
2024-07-20 |
2024-07-24 |
human |
| Rachel Tesla, Charlotte Guhl, Gordon C Werthmann, Danielle Dixon, Basar Cenik, Yesu Addepalli, Jue Liang, Daniel M Fass, Zachary Rosenthal, Stephen J Haggarty, Noelle S Williams, Bruce A Posner, Joseph M Ready, Joachim Her. Benzoxazole-derivatives enhance progranulin expression and reverse the aberrant lysosomal proteome caused by GRN haploinsufficiency. Nature communications. vol 15. issue 1. 2024-07-20. PMID:39033178. |
our strategy to prevent the onset and progression of frontotemporal dementia in patients with grn mutations is to utilize small molecule positive regulators of grn expression to boost progranulin levels from the remaining functional grn allele, thus restoring progranulin levels back to normal within the brain. |
2024-07-20 |
2024-07-24 |
human |
| b' Elka Stefanova, Ana Marjanovi\\xc4\\x87, Valerija Dobri\\xc4\\x8di\\xc4\\x87, Gorana Mandi\\xc4\\x87-Stojmenovi\\xc4\\x87, Tanja Stojkovi\\xc4\\x87, Marija Brankovi\\xc4\\x87, Maksim \\xc5\\xa0ar\\xc4\\x8devi\\xc4\\x87, Ivana Novakovi\\xc4\\x87, Vladimir S Kosti\\xc4\\x8. Frequency of C9orf72, GRN, and MAPT pathogenic variants in patients recruited at the Belgrade Memory Center. Neurogenetics. 2024-06-07. PMID:38847891.' |
most of the heritability in frontotemporal dementia (ftd) is accounted for by autosomal dominant hexanucleotide expansion in the chromosome 9 open reading frame 72 (c9orf72), pathogenic/likely pathogenic variants in progranulin (grn), and microtubule-associated protein tau (mapt) genes. |
2024-06-07 |
2024-06-10 |
human |
| Anna K Cook, Kelsey M Greathouse, Phaedra N Manuel, Noelle H Cooper, Juliana M Eberhardt, Cameron D Freeman, Audrey J Weber, Jeremy H Herskowitz, Andrew E Arran. Dendritic spine head diameter is reduced in the prefrontal cortex of progranulin haploinsufficient mice. Molecular brain. vol 17. issue 1. 2024-06-06. PMID:38840181. |
loss-of-function mutations in the progranulin (grn) gene are an autosomal dominant cause of frontotemporal dementia (ftd). |
2024-06-06 |
2024-06-08 |
mouse |
| Jeffrey Sevigny, Olga Uspenskaya, Laura Dean Heckman, Li Chin Wong, Daniel A Hatch, Ambika Tewari, Rik Vandenberghe, David J Irwin, Dario Saracino, Isabelle Le Ber, Rebekah Ahmed, Jonathan D Rohrer, Adam L Boxer, Sebastian Boland, Patricia Sheehan, Alissa Brandes, Suzanne R Burstein, Benjamin M Shykind, Sitharthan Kamalakaran, Carter W Daniels, E David Litwack, Erin Mahoney, Jenny Velaga, Ilan McNamara, Patricia Sondergaard, Syed A Sajjad, Yvonne M Kobayashi, Asa Abeliovich, Franz Heft. Progranulin AAV gene therapy for frontotemporal dementia: translational studies and phase 1/2 trial interim results. Nature medicine. vol 30. issue 5. 2024-05-21. PMID:38745011. |
grn mutations cause progranulin haploinsufficiency, which eventually leads to frontotemporal dementia (ftd-grn). |
2024-05-21 |
2024-05-27 |
mouse |
| Denise M Smith, Geetika Aggarwal, Michael L Niehoff, Spencer A Jones, Subhashis Banerjee, Susan A Farr, Andrew D Nguye. Biochemical, Biomarker, and Behavioral Characterization of the Grn Molecular neurobiology. 2024-05-02. PMID:38696065. |
biochemical, biomarker, and behavioral characterization of the grn heterozygous loss-of-function mutations in the progranulin gene (grn) are a major cause of frontotemporal dementia due to progranulin haploinsufficiency; complete deficiency of progranulin causes neuronal ceroid lipofuscinosis. |
2024-05-02 |
2024-05-04 |
mouse |
| Imogen J Swift, Rosa Rademakers, NiCole Finch, Matt Baker, Roberta Ghidoni, Luisa Benussi, Giuliano Binetti, Giacomina Rossi, Matthis Synofzik, Carlo Wilke, David Mengel, Caroline Graff, Leonel T Takada, Raquel Sánchez-Valle, Anna Antonell, Daniela Galimberti, Chiara Fenoglio, Maria Serpente, Marina Arcaro, Stefanie Schreiber, Stefan Vielhaber, Philipp Arndt, Isabel Santana, Maria Rosario Almeida, Fermín Moreno, Myriam Barandiaran, Alazne Gabilondo, Johannes Stubert, Estrella Gómez-Tortosa, Pablo Agüero, M José Sainz, Tomohito Gohda, Maki Murakoshi, Nozomu Kamei, Sarah Kittel-Schneider, Andreas Reif, Johannes Weigl, Jinlong Jian, Chuanju Liu, Ginette Serrero, Thomas Greither, Gerit Theil, Ebba Lohmann, Stefano Gazzina, Silvia Bagnoli, Giovanni Coppola, Amalia Bruni, Mirja Quante, Wieland Kiess, Andreas Hiemisch, Anne Jurkutat, Matthew S Block, Aaron M Carlson, Geir Bråthen, Sigrid Botne Sando, Gøril Rolfseng Grøntvedt, Camilla Lauridsen, Amanda Heslegrave, Carolin Heller, Emily Abel, Alba Gómez-Núñez, Roger Puey, Andrea Arighi, Enmanuela Rotondo, Lize C Jiskoot, Lieke H H Meeter, João Durães, Marisa Lima, Miguel Tábuas-Pereira, João Lemos, Bradley Boeve, Ronald C Petersen, Dennis W Dickson, Neill R Graff-Radford, Isabelle LeBer, Leila Sellami, Foudil Lamari, Fabienne Clot, Barbara Borroni, Valentina Cantoni, Jasmine Rivolta, Alberto Lleó, Juan Fortea, Daniel Alcolea, Ignacio Illán-Gala, Lucie Andres-Cerezo, Philip Van Damme, Jordi Clarimon, Petra Steinacker, Emily Feneberg, Markus Otto, Emma L van der Ende, John C van Swieten, Harro Seelaar, Henrik Zetterberg, Aitana Sogorb-Esteve, Jonathan D Rohre. A systematic review of progranulin concentrations in biofluids in over 7,000 people-assessing the pathogenicity of GRN mutations and other influencing factors. Alzheimer's research & therapy. vol 16. issue 1. 2024-03-28. PMID:38539243. |
pathogenic heterozygous mutations in the progranulin gene (grn) are a key cause of frontotemporal dementia (ftd), leading to significantly reduced biofluid concentrations of the progranulin protein (pgrn). |
2024-03-28 |
2024-03-30 |
Not clear |
| Wonjae Sung, Min-Young Noh, Minyeop Nahm, Yong Sung Kim, Chang-Seok Ki, Young-Eun Kim, Hee-Jin Kim, Seung Hyun Ki. Progranulin haploinsufficiency mediates cytoplasmic TDP-43 aggregation with lysosomal abnormalities in human microglia. Journal of neuroinflammation. vol 21. issue 1. 2024-02-12. PMID:38347588. |
progranulin (pgrn) haploinsufficiency due to progranulin gene (grn) variants can cause frontotemporal dementia (ftd) with aberrant tar dna-binding protein 43 (tdp-43) accumulation. |
2024-02-12 |
2024-02-15 |
human |
| Youde Cai, Zhongyong Peng, Qiansong He, Ping Su. Behavioral variant frontotemporal dementia associated with GRN and ErbB4 gene mutations: a case report and literature review. BMC medical genomics. vol 17. issue 1. 2024-01-30. PMID:38291418. |
behavioral variant frontotemporal dementia associated with grn and erbb4 gene mutations: a case report and literature review. |
2024-01-30 |
2024-02-02 |
Not clear |
| Geetika Aggarwal, Subhashis Banerjee, Spencer A Jones, Yousri Benchaar, Jasmine Bélanger, Myriam Sévigny, Denise M Smith, Michael L Niehoff, Monica Pavlack, Ian Mitchelle S de Vera, Terri L Petkau, Blair R Leavitt, Karen Ling, Paymaan Jafar-Nejad, Frank Rigo, John E Morley, Susan A Farr, Paul A Dutchak, Chantelle F Sephton, Andrew D Nguye. Antisense oligonucleotides targeting the miR-29b binding site in the GRN mRNA increase progranulin translation. The Journal of biological chemistry. 2023-11-19. PMID:37981208. |
heterozygous grn (progranulin) mutations cause frontotemporal dementia (ftd) due to haploinsufficiency, and increasing progranulin levels is a major therapeutic goal. |
2023-11-19 |
2023-11-29 |
mouse |
| Assunta Ingannato, Valentina Bessi, Annalisa Chiari, Davide Salvatori, Silvia Bagnoli, Roberta Bedin, Camilla Ferrari, Sandro Sorbi, Benedetta Nacmia. GRN Missense Variants and Familial Alzheimer's Disease: Two Case Reports. Journal of Alzheimer's disease : JAD. 2023-10-29. PMID:37899057. |
mutations in grn gene are usually the genetic etiology of frontotemporal dementia (ftd), but different studies reported grn mutations in alzheimer 's disease (ad) patients. |
2023-10-29 |
2023-11-08 |
Not clear |
| Azariah K Kaplelach, Stephanie N Fox, Anna K Cook, Justin A Hall, Ryan S Dannemiller, Karen L Jaunarajs, Andrew E Arran. Regulation of extracellular progranulin in medial prefrontal cortex. Neurobiology of disease. 2023-10-14. PMID:37838007. |
mutations in progranulin (grn) are a major cause of frontotemporal dementia. |
2023-10-14 |
2023-11-08 |
mouse |
| Joana Vítor, Dario Saracino, Sebastian Ströer, Agnès Camuzat, Karim Dorgham, Fabienne Clot, Philippe Martin-Hardy, Florence Pasquier, Isabelle Le Be. Atypical White Matter Hyperintensities Markedly Impact Plasma Neurofilament Light Chain Variability in GRN Patients. Journal of Alzheimer's disease : JAD. 2023-07-02. PMID:37393503. |
grn mutations, causing frontotemporal dementia, can be associated with atypical white matter hyperintensities (wmh). |
2023-07-02 |
2023-08-14 |
Not clear |
| Michael Kurnellas, Ananya Mitra, Tina Schwabe, Robert Paul, Andrew E Arrant, Erik D Roberson, Michael Ward, Felix Yeh, Hua Long, Arnon Rosentha. Latozinemab, a novel progranulin-elevating therapy for frontotemporal dementia. Journal of translational medicine. vol 21. issue 1. 2023-06-15. PMID:37322482. |
heterozygous loss-of-function mutations in the progranulin (pgrn) gene (grn) cause a reduction in pgrn and lead to the development of frontotemporal dementia (ftd-grn). |
2023-06-15 |
2023-08-14 |
human |
| Skylar E Davis, Anna K Cook, Justin A Hall, Yuliya Voskobiynyk, Nancy V Carullo, Nicholas R Boyle, Ahmad R Hakim, Kristian M Anderson, Kierra P Hobdy, Derian A Pugh, Charles F Murchison, Laura J McMeekin, Micah Simmons, Katherine A Margolies, Rita M Cowell, Alissa L Nana, Salvatore Spina, Lea T Grinberg, Bruce L Miller, William W Seeley, Andrew E Arran. Patients with sporadic FTLD exhibit similar increases in lysosomal proteins and storage material as patients with FTD due to GRN mutations. Acta neuropathologica communications. vol 11. issue 1. 2023-04-29. PMID:37118844. |
loss of function progranulin (grn) mutations are a major autosomal dominant cause of frontotemporal dementia (ftd). |
2023-04-29 |
2023-08-14 |
mouse |
| Jolien Perneel, Masood Manoochehri, Edward D Huey, Rosa Rademakers, Jill Goldma. Case report: TMEM106B haplotype alters penetrance of GRN mutation in frontotemporal dementia family. Frontiers in neurology. vol 14. 2023-04-20. PMID:37077569. |
case report: tmem106b haplotype alters penetrance of grn mutation in frontotemporal dementia family. |
2023-04-20 |
2023-08-14 |
Not clear |
| Walid Khrouf, Dario Saracino, Benoit Rucheton, Marion Houot, Fabienne Clot, Daisy Rinaldi, Joana Vitor, Marie Huynh, Evelyne Heng, Dimitri Schlemmer, Florence Pasquier, Vincent Deramecourt, Sophie Auriacombe, Carole Azuar, Richard Levy, Stéphanie Bombois, Claire Boutoleau-Brétonnière, Jérémie Pariente, Mira Didic, David Wallon, Frédérique Fluchère, Stéphane Auvin, Imen Ben Younes, Yann Nadjar, Alexis Brice, Bruno Dubois, Dominique Bonnefont-Rousselot, Isabelle Le Ber, Foudil Lamari, Sophie Auriacombe, Serge Belliard, Frédéric Blanc, Claire Boutoleau-Brétonnière, Alexis Brice, Mathieu Ceccaldi, Philippe Couratier, Mira Didic, Bruno Dubois, Frédérique Etcharry-Bouyx, Maïté Formaglio, Véronique Golfier, Didier Hannequin, Lucette Lacomblez, Julien Lagarde, Isabelle Le Ber, Richard Levy, Bernard-François Michel, Jérémie Pariente, Florence Pasquier, Daisy Rinaldi, Carole Roué-Jagot, François Sellal, Christel Thauvin-Robinet, Catherine Thomas-Antérion, Martine Vercelletto, Mira Didic, Nadine Girard, Eric Guedj, Michèle Puel, Jérémie Pariente, Isabelle Berry, Pierre Payoux, Martine Vercelletto, Claire Boutoleau-Brétonnière, Elisabeth Auffray-Calvier, Amandine Pallardy, Florence Pasquier, Vincent Deramecourt, Stéphanie Bombois, Thibaud Lebouvier, Adeline Rollin, Gregory Kuchinski, Didier Hannequin, Olivier Martinaud, David Wallon, Emmanuel Gerardin, Pierre Vera, Daisy Rinaldi, Agnès Camuzat, Alexis Brice, Marie Chupin, Eric Bardinet, Aurélie Kas, Valérie-Causse Lemercier, Merry Masmanian, Hervé Oy. Plasma lysosphingolipids in GRN-related diseases: Monitoring lysosomal dysfunction to track disease progression. Neurobiology of disease. 2023-04-01. PMID:37003407. |
grn mutations are among the main genetic causes of frontotemporal dementia (ftd). |
2023-04-01 |
2023-08-14 |
Not clear |
| Walid Khrouf, Dario Saracino, Benoit Rucheton, Marion Houot, Fabienne Clot, Daisy Rinaldi, Joana Vitor, Marie Huynh, Evelyne Heng, Dimitri Schlemmer, Florence Pasquier, Vincent Deramecourt, Sophie Auriacombe, Carole Azuar, Richard Levy, Stéphanie Bombois, Claire Boutoleau-Brétonnière, Jérémie Pariente, Mira Didic, David Wallon, Frédérique Fluchère, Stéphane Auvin, Imen Ben Younes, Yann Nadjar, Alexis Brice, Bruno Dubois, Dominique Bonnefont-Rousselot, Isabelle Le Ber, Foudil Lamari, Sophie Auriacombe, Serge Belliard, Frédéric Blanc, Claire Boutoleau-Brétonnière, Alexis Brice, Mathieu Ceccaldi, Philippe Couratier, Mira Didic, Bruno Dubois, Frédérique Etcharry-Bouyx, Maïté Formaglio, Véronique Golfier, Didier Hannequin, Lucette Lacomblez, Julien Lagarde, Isabelle Le Ber, Richard Levy, Bernard-François Michel, Jérémie Pariente, Florence Pasquier, Daisy Rinaldi, Carole Roué-Jagot, François Sellal, Christel Thauvin-Robinet, Catherine Thomas-Antérion, Martine Vercelletto, Mira Didic, Nadine Girard, Eric Guedj, Michèle Puel, Jérémie Pariente, Isabelle Berry, Pierre Payoux, Martine Vercelletto, Claire Boutoleau-Brétonnière, Elisabeth Auffray-Calvier, Amandine Pallardy, Florence Pasquier, Vincent Deramecourt, Stéphanie Bombois, Thibaud Lebouvier, Adeline Rollin, Gregory Kuchinski, Didier Hannequin, Olivier Martinaud, David Wallon, Emmanuel Gerardin, Pierre Vera, Daisy Rinaldi, Agnès Camuzat, Alexis Brice, Marie Chupin, Eric Bardinet, Aurélie Kas, Valérie-Causse Lemercier, Merry Masmanian, Hervé Oy. Plasma lysosphingolipids in GRN-related diseases: Monitoring lysosomal dysfunction to track disease progression. Neurobiology of disease. 2023-04-01. PMID:37003407. |
we analyzed four lysospl levels in plasmas of 131 grn carriers and 142 non-carriers, including healthy controls and patients with frontotemporal dementias (ftd) carrying a c9orf72 expansion or without any mutation. |
2023-04-01 |
2023-08-14 |
Not clear |
| Min Chu, Haitian Nan, Deming Jiang, Li Liu, Anqi Huang, Yihao Wang, Liyong W. Progranulin Gene Mutation in Chinese Patients with Frontotemporal Dementia: A Case Report and Literature Review. Journal of Alzheimer's disease : JAD. 2023-03-27. PMID:36970912. |
progranulin (grn) mutations in frontotemporal dementia (ftd) have been less frequently reported in china than in western countries. |
2023-03-27 |
2023-08-14 |
Not clear |
| 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. |
disrupted myelin lipid metabolism differentiates frontotemporal dementia caused by grn and c9orf72 gene mutations. |
2023-03-26 |
2023-08-14 |
mouse |