Results 11 to 20 of about 12,015 (253)

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

Nature Communications
Mutations in FUS and TARDBP cause amyotrophic lateral sclerosis (ALS), but the precise mechanisms of selective motor neuron degeneration remain unresolved.
Christoph Schweingruber, Jik Nijssen, Jonas Mechtersheimer, Stefan Reber, Mélanie Lebœuf, Niamh L. O’Brien, Irene Mei, Erin Hedges, Michaela Keuper, Julio Aguila Benitez, Vlad Radoi, Martin Jastroch, Marc-David Ruepp, Eva Hedlund   +13 more
doaj   +3 more sources

Deregulation of Plasma microRNA Expression in a TARDBP-ALS Family

Biomolecules, 2023
TDP-43 intracellular aggregates are a pathogenic sign of most amyotrophic lateral sclerosis (ALS) cases. Familial ALS, brought on by TARDBP gene mutations, emphasizes the relevance of this altered protein in pathophysiology.
Paola Ruffo, Stefania Catalano, Vincenzo La Bella, Francesca Luisa Conforti   +3 more
doaj   +5 more sources

TARDBP (TDP‐43) Knock‐in Zebrafish Display a Late‐Onset Motor Phenotype and Loss of Large Spinal Cord Motor Neurons [PDF]

Annals of Neurology, EarlyView.
OBJECTIVE Mutations in TARDBP (encoding TDP-43) are associated with the neurodegenerative disease amyotrophic lateral sclerosis (ALS) and include familial missense mutations where there are a lack of models and mechanisms examining how they are ...
Ziyaan A. Harji, Christian J. Rampal, Esteban C. Rodríguez, Virginie Petel Légaré, Alexandra Lissouba, Sabrina Semmler, Meijiang Liao, Jay P. Ross, Guy A. Rouleau, Christine Vande Velde, Gary A.B. Armstrong   +10 more
semanticscholar   +3 more sources

Two Families With Amyotrophic Lateral Sclerosis Founder Mutation TARDBP p.G298S in Hong Kong. [PDF]

Cureus
Amyotrophic lateral sclerosis (ALS), which is characterized by progressive deterioration of upper and lower motor neurons resulting in severe muscle atrophy, respiratory failure, and death, is a rare and fatal neurodegenerative disease.
Yip MK, Au Yeung M, Poon WT.
europepmc   +4 more sources

TARDBP Mutations in Facial-Onset Sensory and Motor Neuronopathy [PDF]

Neurology Genetics
Objectives Facial-onset sensory and motor neuronopathy (FOSMN) is a rare neuromuscular disorder characterized by progressive facial sensory impairment followed by motor dysfunction in a rostro-caudal distribution.
Vincent Picher‐Martel, Suma Babu, Anthony A. Amato   +2 more
semanticscholar   +4 more sources

Gene targeting of mouse Tardbp negatively affects Masp2 expression. [PDF]

PLoS ONE, 2014
Amyotrophic Lateral Sclerosis (ALS) is a devastating adult onset neurodegenerative disease affecting both upper and lower motor neurons. TDP-43, encoded by the TARDBP gene, was identified as a component of motor neuron cytoplasmic inclusions in both ...
Samar Dib, Shangxi Xiao, Denise Miletic, Janice Robertson   +3 more
doaj   +4 more sources

Characterization of the human TARDBP gene promoter [PDF]

Scientific Reports, 2021
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 ...
Marco Baralle, Maurizio Romano
doaj   +4 more sources

A novel gene, TARDBP, and the protein it encodes can predict glioma patient prognosis and establish a prediction model

BMC Neurology, 2023
Background TDP-43 (43-kD transactive response DNA-binding protein) is a DNA-/RNA-binding protein that plays an important role in several nervous system diseases, such as amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
Xu Fang, Fan Wu, Chen Jiang
doaj   +2 more sources

Mutation within TARDBP leads to Frontotemporal Dementia without motor neuron disease. [PDF]

Human Mutation, 2009
2009 AUG 4.
Agosti, C, Alberici, A, Archetti, S, Bonvicini, C, Borroni, B, Buratti, E, Di Luca, M, Gennarelli, M, Padovani, A., Papetti, A, Stuani, C   +10 more
core   +6 more sources

Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis.

PLoS Genetics, 2008
The TAR DNA-binding protein 43 (TDP-43) has been identified as the major disease protein in amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration with ubiquitin inclusions (FTLD-U), defining a novel class of neurodegenerative ...
Nicola J Rutherford, Yong-Jie Zhang, Matt Baker, Jennifer M Gass, Nicole A Finch, Ya-Fei Xu, Heather Stewart, Brendan J Kelley, Karen Kuntz, Richard J P Crook, Jemeen Sreedharan, Caroline Vance, Eric Sorenson, Carol Lippa, Eileen H Bigio, Daniel H Geschwind, David S Knopman, Hiroshi Mitsumoto, Ronald C Petersen, Neil R Cashman, Mike Hutton, Christopher E Shaw, Kevin B Boylan, Bradley Boeve, Neill R Graff-Radford, Zbigniew K Wszolek, Richard J Caselli, Dennis W Dickson, Ian R Mackenzie, Leonard Petrucelli, Rosa Rademakers   +30 more
doaj   +2 more sources