scholarly journals Characterization of TAR DNA Binding Protein (TDP‐43) Variants to Elucidate the role of C Terminal Fragmentation in Amyotrophic Lateral Sclerosis

2021 ◽  
Vol 35 (S1) ◽  
Author(s):  
Brianna Reiber ◽  
Audrey Shor
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Dna Binding ◽  
Binding Protein ◽  
Dna Binding Protein ◽  
Lateral Sclerosis

The role of mutant TAR DNA-binding protein 43 in amyotrophic lateral sclerosis and frontotemporal lobar degeneration

2011 ◽  
Vol 39 (4) ◽  
pp. 954-959 ◽  
Author(s):  
Jonathan Janssens ◽  
Gernot Kleinberger ◽  
Hans Wils ◽  
Christine Van Broeckhoven
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Dna Binding ◽  
Frontotemporal Lobar Degeneration ◽  
Binding Protein ◽  
Dna Binding Protein ◽  
Current Status ◽  
Disease Spectrum ◽  
Pathological Disease ◽  
Lateral Sclerosis

TDP-43 (TAR DNA-binding protein 43) has been identified as a key protein of ubiquitinated inclusions in brains of patients with ALS (amyotrophic lateral sclerosis) or FTLD (frontotemporal lobar degeneration), defining a new pathological disease spectrum. Recently, coding mutations have been identified in the TDP-43 gene (TARDBP), which further confirmed the pathogenic nature of the protein. Today, several animal models have been generated to gain more insight into the disease-causing pathways of the FTLD/ALS spectrum. This mini-review summarizes the current status of TDP-43 models, with a focus on mutant TDP-43.

Cerebrospinal Fluid TAR DNA-Binding Protein 43 Combined with Tau Proteins as a Candidate Biomarker for Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Spectrum Disorders

2017 ◽  
Vol 44 (3-4) ◽  
pp. 144-152 ◽  
Author(s):  
Mara Bourbouli ◽  
Michael Rentzos ◽  
Anastasia Bougea ◽  
Vasiliki Zouvelou ◽  
Vasilios C. Constantinides ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Cerebrospinal Fluid ◽  
Dna Binding ◽  
Frontotemporal Dementia ◽  
Tau Protein ◽  
Binding Protein ◽  
Dna Binding Protein ◽  
Amyloid Peptide ◽  
Spectrum Disorders ◽  
Lateral Sclerosis

Background: Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are nowadays recognized as spectrum disorders with a molecular link, the TAR DNA-binding protein 43 (TDP-43), rendering it a surrogate biomarker for these disorders. Methods: We measured cerebrospinal fluid (CSF) levels of TDP-43, beta-amyloid peptide with 42 amino acids (Aβ42), total tau protein (τT), and tau protein phosphorylated at threonine 181 (τP-181) in 32 patients with ALS, 51 patients with FTD, and 17 healthy controls. Double-sandwich commercial enzyme-linked immunosorbent assays were used for measurements. Results: Both ALS and FTD patients presented with higher TDP-43 and τT levels compared to the control group. The combination of biomarkers in the form of the TDP-43 × τT / τP-181 formula achieved the best discrimination between ALS or FTD and controls, with sensitivities and specificities >0.8. Conclusion: Combined analysis of TDP-43, τT, and τP-181 in CSF may be useful for the antemortem diagnosis of ALS and FTD.

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