Mutational analysis of TARDBP in neurodegenerative diseases.
Ontology highlight
ABSTRACT:
SUBMITTER: Ticozzi N
PROVIDER: S-EPMC2889148 | biostudies-literature | 2011 Nov
REPOSITORIES: biostudies-literature
Publications
Mutational analysis of TARDBP in neurodegenerative diseases.
Ticozzi Nicola N LeClerc Ashley Lyn AL van Blitterswijk Marka M Keagle Pamela P McKenna-Yasek Diane M DM Sapp Peter C PC Silani Vincenzo V Wills Anne-Marie AM Brown Robert H RH Landers John E JE
Neurobiology of aging 20091223 11
Neurodegenerative diseases are often characterized by the presence of aggregates of misfolded proteins. TDP-43 is a major component of these aggregates in amyotrophic lateral sclerosis (ALS), but has also been observed in Alzheimer's (AD) and Parkinson's Diseases (PD). In addition, mutations in the TARDBP gene, encoding TDP-43, have been found to be a significant cause of familial ALS (FALS). All mutations, except for one, have been found in exon 6. To confirm this observation in ALS and to inve ...[more]
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