Cargando…

de novo MAPT mutation G335A causes severe brain atrophy, 3R and 4R PHF-tau pathology and early onset frontotemporal dementia

Detalles Bibliográficos
Autores principales:	Ando, Kunie, Ferlini, Lorenzo, Suain, Valérie, Yilmaz, Zehra, Mansour, Salwa, Le Ber, Isabelle, Bouchard, Cécile, Leroy, Karelle, Durr, Alexandra, Clot, Fabienne, Sarazin, Marie, Bier, Jean-Christophe, Brion, Jean-Pierre
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2020
Materias:	Letter to the Editor
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7325098/ https://www.ncbi.nlm.nih.gov/pubmed/32600421 http://dx.doi.org/10.1186/s40478-020-00977-8

Ejemplares similares

Interaction between a MAPT variant causing frontotemporal dementia and mutant APP affects axonal transport
por: Adalbert, Robert, et al.
Publicado: (2018)

Intravenous Injection of PHF-Tau Proteins From Alzheimer Brain Exacerbates Neuroinflammation, Amyloid Beta, and Tau Pathologies in 5XFAD Transgenic Mice
por: Houben, Sarah, et al.
Publicado: (2020)

Tau Pathology and Adult Hippocampal Neurogenesis: What Tau Mouse Models Tell us?
por: Houben, Sarah, et al.
Publicado: (2021)

The lipid phosphatase Synaptojanin 1 undergoes a significant alteration in expression and solubility and is associated with brain lesions in Alzheimer’s disease
por: Ando, Kunie, et al.
Publicado: (2020)

Anomia is present pre-symptomatically in frontotemporal dementia due to MAPT mutations
por: Bouzigues, Arabella, et al.
Publicado: (2022)

A Novel MAPT Mutation, G55R, in a Frontotemporal Dementia Patient Leads to Altered Tau Function
por: Iyer, Abhinaya, et al.
Publicado: (2013)

Role of MAPT mutations and haplotype in frontotemporal lobar degeneration in Northern Finland
por: Kaivorinne, Anna-Lotta, et al.
Publicado: (2008)

Presymptomatic and early pathological features of MAPT-associated frontotemporal lobar degeneration
por: Giannini, Lucia AA, et al.
Publicado: (2023)

Dysregulation of Phosphoinositide 5-Phosphatases and Phosphoinositides in Alzheimer's Disease
por: Ando, Kunie, et al.
Publicado: (2021)

Characterization of miR-335-5p and miR-335-3p in human osteoarthritic tissues
por: Wilson, Thomas G., et al.
Publicado: (2023)

Who and Why? Requests for Presymptomatic Genetic Testing for Amyotrophic Lateral Sclerosis/Frontotemporal Dementia vs Huntington Disease
por: Amador, Maria del Mar, et al.
Publicado: (2020)

Functions and Targets of miR-335 in Cancer
por: Ye, Lingling, et al.
Publicado: (2021)

Patients carrying the mutation p.R406W in MAPT present with non-conforming phenotypic spectrum
por: Gossye, Helena, et al.
Publicado: (2022)

Alzheimer's Disease: Tau Pathology and Dysfunction of Endocytosis
por: Ando, Kunie, et al.
Publicado: (2021)

Retiring the term FTDP-17 as MAPT mutations are genetic forms of sporadic frontotemporal tauopathies
por: Forrest, Shelley L, et al.
Publicado: (2018)

Two pathologically confirmed cases of novel mutations in the MAPT gene causing frontotemporal dementia
por: Shafei, Rachelle, et al.
Publicado: (2020)

Frontotemporal Dementia-Parkinsonism Due to MAPT Gene Variant Presenting with Rest and Action Tremor
por: Bhattacharjee, Shakya, et al.
Publicado: (2023)

[(18)F]AV‐1451 PET in behavioral variant frontotemporal dementia due to MAPT mutation
por: Bevan Jones, W. Richard, et al.
Publicado: (2016)

Mitotic defects lead to neuronal aneuploidy and apoptosis in frontotemporal lobar degeneration caused by MAPT mutations
por: Caneus, Julbert, et al.
Publicado: (2018)

Novel P397S MAPT variant associated with late onset and slow progressive frontotemporal dementia
por: Borrego‐Écija, Sergi, et al.
Publicado: (2019)

Brain MR Spectroscopy Changes Precede Frontotemporal Lobar Degeneration Phenoconversion in Mapt Mutation Carriers
por: Chen, Qin, et al.
Publicado: (2019)

Characterizing the Clinical Features and Atrophy Patterns of MAPT-Related Frontotemporal Dementia With Disease Progression Modeling
por: Young, Alexandra L., et al.
Publicado: (2021)

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

Isoform-specific patterns of tau burden and neuronal degeneration in MAPT-associated frontotemporal lobar degeneration
por: Giannini, Lucia A. A., et al.
Publicado: (2022)

Cortical iron accumulation in MAPT ‐ and C9orf 72‐associated frontotemporal lobar degeneration
por: Giannini, Lucia A. A., et al.
Publicado: (2023)

PICALM and Alzheimer’s Disease: An Update and Perspectives
por: Ando, Kunie, et al.
Publicado: (2022)

MiR-335 promotes corneal neovascularization by Targeting EGFR
por: Qian, Jingjing, et al.
Publicado: (2022)

An autopsied FTDP-17 case with MAPT IVS 10 + 14C > T mutation presenting with frontotemporal dementia
por: Watanabe, Ryohei, et al.
Publicado: (2021)

Hereditary Frontotemporal Dementia Linked to the Pathogenic p.L266V Variant of the MAPT Gene in Korea
por: Sung, Wonjae, et al.
Publicado: (2021)

Correction to: Isoform-specific patterns of tau burden and neuronal degeneration in MAPT-associated frontotemporal lobar degeneration
por: Giannini, Lucia A. A., et al.
Publicado: (2023)

Preferential tau aggregation in von Economo neurons and fork cells in frontotemporal lobar degeneration with specific MAPT variants
por: Lin, Li-Chun, et al.
Publicado: (2019)

Mest but Not MiR-335 Affects Skeletal Muscle Growth and Regeneration
por: Hiramuki, Yosuke, et al.
Publicado: (2015)

MMP-9 and MMP-2 Contribute to Neuronal Cell Death in iPSC Models of Frontotemporal Dementia with MAPT Mutations
por: Biswas, Md Helal U., et al.
Publicado: (2016)

MAPT R406W increases tau T217 phosphorylation in absence of amyloid pathology
por: Sato, Chihiro, et al.
Publicado: (2021)

Identification of hsa-miR-335 as a Prognostic Signature in Gastric Cancer
por: Yan, Zhi, et al.
Publicado: (2012)

Hsa-miR-335 regulates cardiac mesoderm and progenitor cell differentiation
por: Kay, Maryam, et al.
Publicado: (2019)

miR-335 Targets LRRK2 and Mitigates Inflammation in Parkinson’s Disease
por: Oliveira, Sara R., et al.
Publicado: (2021)

Exosomal delivery of TRAIL and miR-335 for the treatment of hepatocellular carcinoma (Review)
por: Thapa, Nikita, et al.
Publicado: (2022)

Invited review: Frontotemporal dementia caused by microtubule-associated protein tau gene (MAPT) mutations: a chameleon for neuropathology and neuroimaging
por: Ghetti, B, et al.
Publicado: (2015)

The CBI‐R detects early behavioural impairment in genetic frontotemporal dementia
por: Nelson, Annabel, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_ag26foc0admdm1of3b6060l57c