Amyotrophic lateral sclerosis: translating genetic discoveries into therapies
Recent advances in sequencing technologies and collaborative efforts have led to
substantial progress in identifying the genetic causes of amyotrophic lateral sclerosis (ALS) …
substantial progress in identifying the genetic causes of amyotrophic lateral sclerosis (ALS) …
Genetics of amyotrophic lateral sclerosis: seeking therapeutic targets in the era of gene therapy
N Suzuki, A Nishiyama, H Warita, M Aoki - Journal of human genetics, 2023 - nature.com
Amyotrophic lateral sclerosis (ALS) is an intractable disease that causes respiratory failure
leading to mortality. The main locus of ALS is motor neurons. The success of antisense …
leading to mortality. The main locus of ALS is motor neurons. The success of antisense …
New insights into the genetic etiology of Alzheimer's disease and related dementias
Abstract Characterization of the genetic landscape of Alzheimer's disease (AD) and related
dementias (ADD) provides a unique opportunity for a better understanding of the associated …
dementias (ADD) provides a unique opportunity for a better understanding of the associated …
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 …
Immune dysregulation in amyotrophic lateral sclerosis: mechanisms and emerging therapies
DR Beers, SH Appel - The Lancet Neurology, 2019 - thelancet.com
Neuroinflammation is a common pathological feature of many neurodegenerative diseases,
including amyotrophic lateral sclerosis (ALS), and is characterised by activated CNS …
including amyotrophic lateral sclerosis (ALS), and is characterised by activated CNS …
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
W Van Rheenen, RAA Van Der Spek, MK Bakker… - Nature …, 2021 - nature.com
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with a lifetime risk
of one in 350 people and an unmet need for disease-modifying therapies. We conducted a …
of one in 350 people and an unmet need for disease-modifying therapies. We conducted a …
Improved precision of epigenetic clock estimates across tissues and its implication for biological ageing
Background DNA methylation changes with age. Chronological age predictors built from
DNA methylation are termed 'epigenetic clocks'. The deviation of predicted age from the …
DNA methylation are termed 'epigenetic clocks'. The deviation of predicted age from the …
Immunity in amyotrophic lateral sclerosis: Blurred lines between excessive inflammation and inefficient immune responses
LC Béland, A Markovinovic, H Jakovac… - Brain …, 2020 - academic.oup.com
Despite wide genetic, environmental and clinical heterogeneity in amyotrophic lateral
sclerosis, a rapidly fatal neurodegenerative disease targeting motoneurons …
sclerosis, a rapidly fatal neurodegenerative disease targeting motoneurons …
Recent updates on the genetics of amyotrophic lateral sclerosis and frontotemporal dementia
L Kirola, A Mukherjee, M Mutsuddi - Molecular Neurobiology, 2022 - Springer
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) primarily affect the
motor and frontotemporal areas of the brain, respectively. These disorders share clinical …
motor and frontotemporal areas of the brain, respectively. These disorders share clinical …
Diverse targets of SMN2-directed splicing-modulating small molecule therapeutics for spinal muscular atrophy
Designing an RNA-interacting molecule that displays high therapeutic efficacy while
retaining specificity within a broad concentration range remains a challenging task …
retaining specificity within a broad concentration range remains a challenging task …