Emerging insights into the complex genetics and pathophysiology of amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis is a fatal neurodegenerative disease. The discovery of genes
associated with amyotrophic lateral sclerosis, commencing with SOD1 in 1993, started fairly …
associated with amyotrophic lateral sclerosis, commencing with SOD1 in 1993, started fairly …
Receptor-interacting protein kinase 1 (RIPK1) as a therapeutic target
Receptor-interacting serine/threonine-protein kinase 1 (RIPK1) is a key mediator of cell
death and inflammation. The unique hydrophobic pocket in the allosteric regulatory domain …
death and inflammation. The unique hydrophobic pocket in the allosteric regulatory domain …
Necroptosis and RIPK1-mediated neuroinflammation in CNS diseases
Apoptosis is crucial for the normal development of the nervous system, whereas neurons in
the adult CNS are relatively resistant to this form of cell death. However, under pathological …
the adult CNS are relatively resistant to this form of cell death. However, under pathological …
Genomic structural equation modelling provides insights into the multivariate genetic architecture of complex traits
Genetic correlations estimated from genome-wide association studies (GWASs) reveal
pervasive pleiotropy across a wide variety of phenotypes. We introduce genomic structural …
pervasive pleiotropy across a wide variety of phenotypes. We introduce genomic structural …
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 …
carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 …
The polygenic architecture of schizophrenia—rethinking pathogenesis and nosology
Schizophrenia is a severe psychiatric disorder with considerable morbidity and mortality.
Although the past two decades have seen limited improvement in the treatment of …
Although the past two decades have seen limited improvement in the treatment of …
New insights from the last decade of research in psychiatric genetics: discoveries, challenges and clinical implications
Psychiatric genetics has made substantial progress in the last decade, providing new
insights into the genetic etiology of psychiatric disorders, and paving the way for precision …
insights into the genetic etiology of psychiatric disorders, and paving the way for precision …
Necroptosis in development and diseases
Necroptosis, a form of regulated necrotic cell death mediated by RIPK1 (receptor-interacting
protein kinase 1) kinase activity, RIPK3, and MLKL (mixed-lineage kinase domain-like …
protein kinase 1) kinase activity, RIPK3, and MLKL (mixed-lineage kinase domain-like …
Recent advances in the diagnosis and prognosis of amyotrophic lateral sclerosis
The diagnosis of amyotrophic lateral sclerosis can be challenging due to its heterogeneity in
clinical presentation and overlap with other neurological disorders. Diagnosis early in the …
clinical presentation and overlap with other neurological disorders. Diagnosis early in the …
Lifetime risk and heritability of amyotrophic lateral sclerosis
M Ryan, M Heverin, RL McLaughlin… - JAMA neurology, 2019 - jamanetwork.com
Importance Heritability describes the proportion of variance in the risk of developing a
condition that is explained by genetic factors. Although amyotrophic lateral sclerosis (ALS) is …
condition that is explained by genetic factors. Although amyotrophic lateral sclerosis (ALS) is …