Results 21 to 30 of about 12,015 (253)

Association between novel TARDBP mutations and Chinese patients with amyotrophic lateral sclerosis [PDF]

BMC Medical Genetics, 2010
Background TARDBP mutations have been reported in patients with amyotrophic lateral sclerosis (ALS) in different populations except Chinese. The present aim is to investigate the association between TARDBP mutations and Chinese patients with ALS. Methods
Zheng Qiao-Juan, Qiao Kai, Chen Yan, Wu Jian-Jun, Sun Yi-Min, Wang Jin-Yang, Xiong Hui-Ling, Zhao Gui-xian, Wu Zhi-Ying   +8 more
doaj   +3 more sources

Epigenetic regulation of TDP-43: potential implications for amyotrophic lateral sclerosis [PDF]

Frontiers in Molecular Medicine
Amyotrophic lateral sclerosis (ALS) is a multifactorial neurodegenerative disease characterized by the progressive degeneration of motor neurons. One of the key pathogenic factors implicated in ALS is TDP-43 (TAR DNA-binding protein 43), an RNA-binding ...
D. Y. Mengistu, M. Terribili, C. Pellacani, L. Ciapponi, M. Marzullo, M. Marzullo   +5 more
doaj   +2 more sources

Evaluating the contribution of the gene TARDBP in Italian patients with amyotrophic lateral sclerosis [PDF]

European Journal of Neurology, 2023
Genetic variants in the gene TARDBP, encoding TDP‐43 protein, are associated with amyotrophic lateral sclerosis (ALS) in familial (fALS) and sporadic (sALS) cases.
Serena Lattante, Mario Sabatelli, Giulia Bisogni, Giuseppe Marangi, Paolo Niccolò Doronzio, Francesco Martello, Anna Gloria Renzi, Elda Del Giudice, Alberta Leon, Paola Cimbolli, Daniela Marchione, Umberto Costantino, Gabriele Lucioli, Daniela Bernardo, Emiliana Meleo, Agata Katia Patanella, Ângela Romano, Marcella Zollino, Amelia Conte   +18 more
openalex   +2 more sources

Homozygous ALS-linked mutations in TARDBP/TDP-43 lead to hypoactivity and synaptic abnormalities in human iPSC-derived motor neurons

iScience
Summary: Cytoplasmic mislocalization and aggregation of the RNA-binding protein TDP-43 is a pathological hallmark of the motor neuron (MN) disease amyotrophic lateral sclerosis (ALS).
Sarah Lépine, Angela Nauleau-Javaudin, Eric Deneault, Carol X.-Q. Chen, Narges Abdian, Anna Krystina Franco-Flores, Ghazal Haghi, María José Castellanos-Montiel, Gilles Maussion, Mathilde Chaineau, Thomas Martin Durcan   +10 more
doaj   +2 more sources

Broadening the phenotype of TARDBP mutations: the TARDBP Ala382Thr mutation and Parkinson’s disease in Sardinia [PDF]

neurogenetics, 2011
Mutations in the TARDBP gene are a cause of autosomal dominant amyotrophic lateral sclerosis (ALS) and of frontotemporal lobar degeneration (FTLD), but they have not been found so far in patients with Parkinson's disease (PD). A founder TARDBP mutation (p.Ala382Thr) was recently identified as the cause of ~30% of ALS cases in Sardinia, a Mediterranean ...
Marialuisa Quadri, Giovanni Cossu, Valeria Saddi, Erik Simons, Daniela Murgia, Maurizio Melis, Anna Ticca, Ben A. Oostra, Vincenzo Bonifati   +8 more
openalex   +5 more sources

Generation of a human induced pluripotent stem cell line (UQi001-A-1) edited with the CRISPR-Cas9 system to carry the heterozygous TARDBP c.1144G > A (p.A382T) missense mutation

Stem Cell Research, 2023
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease in which the TDP-43 protein is believed to play a central role in disease pathophysiology.
Timothy J. Tracey, Leanne Jiang, Melinder K. Gill, Samara N. Ranie, Dmitry A. Ovchinnikov, Ernst J. Wolvetang, Shyuan T. Ngo   +6 more
doaj   +2 more sources

Single-cell RNA sequencing across isogenic FUS and TARDBP ALS lines reveals a shared early mitochondrial dysfunction unique to motor neurons [PDF]

bioRxiv, 2023
Christoph Schweingruber, Jik Nijssen, Jonas Mechtersheimer, Stefan Reber, Mélanie Lebœuf, Niamh L. O’Brien, Irene Mei, Erin C. Hedges, Michaela Keuper, Julio Aguila Benitez, Vlad Radoi, Martin Jastroch, Marc‐David Ruepp, Eva Hedlund   +13 more
openalex   +2 more sources

Semantic behavioral variant frontotemporal dementia and semantic dementia associated with TARDBP mutations

Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
Frontotemporal dementia (FTD) is a highly heritable group of neurodegenerative disorders, characterized by varying clinical and pathological features. TARDBP gene has been described worldwide within the FTD/ALS spectrum but its association with right and
Giuseppe Piga, Laura Fadda, G. Borghero, A. Maccabeo, Francesca Pala, M. R. Murru, Sabrina Giglio, M. Puligheddu, G. Floris   +8 more
semanticscholar   +3 more sources

SomaticTARDBPvariants as a cause of semantic dementia [PDF]

Brain, 2020
AbstractThe aetiology of late-onset neurodegenerative diseases is largely unknown. Here we investigated whether de novo somatic variants for semantic dementia can be detected, thereby arguing for a more general role of somatic variants in neurodegenerative disease. Semantic dementia is characterized by a non-familial occurrence, early onset (<65
Jeroen van Rooij, Merel O. Mol, Shamiram Melhem, Pelle van der Wal, Pascal Arp, Francesca Paron, Laura Donker Kaat, Harro Seelaar, Suzanne S. M. Miedema, Takuya Oshima, Bart J. L. Eggen, André G. Uitterlinden, Joyce B. J. van Meurs, Ronald E. van Kesteren, August B. Smit, Emanuele Buratti, John C. van Swieten, John C van Swieten   +17 more
openalex   +6 more sources

Novel TARDBP mutations in Nordic ALS patients [PDF]

Journal of Human Genetics, 2012
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative syndrome primarily affecting the upper and lower motor neurons. A characteristic neuropathological finding in ALS patients is neuronal inclusions positive for TAR DNA-binding protein 43 (TDP-43).
Huei‐Hsin Chiang, Peter M. Andersen, Ole‐Bjørn Tysnes, Ole Gredal, Peter Christensen, Caroline Graff   +5 more
openalex   +4 more sources