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Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis
Tight genetic linkage between FALS and a gene that encodes a cytosolic, Cu/Zn-binding superoxide dismutase (SOD1), a homodimeric metalloenzyme that catalyzes the dismutation of the toxic superoxide anion O–2 to O2 and H2O2 is reported.
Mutations in the FUS/TLS Gene on Chromosome 16 Cause Familial Amyotrophic Lateral Sclerosis
Neuronal cytoplasmic protein aggregation and defective RNA metabolism thus appear to be common pathogenic mechanisms involved in ALS and possibly in other neurodegenerative disorders.
TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis
Findings further corroborate that TDP-43 is involved in ALS pathogenesis and reports eight missense mutations in nine individuals—six from individuals with sporadic ALS and three from those with familial ALS (FALS)—and a concurring increase of a smaller T DP-43 product.
Gene fusion with an ETS DNA-binding domain caused by chromosome translocation in human tumours
Phylogenetically conserved restriction fragments in the vicinity of EWSR1 and EWSR2, the genomic regions where the breakpoints of chromosome 22 and chromosome 11 are, respectively, have allowed identification of transcribed sequences from these regions and has indicated that a hybrid transcript might be generated by the translocation.
Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways
A moderate-scale sequencing study aimed at increasing the number of genes known to contribute to predisposition for ALS found several known ALS genes were found to be associated, and TBK1 (the gene encoding TANK-binding kinase 1) was identified as an ALS gene.
Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy
A novel gene, EPM2A, is identified at chromosome 6q24 that encodes a protein with consensus amino acid sequence indicative of a protein tyrosine phosphatase (PTP) that is predicted to cause deleterious effects in the putative protein product, named laforin, resulting in Lafora's disease.
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs
Empirical evidence of shared genetic etiology for psychiatric disorders can inform nosology and encourages the investigation of common pathophysiologies for related disorders.
Variation in genome-wide mutation rates within and between human families
This is the first direct comparative analysis of male and female germline mutation rates from the complete genome sequences of two parent-offspring trios, and observations suggest considerable variation in mutation rates within and between families.
The FERM domain: a unique module involved in the linkage of cytoplasmic proteins to the membrane.
Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy
It is reported that an Ala322Asp mutation in GABRA1, encoding the α1 subunit of the γ-aminobutyric acid receptor subtype A (GABAA), is found in affected individuals of a large French Canadian family with juvenile myoclonic epilepsy.