Cargando…

Targeting nonsense-mediated RNA decay does not increase progranulin levels in the Grn (R493X) mouse model of frontotemporal dementia

A common cause of frontotemporal dementia (FTD) are nonsense mutations in the progranulin (GRN) gene. Because nonsense mutations activate the nonsense-mediated RNA decay (NMD) pathway, we sought to inhibit this RNA turnover pathway as a means to increase progranulin levels. Using a knock-in mouse mo...

Descripción completa

Detalles Bibliográficos
Autores principales:	Smith, Denise M., Niehoff, Michael L., Ling, Karen, Jafar-Nejad, Paymaan, Rigo, Frank, Farr, Susan A., Wilkinson, Miles F., Nguyen, Andrew D.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2023
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9997918/ https://www.ncbi.nlm.nih.gov/pubmed/36893203 http://dx.doi.org/10.1371/journal.pone.0282822

Ejemplares similares

Biochemical, biomarker, and behavioral characterization of the Grn(R493X) mouse model of frontotemporal dementia
por: Smith, Denise M., et al.
Publicado: (2023)

Neuropathological and behavioral characterization of aged Grn R493X progranulin-deficient frontotemporal dementia knockin mice
por: Frew, Jonathan, et al.
Publicado: (2021)

Murine knockin model for progranulin-deficient frontotemporal dementia with nonsense-mediated mRNA decay
por: Nguyen, Andrew D., et al.
Publicado: (2018)

Intracellular Proteolysis of Progranulin Generates Stable, Lysosomal Granulins that Are Haploinsufficient in Patients with Frontotemporal Dementia Caused by GRN Mutations
por: Holler, Christopher J., et al.
Publicado: (2017)

Trehalose upregulates progranulin expression in human and mouse models of GRN haploinsufficiency: a novel therapeutic lead to treat frontotemporal dementia
por: Holler, Christopher J., et al.
Publicado: (2016)

Deficiency of the frontotemporal dementia gene GRN results in gangliosidosis
por: Boland, Sebastian, et al.
Publicado: (2022)

Network analysis of the progranulin-deficient mouse brain proteome reveals pathogenic mechanisms shared in human frontotemporal dementia caused by GRN mutations
por: Huang, Meixiang, et al.
Publicado: (2020)

Modelling the cascade of biomarker changes in GRN-related frontotemporal dementia
por: Panman, Jessica L, et al.
Publicado: (2021)

Recent Insights into the Involvement of Progranulin in Frontotemporal Dementia
por: Sun, Li, et al.
Publicado: (2011)

Astroglial toxicity promotes synaptic degeneration in the thalamocortical circuit in frontotemporal dementia with GRN mutations
por: Marsan, Elise, et al.
Publicado: (2023)

Latozinemab, a novel progranulin-elevating therapy for frontotemporal dementia
por: Kurnellas, Michael, et al.
Publicado: (2023)

Frontotemporal dementia causative CHMP2B impairs neuronal endolysosomal traffic-rescue by TMEM106B knockdown
por: Clayton, Emma L, et al.
Publicado: (2018)

Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family members
por: Finch, NiCole, et al.
Publicado: (2009)

Elevated levels of extracellular vesicles in progranulin‐deficient mice and FTD‐GRN Patients
por: Arrant, Andrew E., et al.
Publicado: (2020)

Distinct cell type-specific protein signatures in GRN and MAPT genetic subtypes of frontotemporal dementia
por: Miedema, Suzanne S. M., et al.
Publicado: (2022)

Preclinical Interventions in Mouse Models of Frontotemporal Dementia Due to Progranulin Mutations
por: Kashyap, Shreya N., et al.
Publicado: (2023)

Analytical and clinical validation of a blood progranulin ELISA in frontotemporal dementias
por: Meda, Francisco, et al.
Publicado: (2023)

Case report: TMEM106B haplotype alters penetrance of GRN mutation in frontotemporal dementia family
por: Perneel, Jolien, et al.
Publicado: (2023)

Progranulin in frontotemporal lobar degeneration and neuroinflammation
por: Ahmed, Zeshan, et al.
Publicado: (2007)

Impaired β-glucocerebrosidase activity and processing in frontotemporal dementia due to progranulin mutations
por: Arrant, Andrew E., et al.
Publicado: (2019)

A case of familial frontotemporal dementia caused by a progranulin gene mutation
por: Currens, Lauryn, et al.
Publicado: (2023)

Investigating the role of filamin C in Belgian patients with frontotemporal dementia linked to GRN deficiency in FTLD-TDP brains
por: Janssens, Jonathan, et al.
Publicado: (2015)

Manic behavior and asymmetric right frontotemporal dementia from a novel progranulin mutation
por: Mendez, Mario F
Publicado: (2018)

White matter hyperintensities in progranulin-associated frontotemporal dementia: A longitudinal GENFI study
por: Sudre, Carole H., et al.
Publicado: (2019)

Single-cell multimodal analysis in a case with reduced penetrance of Progranulin-Frontotemporal Dementia
por: Natarajan, Karthick, et al.
Publicado: (2021)

Neuropsychological features of progranulin-associated frontotemporal dementia: a nested case-control study
por: Lima, Marisa, et al.
Publicado: (2020)

Mutation Frequency of the Major Frontotemporal Dementia Genes, MAPT, GRN and C9ORF72 in a Turkish Cohort of Dementia Patients
por: Guven, Gamze, et al.
Publicado: (2016)

Disrupted myelin lipid metabolism differentiates frontotemporal dementia caused by GRN and C9orf72 gene mutations
por: Marian, Oana C., et al.
Publicado: (2023)

Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadics
por: Whitwell, Jennifer L., et al.
Publicado: (2012)

Pathological correlates of white matter hyperintensities in a case of progranulin mutation associated frontotemporal dementia
por: Woollacott, Ione O.C., et al.
Publicado: (2018)

Progranulin Gene Mutations in Chinese Patients with Frontotemporal Dementia: A Case Report and Literature Review
por: Chu, Min, et al.
Publicado: (2023)

Progranulin axis and recent developments in frontotemporal lobar degeneration
por: Nicholson, Alexandra M, et al.
Publicado: (2012)

Premature termination codon readthrough upregulates progranulin expression and improves lysosomal function in preclinical models of GRN deficiency
por: Frew, Jonathan, et al.
Publicado: (2020)

FTD-PSP is an Unusual Clinical Phenotype in A Frontotemporal Dementia Patient with A Novel Progranulin Mutation
por: Deng, Bin, et al.
Publicado: (2021)

Common variation in the miR-659 binding-site of GRN is a major risk factor for TDP43-positive frontotemporal dementia
por: Rademakers, Rosa, et al.
Publicado: (2008)

Profiling of Ubiquitination Pathway Genes in Peripheral Cells from Patients with Frontotemporal Dementia due to C9ORF72 and GRN Mutations
por: Serpente, Maria, et al.
Publicado: (2015)

An 8-week, open-label, dose-finding study of nimodipine for the treatment of progranulin insufficiency from GRN gene mutations
por: Sha, Sharon J., et al.
Publicado: (2017)

Plasma levels of progranulin and interleukin-6 in frontotemporal lobar degeneration
por: Gibbons, Linda, et al.
Publicado: (2015)

A pathogenic progranulin mutation and C9orf72 repeat expansion in a family with frontotemporal dementia
por: Lashley, Tammaryn, et al.
Publicado: (2014)

Restoration of Progranulin Expression Rescues Cortical Neuron Generation in an Induced Pluripotent Stem Cell Model of Frontotemporal Dementia
por: Raitano, Susanna, et al.
Publicado: (2014)

Cannot write session to /tmp/vufind_sessions/sess_63idus8khplq6f03brfid605s0