Results 121 to 130 of about 12,015 (253)

Amyotrophic Lateral Sclerosis–Frontotemporal Lobar Dementia in 3 Families With p.Ala382Thr TARDBP Mutations [PDF]

Archives of Neurology, 2010
TAR DNA-binding protein 43, encoded by the TARDBP gene, has been identified as the major pathological protein of frontotemporal lobar dementia (FTLD) with or without amyotrophic lateral sclerosis (ALS) and sporadic ALS. Subsequently, mutations in the TARDBP gene have been detected in 2% to 3% of patients with ALS (both familial and sporadic ALS ...
CHIO', Adriano, CALVO, Andrea, MOGLIA, CRISTINA, Restagno G, Ossola I, Brunetti M, MONTUSCHI, ANNA, Cistaro A, Ticca A, Traynor BJ, Schymick JC, MUTANI, Roberto, Marrosu MG, Murru MR, Borghero G.   +14 more
openaire   +2 more sources

Sensory and motor neuronopathy in a patient with the A382P TDP-43 mutation

Orphanet Journal of Rare Diseases, 2011
Patients with TARDBP mutations have so far been classified as ALS, sometimes with frontal lobe dysfunction. A 66-year-old patient progressively developed a severe sensory disorder, followed by a motor disorder, which evolved over nine years.
Rouleau Guy A, Jousserand Guillemette, Belzil Véronique V, Camdessanché Jean-Philippe, Créac'h Christelle, Convers Philippe, Antoine Jean-Christophe   +6 more
doaj   +1 more source

TARDBP drives T‐cell acute lymphoblastic leukemia progression by binding MDM2 mRNA, involving β‐catenin pathway

The FASEB Journal
T‐cell acute lymphoblastic leukemia (T‐ALL) is a dangerous hematological malignancy. The trans‐activation response DNA binding protein (TARDBP), an RNA/DNA binding protein, is involved in the growth and metastasis of multiple cancers. However, TARDBP has
Yumiao Mai, Zhaohe Jing, Pan Sun, Yingjie Wang, Pengpeng Dong, Jian Liu   +5 more
semanticscholar   +1 more source

A targeted gene panel that covers coding, non-coding and short tandem repeat regions improves the diagnosis of patients with neurodegenerative diseases [PDF]

, 2019
Genetic testing for neurodegenerative diseases (NDs) is highly challenging because of genetic heterogeneity and overlapping manifestations. Targeted-gene panels (TGPs), coupled with next-generation sequencing (NGS), can facilitate the profiling of a ...
Au, Wing Chi, Chan, Anne Yin-Yan, Chan, Ho Yin Edwin, Chan, Larry W L, Chan, Ting-Fung, Cheng, Timothy H T, Li, Jing-Woei, Lin, Xiao, Mok, Vincent C T, Yim, Aldrin Kay-Yuen, Yu, Allen Chi-Shing, Yuen, Liz Y P   +11 more
core   +1 more source

A bioinformatic analysis identifies circadian expression of splicing factors and time-dependent alternative splicing events in the HD-MY-Z cell line [PDF]

, 2019
The circadian clock regulates key cellular processes and its dysregulation is associated to several pathologies including cancer. Although the transcriptional regulation of gene expression by the clock machinery is well described, the role of the clock ...
Abreu, Mónica, Astaburuaga, Rosario, Basti, Alireza, Genov, Nikolai, Relógio, Angela   +4 more
core   +1 more source

Distinctive pattern of temporal atrophy in patients with frontotemporal dementia and the I383V variant in TARDBP [PDF]

, 2021
Merel O. Mol, S.W.R. Nijmeijer, Jeroen van Rooij, Richard A.W. Vervenne, Yolande A.L. Pijnenburg, Sven J. van der Lee, Rick van Minkelen, Laura Donker Kaat, Annemieke J.M. Rozemüller, Mark R. Janse van Mantgem, Wouter van Rheenen, Michael A. van Es, Jan H. Veldink, Frederic A. M. Hennekam, Meike W. Vernooij, John C. van Swieten, Petra E. Cohn‐Hokke, Harro Seelaar, Elise G.P. Dopper   +18 more
openalex   +1 more source

TARDBP is a candidate diagnostic biomarker promoting tumor progression via impacting tumor immunity and tumor microenvironment

Journal of Cancer
In the realm of cancer research, particularly hepatocellular carcinoma (HCC), TAR DNA-binding protein (TARDBP) has transitioned from being associated with neurodegenerative diseases to emerging as a significant molecule in oncology due to its aberrant ...
Min-Yi Luo, Zhe Han, Jiaqi Wang, Cheng Zhong, Jiancong Chen   +4 more
semanticscholar   +1 more source

Characterization of the Human TARDBP Gene Promoter

, 2020
Abstract The expression of TDP-43, the main component of neuronal intracellular inclusions across a broad spectrum of ALS and FTD disorders, is developmentally regulated and studies in vivo have shown that TDP-43 overexpression can be toxic, even before observation of pathological aggregates.
Marco Baralle, Maurizio Romano
openaire   +1 more source

Higher neighborhood deprivation is associated with accelerated disease progression in behavioral‐variant frontotemporal degeneration

Alzheimer's &Dementia: Behavior &Socioeconomics of Aging, Volume 1, Issue 4, December 2025.
Abstract INTRODUCTION Neighborhood deprivation is associated with shorter survival, cognitive impairment, and neurodegeneration in aging and Alzheimer's disease. However, the association of neighborhood deprivation with disease progression in behavioral‐variant frontotemporal degeneration (bvFTD) is unknown.
Rory Boyle, Nadia Dehghani, Sheina Emrani, Anil R. Wadhwani, Melanie Matyi, Katheryn A. Q. Cousins, Emma Rhodes, Brian Nelson, Shana D. Stites, Sharon X. Xie, Laynie Dratch, Vivianna M. Van Deerlin, Allison Snyder, David J. Irwin, Corey T. McMillan, Lauren Massimo   +15 more
wiley   +1 more source

Molecular mechanisms linking loss of TDP-43 function to amyotrophic lateral sclerosis/frontotemporal dementia-related genes

Neuroscience Research
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are characterized by nuclear depletion and cytoplasmic aggregation of TAR DNA-binding protein-43 (TDP-43).
Yuka Koike
doaj   +1 more source