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Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis
TLDR
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.
Molecular biology of amyotrophic lateral sclerosis: insights from genetics
TLDR
An overview of the mechanisms for motor neuron death and the role of non-neuronal cells in ALS is presented and new insights are generated into the diverse molecular pathways involved in ALS pathogenesis.
Decoding ALS: from genes to mechanism
TLDR
Extraordinary progress in understanding the biology of ALS provides new reasons for optimism that meaningful therapies will be identified, and emerging themes include dysfunction in RNA metabolism and protein homeostasis, with specific defects in nucleocytoplasmic trafficking.
Wild-type and mutant SOD1 share an aberrant conformation and a common pathogenic pathway in ALS
TLDR
It is suggested that wild-type S OD1 can be pathogenic in SALS and an SOD1-dependent pathogenic mechanism common to FALS and SALS is identified.
Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways
TLDR
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.
Mutant FUS proteins that cause amyotrophic lateral sclerosis incorporate into stress granules.
TLDR
A novel ALS truncation mutant (R495X) is reported that leads to a relatively severe ALS clinical phenotype compared with FUS missense mutations, and a potential link between FUS mutations and cellular pathways involved in stress responses that may be relevant to altered motor neuron homeostasis in ALS is demonstrated.
ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis
TLDR
The finding of seven missense mutations in 15 individuals, of whom four had familial ALS and 11 apparently 'sporadic' ALS, provides further evidence that variations in hypoxia-inducible genes have an important role in motor neuron degeneration.
Mutations in the Profilin 1 Gene Cause Familial Amyotrophic Lateral Sclerosis
TLDR
It is shown that mutations within the profilin 1 (PFN1) gene can cause FALS, and cytoskeletal pathway alterations contribute to ALS pathogenesis.
dSarm/Sarm1 Is Required for Activation of an Injury-Induced Axon Death Pathway
TLDR
It is shown that loss of the Drosophila Toll receptor adaptor dSarm cell-autonomously suppresses Wallerian degeneration for weeks after axotomy, providing direct evidence that axons actively promote their own destruction after injury and identify dSARM/Sarm1 as a member of an ancient axon death signaling pathway.
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