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Mutations in the Profilin 1 Gene Cause Familial Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis (ALS) is a late-onset neurodegenerative disorder resulting from motor neuron death. Approximately 10% of cases are familial (FALS), typically with a dominant inheritanceExpand
TDP‐43 is recruited to stress granules in conditions of oxidative insult
Transactive response DNA‐binding protein 43 (TDP‐43) forms abnormal ubiquitinated and phosphorylated inclusions in brain tissues from patients with amyotrophic lateral sclerosis (ALS) andExpand
High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis
Recent studies identified rare missense mutations in amyotrophic lateral sclerosis (ALS) patients in the TARDBP gene encoding TAR DNA binding protein (TDP)‐43, the major protein of the ubiquitinatedExpand
TDP-43 and FUS RNA-binding Proteins Bind Distinct Sets of Cytoplasmic Messenger RNAs and Differently Regulate Their Post-transcriptional Fate in Motoneuron-like Cells*
Background: The RNA-binding proteins TDP-43 and FUS form abnormal aggregates in patients with amyotrophic lateral sclerosis and frontotemporal lobar dementia. Results: We identified the mRNAsExpand
Discovery of a Biomarker and Lead Small Molecules to Target r(GGGGCC)-Associated Defects in c9FTD/ALS
A repeat expansion in C9ORF72 causes frontotemporal dementia and amyotrophic lateral sclerosis (c9FTD/ALS). RNA of the expanded repeat (r(GGGGCC)exp) forms nuclear foci or undergoes repeat-associatedExpand
Mutations of FUS gene in sporadic amyotrophic lateral sclerosis
Background Mutations in the FUS gene have recently been discovered to be a major cause of familial amyotrophic lateral sclerosis (FALS). Objective To determine the identity and frequency of FUS geneExpand
Physiological functions and pathobiology of TDP‐43 and FUS/TLS proteins
The multiple roles played by RNA binding proteins in neurodegeneration have become apparent following the discovery of TAR DNA binding protein 43 kDa (TDP‐43) and fused in sarcoma/translocated inExpand
Analysis of FUS gene mutation in familial amyotrophic lateral sclerosis within an Italian cohort
Objective: Mutations in the FUS gene on chromosome 16 have been recently discovered as a cause of familial amyotrophic lateral sclerosis (FALS). This study determined the frequency and identities ofExpand
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene
To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, weExpand
Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis
To elucidate the genetic architecture of amyotrophic lateral sclerosis (ALS) and find associated loci, we assembled a custom imputation reference panel from whole-genome-sequenced patients with ALSExpand