[HTML][HTML] The genetic architecture of ALS
A Shatunov, A Al-Chalabi - Neurobiology of Disease, 2021 - Elsevier
Amyotrophic lateral sclerosis (ALS) is a heterogeneous group of neurological conditions
which have in common the progressive degeneration of upper and lower motor neurons …
which have in common the progressive degeneration of upper and lower motor neurons …
Amyotrophic lateral sclerosis: molecular mechanisms, biomarkers, and therapeutic strategies
X Yang, Y Ji, W Wang, L Zhang, Z Chen, M Yu, Y Shen… - Antioxidants, 2021 - mdpi.com
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease with the progressive
loss of motor neurons, leading to a fatal paralysis. According to whether there is a family …
loss of motor neurons, leading to a fatal paralysis. According to whether there is a family …
Integrating human brain proteomes with genome-wide association data implicates new proteins in Alzheimer's disease pathogenesis
Genome-wide association studies (GWAS) have identified many risk loci for Alzheimer's
disease (AD),, but how these loci confer AD risk is unclear. Here, we aimed to identify loci …
disease (AD),, but how these loci confer AD risk is unclear. Here, we aimed to identify loci …
Expansion sequencing: Spatially precise in situ transcriptomics in intact biological systems
INTRODUCTION Cells and tissues are made up of diverse molecular building blocks,
organized with nanoscale precision over extended length scales. Newly developed …
organized with nanoscale precision over extended length scales. Newly developed …
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 …
Mitochondrial bioenergetic deficits in C9orf72 amyotrophic lateral sclerosis motor neurons cause dysfunctional axonal homeostasis
Axonal dysfunction is a common phenotype in neurodegenerative disorders, including in
amyotrophic lateral sclerosis (ALS), where the key pathological cell-type, the motor neuron …
amyotrophic lateral sclerosis (ALS), where the key pathological cell-type, the motor neuron …
Meta-analysis of genome-wide DNA methylation identifies shared associations across neurodegenerative disorders
Background People with neurodegenerative disorders show diverse clinical syndromes,
genetic heterogeneity, and distinct brain pathological changes, but studies report overlap …
genetic heterogeneity, and distinct brain pathological changes, but studies report overlap …
Microtubule-based transport is essential to distribute RNA and nascent protein in skeletal muscle
While the importance of RNA localization in highly differentiated cells is well appreciated,
basic principles of RNA localization in skeletal muscle remain poorly characterized. Here …
basic principles of RNA localization in skeletal muscle remain poorly characterized. Here …
Genetic analysis of amyotrophic lateral sclerosis identifies contributing pathways and cell types
Despite the considerable progress in unraveling the genetic causes of amyotrophic lateral
sclerosis (ALS), we do not fully understand the molecular mechanisms underlying the …
sclerosis (ALS), we do not fully understand the molecular mechanisms underlying the …
Identifying drug targets for neurological and psychiatric disease via genetics and the brain transcriptome
Discovering drugs that efficiently treat brain diseases has been challenging. Genetic
variants that modulate the expression of potential drug targets can be utilized to assess the …
variants that modulate the expression of potential drug targets can be utilized to assess the …