Condition: Amyotrophic Lateral Sclerosis 4, Juvenile


rs121434378 in SETX gene and Amyotrophic Lateral Sclerosis 4, Juvenile PMID 24105744 2013 A SUMO-dependent interaction between Senataxin and the exosome, disrupted in the neurodegenerative disease AOA2, targets the exosome to sites of transcription-induced DNA damage.

PMID 15106121 2004 To identify the molecular basis of ALS4, we tested 19 genes within the ALS4 interval and detected missense mutations (T3I, L389S, and R2136H) in the Senataxin gene (SETX).

PMID 14770181 2004 Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.

PMID 24244371 2013 Protein interaction analysis of senataxin and the ALS4 L389S mutant yields insights into senataxin post-translational modification and uncovers mutant-specific binding with a brain cytoplasmic RNA-encoded peptide.

PMID 21190393 2011 Senataxin mutations and amyotrophic lateral sclerosis.

PMID 15106121 2004 DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4).

PMID 15106121 2004 To identify the molecular basis of ALS4, we tested 19 genes within the ALS4 interval and detected missense mutations (T3I, L389S, and R2136H) in the Senataxin gene (SETX).

PMID 21438761 2011 Mutation in the senataxin gene found in a patient affected by familial ALS with juvenile onset and slow progression.

PMID 24244371 2013 We further found that L389S senataxin interacts with other proteins containing regions of conserved homology with the BCYRN1 reverse complement-encoded peptide, suggesting that such aberrant protein interactions may contribute to L389S ALS4 disease pathogenesis.

PMID 22088787 2012 SETX gene mutation in a family diagnosed autosomal dominant proximal spinal muscular atrophy.

PMID 21576111 2011 Senataxin modulates neurite growth through fibroblast growth factor 8 signalling.

PMID 24814856 2014 Ataxia with oculomotor apraxia type 2 fibroblasts exhibit increased susceptibility to oxidative DNA damage.

PMID 19141356 2009 Ataxia with oculomotor apraxia type 2: a clinical and genetic study of 19 patients.

PMID 19696032 2009 Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients.

PMID 17159128 2006 Novel mutations in the senataxin DNA/RNA helicase domain in ataxia with oculomotor apraxia 2.