Cargando…

Promoter DNA methylation regulates progranulin expression and is altered in FTLD

BACKGROUND: Frontotemporal lobar degeneration (FTLD) is a heterogeneous group of neurodegenerative diseases associated with personality changes and progressive dementia. Loss-of-function mutations in the growth factor progranulin (GRN) cause autosomal dominant FTLD, but so far the pathomechanism of...

Descripción completa

Detalles Bibliográficos
Autores principales:	Banzhaf-Strathmann, Julia, Claus, Rainer, Mücke, Oliver, Rentzsch, Kristin, van der Zee, Julie, Engelborghs, Sebastiaan, De Deyn, Peter P, Cruts, Marc, van Broeckhoven, Christine, Plass, Christoph, Edbauer, Dieter
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2013
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3893557/ https://www.ncbi.nlm.nih.gov/pubmed/24252647 http://dx.doi.org/10.1186/2051-5960-1-16

Ejemplares similares

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)

C9orf72 FTLD/ALS-associated Gly-Ala dipeptide repeat proteins cause neuronal toxicity and Unc119 sequestration
por: May, Stephanie, et al.
Publicado: (2014)

Extended FTLD pedigree segregating a Belgian GRN-null mutation: neuropathological heterogeneity in one family
por: Sieben, Anne, et al.
Publicado: (2018)

Good guy or bad guy: the opposing roles of microRNA 125b in cancer
por: Banzhaf-Strathmann, Julia, et al.
Publicado: (2014)

Loss of TMEM106B potentiates lysosomal and FTLD‐like pathology in progranulin‐deficient mice
por: Werner, Georg, et al.
Publicado: (2020)

Diagnostic value of cerebrospinal fluid tau, neurofilament, and progranulin in definite frontotemporal lobar degeneration
por: Goossens, Joery, et al.
Publicado: (2018)

The genetics and neuropathology of frontotemporal lobar degeneration
por: Sieben, Anne, et al.
Publicado: (2012)

Pathological mechanisms underlying TDP-43 driven neurodegeneration in FTLD–ALS spectrum disorders
por: Janssens, Jonathan, et al.
Publicado: (2013)

The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter
por: Gijselinck, I, et al.
Publicado: (2016)

Early retinal neurodegeneration and impaired Ran-mediated nuclear import of TDP-43 in progranulin-deficient FTLD
por: Ward, Michael E., et al.
Publicado: (2014)

Reduced secreted clusterin as a mechanism for Alzheimer-associated CLU mutations
por: Bettens, Karolien, et al.
Publicado: (2015)

TMEM106B is associated with frontotemporal lobar degeneration in a clinically diagnosed patient cohort
por: van der Zee, Julie, et al.
Publicado: (2011)

Cytoplasmic poly-GA aggregates impair nuclear import of TDP-43 in C9orf72 ALS/FTLD
por: Khosravi, Bahram, et al.
Publicado: (2017)

The Use of Biomarkers and Genetic Screening to Diagnose Frontotemporal Dementia: Evidence and Clinical Implications
por: Gossye, Helena, et al.
Publicado: (2019)

Predictive value of DNA methylation patterns in AML patients treated with an azacytidine containing induction regimen
por: Schmutz, Maximilian, et al.
Publicado: (2023)

A Pan-European Study of the C9orf72 Repeat Associated with FTLD: Geographic Prevalence, Genomic Instability, and Intermediate Repeats
por: van der Zee, Julie, et al.
Publicado: (2013)

Inactivation of CDK/pRb Pathway Normalizes Survival Pattern of Lymphoblasts Expressing the FTLD-Progranulin Mutation c.709-1G>A
por: Alquezar, Carolina, et al.
Publicado: (2012)

Serum Daytime Melatonin Levels Reflect Cerebrospinal Fluid Melatonin Levels in Alzheimer’s Disease but Are Not Correlated with Cognitive Decline
por: Nous, Amber, et al.
Publicado: (2021)

TDP-43 as a possible biomarker for frontotemporal lobar degeneration: a systematic review of existing antibodies
por: Goossens, Joery, et al.
Publicado: (2015)

Detecting clinical change with the CDR‐FTLD: differences between FTLD and AD dementia
por: Mioshi, Eneida, et al.
Publicado: (2016)

Validation of the Erlangen Score Algorithm for Differential Dementia Diagnosis in Autopsy-Confirmed Subjects
por: Somers, Charisse, et al.
Publicado: (2019)

Locus-Specific Mutation Databases for Neurodegenerative Brain Diseases
por: Cruts, Marc, et al.
Publicado: (2012)

Genetics of Early-Onset Alzheimer Dementia
por: Rademakers, Rosa, et al.
Publicado: (2003)

Clinical features of TBK1 carriers compared with C9orf72, GRN and non-mutation carriers in a Belgian cohort
por: Van Mossevelde, Sara, et al.
Publicado: (2016)

Inside out: the role of nucleocytoplasmic transport in ALS and FTLD
por: Boeynaems, Steven, et al.
Publicado: (2016)

Loss of TBK1 is a frequent cause of frontotemporal dementia in a Belgian cohort
por: Gijselinck, Ilse, et al.
Publicado: (2015)

The porphyrin TMPyP4 inhibits elongation during the noncanonical translation of the FTLD/ALS-associated GGGGCC repeat in the C9orf72 gene
por: Mori, Kohji, et al.
Publicado: (2021)

Amyloid-β(1–43) cerebrospinal fluid levels and the interpretation of APP, PSEN1 and PSEN2 mutations
por: Perrone, Federica, et al.
Publicado: (2020)

Genetic Etiology of Parkinson Disease Associated with Mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 Genes: A Mutation Update
por: Nuytemans, Karen, et al.
Publicado: (2010)

Improved Alzheimer’s Disease versus Frontotemporal Lobar Degeneration Differential Diagnosis Combining EEG and Neurochemical Biomarkers: A Pilot Study
por: Laton, Jorne, et al.
Publicado: (2022)

Alzheimer risk associated with a copy number variation in the complement receptor 1 increasing C3b/C4b binding sites
por: Brouwers, N, et al.
Publicado: (2012)

Tau immunotherapy is associated with glial responses in FTLD-tau
por: Kim, Boram, et al.
Publicado: (2021)

An intronic VNTR affects splicing of ABCA7 and increases risk of Alzheimer’s disease
por: De Roeck, Arne, et al.
Publicado: (2018)

No added diagnostic value of non-phosphorylated tau fraction (p-tau(rel)) in CSF as a biomarker for differential dementia diagnosis
por: Goossens, Joery, et al.
Publicado: (2017)

Importance of Functional Loss of FUS in FTLD/ALS
por: Ishigaki, Shinsuke, et al.
Publicado: (2018)

The FUS about SFPQ in FTLD spectrum disorders
por: Patani, Rickie
Publicado: (2020)

Distinct and shared neuropsychiatric phenotypes in FTLD-tauopathies
por: Keszycki, Rachel, et al.
Publicado: (2023)

Sex Hormone-Binding Globulin (SHBG) in Cerebrospinal Fluid Does Not Discriminate between the Main FTLD Pathological Subtypes but Correlates with Cognitive Decline in FTLD Tauopathies
por: del Campo, Marta, et al.
Publicado: (2021)

Novel CSF biomarkers to discriminate FTLD and its pathological subtypes
por: del Campo, Marta, et al.
Publicado: (2018)

Targeted manipulation of the sortilin–progranulin axis rescues progranulin haploinsufficiency
por: Lee, Wing C., et al.
Publicado: (2014)

Cannot write session to /tmp/vufind_sessions/sess_9755l7pbifog4pif9i1gd19fm8