Cargando…

A 3’UTR Insertion Is a Candidate Causal Variant at the TMEM106B Locus Associated with Increased Risk for FTLD-TDP

BACKGROUND AND OBJECTIVES: Single nucleotide variants near TMEM106B associate with risk of frontotemporal lobar dementia with TDP-43 inclusions (FTLD-TDP) and Alzheimer’s disease (AD) in genome-wide association studies (GWAS), but the causal variant at this locus remains unclear. Here we asked wheth...

Descripción completa

Detalles Bibliográficos
Autores principales:	Chemparathy, Augustine, Guen, Yann Le, Zeng, Yi, Gorzynski, John, Jensen, Tanner, Yang, Chengran, Kasireddy, Nandita, Talozzi, Lia, Belloy, Michael E., Stewart, Ilaria, Gitler, Aaron D., Wagner, Anthony D., Mormino, Elizabeth, Henderson, Victor W., Wyss-Coray, Tony, Ashley, Euan, Cruchaga, Carlos, Greicius, Michael D.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Cold Spring Harbor Laboratory 2023
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10350161/ https://www.ncbi.nlm.nih.gov/pubmed/37461476 http://dx.doi.org/10.1101/2023.07.06.23292312

Ejemplares similares

A novel temporal‐predominant neuro‐astroglial tauopathy associated with TMEM106B gene polymorphism in FTLD/ALS‐TDP
por: Llibre‐Guerra, Jorge J., et al.
Publicado: (2021)

APOE-ε4 and BIN1 increase risk of Alzheimer’s disease pathology but not specifically of Lewy body pathology
por: Talyansky, Seth, et al.
Publicado: (2023)

APOE-ε4 and BIN1 increase risk of Alzheimer’s disease pathology but not specifically of Lewy body pathology
por: Talyansky, Seth, et al.
Publicado: (2023)

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

Neuronal VCP loss of function recapitulates FTLD-TDP pathology
por: Wani, Abubakar, et al.
Publicado: (2021)

TMEM106B, a risk factor for FTLD and aging, has an intrinsically disordered cytoplasmic domain
por: Kang, Jian, et al.
Publicado: (2018)

Evidence of cerebellar TDP-43 loss of function in FTLD-TDP
por: Pickles, Sarah, et al.
Publicado: (2022)

APOE loss-of-function variants: Compatible with longevity and associated with resistance to Alzheimer’s Disease pathology
por: Chemparathy, Augustine, et al.
Publicado: (2023)

AAV-GRN partially corrects motor deficits and ALS/FTLD-related pathology in Tmem106b(−/−)Grn(−/−) mice
por: Feng, Tuancheng, et al.
Publicado: (2023)

Towards a TDP-43-Based Biomarker for ALS and FTLD
por: Feneberg, Emily, et al.
Publicado: (2018)

The Pathobiology of TDP-43 C-Terminal Fragments in ALS and FTLD
por: Berning, Britt A., et al.
Publicado: (2019)

Movement disorders are linked to TDP-43 burden in the substantia nigra of FTLD-TDP brain donors
por: Fiondella, Luigi, et al.
Publicado: (2023)

TDP-43 forms amyloid filaments with a distinct fold in type A FTLD-TDP
por: Arseni, Diana, et al.
Publicado: (2023)

Therapeutic effect of berberine on TDP-43-related pathogenesis in FTLD and ALS
por: Chang, Cheng-Fu, et al.
Publicado: (2016)

Molecular Dissection of TDP-43 as a Leading Cause of ALS/FTLD
por: Tamaki, Yoshitaka, et al.
Publicado: (2022)

TMEM106B, a frontotemporal lobar dementia (FTLD) modifier, associates with FTD-3-linked CHMP2B, a complex of ESCRT-III
por: Jun, Mi-Hee, et al.
Publicado: (2015)

Antibody against TDP-43 phosphorylated at serine 375 suggests conformational differences of TDP-43 aggregates among FTLD–TDP subtypes
por: Neumann, Manuela, et al.
Publicado: (2020)

Classification of FTLD-TDP cases into pathological subtypes using antibodies against phosphorylated and non-phosphorylated TDP43
por: Tan, Rachel H, et al.
Publicado: (2013)

Regional and hemispheric susceptibility of the temporal lobe to FTLD-TDP type C pathology
por: Borghesani, V., et al.
Publicado: (2020)

C-terminal and full length TDP-43 specie differ according to FTLD-TDP lesion type but not genetic mutation
por: Josephs, Keith A., et al.
Publicado: (2019)

Identification of TMEM106B amyloid fibrils provides an updated view of TMEM106B biology in health and disease
por: Perneel, Jolien, et al.
Publicado: (2022)

C-terminal TMEM106B fragments in human brain correlate with disease-associated TMEM106B haplotypes
por: T. Vicente, Cristina, et al.
Publicado: (2023)

Lysosomal dysfunction in TMEM106B hypomyelinating leukodystrophy
por: Ito, Yoko, et al.
Publicado: (2018)

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

Molecular Mechanisms Underlying TDP-43 Pathology in Cellular and Animal Models of ALS and FTLD
por: Wood, Alistair, et al.
Publicado: (2021)

NUP62 localizes to ALS/FTLD pathological assemblies and contributes to TDP-43 insolubility
por: Gleixner, Amanda M., et al.
Publicado: (2022)

Codon-optimized TDP-43 mediates neurodegeneration in a Drosophila model of ALS/FTLD
por: Yusuff, Tanzeen, et al.
Publicado: (2023)

Variation in TMEM106B in chronic traumatic encephalopathy
por: Cherry, Jonathan D., et al.
Publicado: (2018)

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

TDP-43 Vasculopathy in the Spinal Cord in Sporadic Amyotrophic Lateral Sclerosis (sALS) and Frontal Cortex in sALS/FTLD-TDP
por: Ferrer, Isidro, et al.
Publicado: (2021)

Teaching case 3-2019: Are nuclear clefts or invaginations the niche of intranuclear inclusions in FTLD-TDP?
por: Molina-Porcel, Laura, et al.
Publicado: (2019)

Antibody-recognizing residues 188-211 of TMEM106B exhibit immunohistochemical reactivity with the TMEM106B C-terminal fragment
por: Ishikawa, Ruoyi, et al.
Publicado: (2023)

Confirming Pathogenicity of the F386L PSEN1 Variant in a South Asian Family With Early-Onset Alzheimer Disease
por: Eger, Sarah J., et al.
Publicado: (2021)

The major TMEM106B dementia risk allele affects TMEM106B protein levels, fibril formation, and myelin lipid homeostasis in the ageing human hippocampus
por: Lee, Jun Yup, et al.
Publicado: (2023)

Genome-wide analysis of common and rare variants via multiple knockoffs at biobank scale, with an application to Alzheimer disease genetics
por: He, Zihuai, et al.
Publicado: (2021)

FTLD‐TDP assemblies seed neoaggregates with subtype‐specific features via a prion‐like cascade
por: De Rossi, Pierre, et al.
Publicado: (2021)

Shared brain transcriptomic signature in TDP-43 type A FTLD patients with or without GRN mutations
por: Pottier, Cyril, et al.
Publicado: (2021)

TMEM106A transcriptionally regulated by promoter methylation is involved in invasion and metastasis of hepatocellular carcinoma: TMEM106A is involved in invasion and metastasis of HCC
por: Shi, Shiming, et al.
Publicado: (2022)

The major TMEM106B dementia risk allele affects TMEM106B protein levels and myelin lipid homeostasis in the ageing human hippocampus
por: Lee, Jun Yup, et al.
Publicado: (2023)

Diffuse argyrophilic grain disease with TDP-43 proteinopathy and neuronal intermediate filament inclusion disease: FTLD with mixed tau, TDP-43 and FUS pathologies
por: Koga, Shunsuke, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_nhpd0t3si3uuvva67d3qj5cobh