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2018 5
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2023 79
2024 18

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Progranulin as a therapeutic target in neurodegenerative diseases.
Rhinn H, Tatton N, McCaughey S, Kurnellas M, Rosenthal A. Rhinn H, et al. Trends Pharmacol Sci. 2022 Aug;43(8):641-652. doi: 10.1016/j.tips.2021.11.015. Epub 2022 Jan 15. Trends Pharmacol Sci. 2022. PMID: 35039149 Free article. Review.
Progranulin (PGRN, encoded by the GRN gene) plays a key role in the development, survival, function, and maintenance of neurons and microglia in the mammalian brain. It regulates lysosomal biogenesis, inflammation, repair, stress response, and aging. GRN …
Progranulin (PGRN, encoded by the GRN gene) plays a key role in the development, survival, function, and maintenance of …
An update on genetic frontotemporal dementia.
Greaves CV, Rohrer JD. Greaves CV, et al. J Neurol. 2019 Aug;266(8):2075-2086. doi: 10.1007/s00415-019-09363-4. Epub 2019 May 22. J Neurol. 2019. PMID: 31119452 Free PMC article. Review.
The majority of that heritability is accounted for by autosomal dominant mutations in the chromosome 9 open reading frame 72 (C9orf72), progranulin (GRN), and microtubule-associated protein tau (MAPT) genes, with mutations more rarely seen in a number of other genes …
The majority of that heritability is accounted for by autosomal dominant mutations in the chromosome 9 open reading frame 72 (C9orf72), p …
Advances in Treatment of Frontotemporal Dementia.
Magrath Guimet N, Zapata-Restrepo LM, Miller BL. Magrath Guimet N, et al. J Neuropsychiatry Clin Neurosci. 2022 Fall;34(4):316-327. doi: 10.1176/appi.neuropsych.21060166. Epub 2022 May 17. J Neuropsychiatry Clin Neurosci. 2022. PMID: 35578801 Review.
The two major proteins that aggregate in the brain with FTD are tau and TDP-43, whereas a minority of patients aggregate FET proteins, primarily the FUS protein. Genetic causes include mutations in MAPT, GRN, and C9orf72. There are no medications that can slow FTD progress …
The two major proteins that aggregate in the brain with FTD are tau and TDP-43, whereas a minority of patients aggregate FET proteins, prima …
The genetic regulation of protein expression in cerebrospinal fluid.
Hansson O, Kumar A, Janelidze S, Stomrud E, Insel PS, Blennow K, Zetterberg H, Fauman E, Hedman ÅK, Nagle MW, Whelan CD, Baird D, Mälarstig A, Mattsson-Carlgren N. Hansson O, et al. EMBO Mol Med. 2023 Jan 11;15(1):e16359. doi: 10.15252/emmm.202216359. Epub 2022 Dec 12. EMBO Mol Med. 2023. PMID: 36504281 Free PMC article.
Mendelian randomization analyses suggested causal roles for several proteins, for example, ApoE, CD33, and GRN in Alzheimer's disease, MMP-10 in preclinical Alzheimer's disease, SIGLEC9 in amyotrophic lateral sclerosis, and CD38, GPNMB, and ADAM15 in Parkinson's disease. C …
Mendelian randomization analyses suggested causal roles for several proteins, for example, ApoE, CD33, and GRN in Alzheimer's disease …
Rescue of a lysosomal storage disorder caused by Grn loss of function with a brain penetrant progranulin biologic.
Logan T, Simon MJ, Rana A, Cherf GM, Srivastava A, Davis SS, Low RLY, Chiu CL, Fang M, Huang F, Bhalla A, Llapashtica C, Prorok R, Pizzo ME, Calvert MEK, Sun EW, Hsiao-Nakamoto J, Rajendra Y, Lexa KW, Srivastava DB, van Lengerich B, Wang J, Robles-Colmenares Y, Kim DJ, Duque J, Lenser M, Earr TK, Nguyen H, Chau R, Tsogtbaatar B, Ravi R, Skuja LL, Solanoy H, Rosen HJ, Boeve BF, Boxer AL, Heuer HW, Dennis MS, Kariolis MS, Monroe KM, Przybyla L, Sanchez PE, Meisner R, Diaz D, Henne KR, Watts RJ, Henry AG, Gunasekaran K, Astarita G, Suh JH, Lewcock JW, DeVos SL, Di Paolo G. Logan T, et al. Cell. 2021 Sep 2;184(18):4651-4668.e25. doi: 10.1016/j.cell.2021.08.002. Epub 2021 Aug 26. Cell. 2021. PMID: 34450028 Free PMC article.
GRN mutations cause frontotemporal dementia (GRN-FTD) due to deficiency in progranulin (PGRN), a lysosomal and secreted protein with unclear function. ...PTV:PGRN thus represents a potential biotherapeutic for GRN-FTD....
GRN mutations cause frontotemporal dementia (GRN-FTD) due to deficiency in progranulin (PGRN), a lysosomal and s …
Single-cell and spatial transcriptomics reveal the fibrosis-related immune landscape of biliary atresia.
Ye C, Zhu J, Wang J, Chen D, Meng L, Zhan Y, Yang R, He S, Li Z, Dai S, Li Y, Sun S, Shen Z, Huang Y, Dong R, Chen G, Zheng S. Ye C, et al. Clin Transl Med. 2022 Nov;12(11):e1070. doi: 10.1002/ctm2.1070. Clin Transl Med. 2022. PMID: 36333281 Free PMC article.
Interactions analysis showed that communication among 'FGF_FGFR', 'RPS19-C5AR1', 'CD74_COPA/MIF/APP' and 'TNFRSF1A/B_GRN' was extensive. Finally, the results of deconvolution for ST data and microarray data validated that the proportions of certain identified fibrosis-rela …
Interactions analysis showed that communication among 'FGF_FGFR', 'RPS19-C5AR1', 'CD74_COPA/MIF/APP' and 'TNFRSF1A/B_GRN' was extensi …
Progranulin induces immune escape in breast cancer via up-regulating PD-L1 expression on tumor-associated macrophages (TAMs) and promoting CD8(+) T cell exclusion.
Fang W, Zhou T, Shi H, Yao M, Zhang D, Qian H, Zeng Q, Wang Y, Jin F, Chai C, Chen T. Fang W, et al. J Exp Clin Cancer Res. 2021 Jan 4;40(1):4. doi: 10.1186/s13046-020-01786-6. J Exp Clin Cancer Res. 2021. PMID: 33390170 Free PMC article.
BACKGROUND: Progranulin (PGRN), as a multifunctional growth factor, is overexpressed in multiple tumors, but the role of PGRN on tumor immunity is still unclear. Here, we studied the effect of PGRN on breast cancer tumor immunity and its possible molec …
BACKGROUND: Progranulin (PGRN), as a multifunctional growth factor, is overexpressed in multiple tumors, but the role of PG …
Granulin loss of function in human mature brain organoids implicates astrocytes in TDP-43 pathology.
de Majo M, Koontz M, Marsan E, Salinas N, Ramsey A, Kuo YM, Seo K, Li H, Dräger N, Leng K, Gonzales SL, Kurnellas M, Miyaoka Y, Klim JR, Kampmann M, Ward ME, Huang EJ, Ullian EM. de Majo M, et al. Stem Cell Reports. 2023 Mar 14;18(3):706-719. doi: 10.1016/j.stemcr.2023.01.012. Epub 2023 Feb 23. Stem Cell Reports. 2023. PMID: 36827976 Free PMC article.
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 …
Loss of function (LoF) of TAR-DNA binding protein 43 (TDP-43) and mis-localization, together with TDP-43-positive and hyperphosphorylated in …
Temporal order of clinical and biomarker changes in familial frontotemporal dementia.
Staffaroni AM, Quintana M, Wendelberger B, Heuer HW, Russell LL, Cobigo Y, Wolf A, Goh SM, Petrucelli L, Gendron TF, Heller C, Clark AL, Taylor JC, Wise A, Ong E, Forsberg L, Brushaber D, Rojas JC, VandeVrede L, Ljubenkov P, Kramer J, Casaletto KB, Appleby B, Bordelon Y, Botha H, Dickerson BC, Domoto-Reilly K, Fields JA, Foroud T, Gavrilova R, Geschwind D, Ghoshal N, Goldman J, Graff-Radford J, Graff-Radford N, Grossman M, Hall MGH, Hsiung GY, Huey ED, Irwin D, Jones DT, Kantarci K, Kaufer D, Knopman D, Kremers W, Lago AL, Lapid MI, Litvan I, Lucente D, Mackenzie IR, Mendez MF, Mester C, Miller BL, Onyike CU, Rademakers R, Ramanan VK, Ramos EM, Rao M, Rascovsky K, Rankin KP, Roberson ED, Savica R, Tartaglia MC, Weintraub S, Wong B, Cash DM, Bouzigues A, Swift IJ, Peakman G, Bocchetta M, Todd EG, Convery RS, Rowe JB, Borroni B, Galimberti D, Tiraboschi P, Masellis M, Finger E, van Swieten JC, Seelaar H, Jiskoot LC, Sorbi S, Butler CR, Graff C, Gerhard A, Langheinrich T, Laforce R, Sanchez-Valle R, de Mendonça A, Moreno F, Synofzik M, Vandenberghe R, Ducharme S, Le Ber I, Levin J, Danek A, Otto M, Pasquier F, Santana I, Kornak J, Boeve BF, Rosen HJ, Rohrer JD, Boxer AL; Frontotempor… See abstract for full author list ➔ Staffaroni AM, et al. Nat Med. 2022 Oct;28(10):2194-2206. doi: 10.1038/s41591-022-01942-9. Epub 2022 Sep 22. Nat Med. 2022. PMID: 36138153 Free PMC article.
We developed multimodal models for f-FTD disease progression and estimated clinical trial sample sizes in C9orf72, GRN and MAPT mutation carriers. Models included longitudinal clinical and neuropsychological scores, regional brain volumes and plasma neurofilament light cha …
We developed multimodal models for f-FTD disease progression and estimated clinical trial sample sizes in C9orf72, GRN and MAPT mutat …
Neurovascular dysfunction in GRN-associated frontotemporal dementia identified by single-nucleus RNA sequencing of human cerebral cortex.
Gerrits E, Giannini LAA, Brouwer N, Melhem S, Seilhean D, Le Ber I; Brainbank Neuro-CEB Neuropathology Network; Kamermans A, Kooij G, de Vries HE, Boddeke EWGM, Seelaar H, van Swieten JC, Eggen BJL. Gerrits E, et al. Nat Neurosci. 2022 Aug;25(8):1034-1048. doi: 10.1038/s41593-022-01124-3. Epub 2022 Jul 25. Nat Neurosci. 2022. PMID: 35879464
Frontotemporal dementia (FTD) is the second most prevalent form of early-onset dementia, affecting predominantly frontal and temporal cerebral lobes. Heterozygous mutations in the progranulin gene (GRN) cause autosomal-dominant FTD (FTD-GRN), associated with …
Frontotemporal dementia (FTD) is the second most prevalent form of early-onset dementia, affecting predominantly frontal and temporal cerebr …
385 results