TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis
Top Cited Papers
- 30 March 2008
- journal article
- research article
- Published by Springer Nature in Nature Genetics
- Vol. 40 (5) , 572-574
- https://doi.org/10.1038/ng.132
Abstract
Recently, TDP-43 was identified as a key component of ubiquitinated aggregates in amyotrophic lateral sclerosis (ALS), an adult-onset neurological disorder that leads to the degeneration of motor neurons. Here we report eight missense mutations in nine individuals—six from individuals with sporadic ALS (SALS) and three from those with familial ALS (FALS)—and a concurring increase of a smaller TDP-43 product. These findings further corroborate that TDP-43 is involved in ALS pathogenesis.Keywords
This publication has 15 references indexed in Scilit:
- Functional multivesicular bodies are required for autophagic clearance of protein aggregates associated with neurodegenerative diseaseThe Journal of cell biology, 2007
- TDP-43: a novel neurodegenerative proteinopathyCurrent Opinion in Neurobiology, 2007
- Pathological TDP‐43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutationsAnnals of Neurology, 2007
- TDP‐43 immunoreactivity in hippocampal sclerosis and Alzheimer's diseaseAnnals of Neurology, 2007
- TDP43 is a human low molecular weight neurofilament (hNFL) mRNA-binding proteinMolecular and Cellular Neuroscience, 2007
- TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosisBiochemical and Biophysical Research Communications, 2006
- FG-Rich Repeats of Nuclear Pore Proteins Form a Three-Dimensional Meshwork with Hydrogel-Like PropertiesScience, 2006
- A century-old debate on protein aggregation and neurodegeneration enters the clinicNature, 2006
- Ubiquitinated TDP-43 in Frontotemporal Lobar Degeneration and Amyotrophic Lateral SclerosisScience, 2006
- ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosisNature Genetics, 2006