Results 1 to 10 of about 12,015 (253)

Transcriptome-based screening in TARDBP/TDP-43 knock-in motor neurons identifies the NEDD8-activating enzyme inhibitor MLN4924 [PDF]

Scientific Reports
A growing body of knowledge implicates perturbed RNA homeostasis in amyotrophic lateral sclerosis (ALS), a neurodegenerative disease that currently has no cure and few available treatments.
Sarah Lépine, Gilles Maussion, Alexandria Schneider, Angela Nauleau-Javaudin, María José Castellanos-Montiel, Georgina Jiménez Ambriz, Dan Spiegelman, Narges Abdian, Anna Krystina Franco-Flores, Ghazal Haghi, Lale Gursu, Michael R. Fiorini, Allison A. Dilliott, Sali M. K. Farhan, Mathilde Chaineau, Thomas M. Durcan   +15 more
doaj   +4 more sources

Identification of TARDBP Gly298Ser as a founder mutation for amyotrophic lateral sclerosis in Southern China [PDF]

BMC Medical Genomics, 2022
Background Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease characterized by predominant impairment of upper and lower motor neurons. Over 50 TARDBP mutations have been reported in both familial (FALS) and sporadic ALS (SALS)
Fanxi Xu, Sen Huang, Xu-Ying Li, Jianing Lin, Xiuli Feng, Shu Xie, Zhanjun Wang, Xian Li, Junge Zhu, Hong Lai, Yanming Xu, Xusheng Huang, Xiaoli Yao, Chaodong Wang   +13 more
doaj   +3 more sources

CRISPR/Cas9-Mediated TARDBP Knockout Reduces Triacylglycerol Content and Key Milk Fat Metabolism Gene Expression in MAC-T Cells [PDF]

Animals
TARDBP mediates milk fat secretion in mice by binding to UG-rich sequences in the 3′ untranslated region (UTR) of BTN1A1 and XDH mRNA and enhancing their mRNA stability. However, its role in bovine milk lipid metabolism remains unclear.
Yaran Zhang, Qinglan Zhang, Yaping Gao, Yao Xiao, Jinpeng Wang, Chunhong Yang, Zhihua Ju, Xiaochao Wei, Xiuge Wang, Qiang Jiang, Jinming Huang   +10 more
doaj   +3 more sources

An analysis of variants in TARDBP in the Korean population with amyotrophic lateral sclerosis: comparison with previous data [PDF]

Scientific Reports, 2023
The TARDBP gene variant is a known major cause of amyotrophic lateral sclerosis (ALS), with limited reports of Korean patients with ALS harboring the variants in TARDBP.
Wonjae Sung, Jin-Ah Kim, Yong Sung Kim, Jinseok Park, Ki-Wook Oh, Jung-Joon Sung, Chang-Seok Ki, Young-Eun Kim, Seung Hyun Kim   +8 more
doaj   +3 more sources

FUS and TARDBP but not SOD1 interact in genetic models of amyotrophic lateral sclerosis.

PLoS Genetics, 2011
Mutations in the SOD1 and TARDBP genes have been commonly identified in Amyotrophic Lateral Sclerosis (ALS). Recently, mutations in the Fused in sarcoma gene (FUS) were identified in familial (FALS) ALS cases and sporadic (SALS) patients.
Edor Kabashi, Valérie Bercier, Alexandra Lissouba, Meijiang Liao, Edna Brustein, Guy A Rouleau, Pierre Drapeau   +6 more
doaj   +2 more sources

Profiling morphologic MRI features of motor neuron disease caused by TARDBP mutations [PDF]

Frontiers in Neurology, 2022
ObjectiveMutations in the TARDBP gene are a rare cause of genetic motor neuron disease (MND). Morphologic MRI characteristics of MND patients carrying this mutation have been poorly described. Our objective was to investigate distinctive clinical and MRI
Edoardo Gioele Spinelli, Edoardo Gioele Spinelli, Alma Ghirelli, Alma Ghirelli, Alma Ghirelli, Nilo Riva, Nilo Riva, Elisa Canu, Veronica Castelnovo, Teuta Domi, Laura Pozzi, Paola Carrera, Vincenzo Silani, Vincenzo Silani, Adriano Chiò, Massimo Filippi, Massimo Filippi, Massimo Filippi, Massimo Filippi, Massimo Filippi, Federica Agosta, Federica Agosta, Federica Agosta   +22 more
doaj   +2 more sources

Absence of mutations in exon 6 of the TARDBP gene in 207 Chinese patients with sporadic amyotrohic lateral sclerosis. [PDF]

PLoS ONE, 2013
Mutations in the TARDBP gene, which encodes the Tar DNA binding protein, have been shown to causes of both familial amyotrophic lateral sclerosis (FALS) and sporadic ALS (SALS). Recently, several novel TARDBP exon 6 mutants have been reported in patients
Cheng-hui Ye, Xi-lin Lu, Min-ying Zheng, Jun Zhen, Zhi-Ping Li, Lei Shi, Zhi-yong Liu, Lu-yang Feng, Zhong Pei, Xiao-li Yao   +9 more
doaj   +3 more sources

Generation of an induced pluripotent stem cell line (UCSCi002-A) from a patient with a variant in TARDBP gene associated with familial amyotrophic lateral sclerosis and frontotemporal dementia

Stem Cell Research, 2022
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that selectively affects motor neurons. In 20% of cases, ALS appears in comorbidity with frontotemporal dementia (FTD).
Francesco Martello, Serena Lattante, Paolo Niccolò Doronzio, Amelia Conte, Giulia Bisogni, Daniela Orteschi, Marco Luigetti, Maria Alessandra Marrucci, Marcella Zollino, Mario Sabatelli, Giuseppe Marangi   +10 more
doaj   +2 more sources

High frequency of the TARDBP p.M337 V mutation among south-eastern Chinese patients with familial amyotrophic lateral sclerosis [PDF]

BMC Neurology, 2018
Background Amyotrophic lateral sclerosis (ALS) is a devastating motor neuron disease characterized by substantial clinical and genetic heterogeneity. Thus far, only a few TARDBP-ALS families have been reported in China, and no mutation analysis has been ...
Guo-rong Xu, Wei Hu, Ling-Ling Zhan, Chong Wang, Liu-Qing Xu, Min-Ting Lin, Wan-Jin Chen, Ning Wang, Qi-Jie Zhang   +8 more
doaj   +2 more sources

Mutant TDP-43 Causes Early-Stage Dose-Dependent Motor Neuron Degeneration in a TARDBP Knockin Mouse Model of ALS [PDF]

Cell Reports, 2019
Summary: Rare mutations in TARDBP, the gene encoding TDP-43, cause amyotrophic lateral sclerosis (ALS), and TDP-43 pathology is seen in a large majority of ALS patients, suggesting a central pathogenic role of this regulatory protein. The consequences of
Sarah Y. Ebstein, Ilona Yagudayeva, Neil A. Shneider   +2 more
doaj   +2 more sources