Applications of multi‐omics analysis in human diseases
Multi‐omics usually refers to the crossover application of multiple high‐throughput screening
technologies represented by genomics, transcriptomics, single‐cell transcriptomics …
technologies represented by genomics, transcriptomics, single‐cell transcriptomics …
[HTML][HTML] 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 …
[HTML][HTML] Large-scale differentiation of iPSC-derived motor neurons from ALS and control subjects
Using induced pluripotent stem cells (iPSCs) to understand the mechanisms of neurological
disease holds great promise; however, there is a lack of well-curated lines from a large array …
disease holds great promise; however, there is a lack of well-curated lines from a large array …
[HTML][HTML] Integrated transcriptome landscape of ALS identifies genome instability linked to TDP-43 pathology
Abstract Amyotrophic Lateral Sclerosis (ALS) causes motor neuron degeneration, with 97%
of cases exhibiting TDP-43 proteinopathy. Elucidating pathomechanisms has been …
of cases exhibiting TDP-43 proteinopathy. Elucidating pathomechanisms has been …
[HTML][HTML] Identification of therapeutic targets for amyotrophic lateral sclerosis using PandaOmics–an AI-enabled biological target discovery platform
Amyotrophic lateral sclerosis (ALS) is a severe neurodegenerative disease with ill-defined
pathogenesis, calling for urgent developments of new therapeutic regimens. Herein, we …
pathogenesis, calling for urgent developments of new therapeutic regimens. Herein, we …
[HTML][HTML] Single-molecule imaging reveals distinct elongation and frameshifting dynamics between frames of expanded RNA repeats in C9ORF72-ALS/FTD
MJ Latallo, S Wang, D Dong, B Nelson… - Nature …, 2023 - nature.com
C9ORF72 hexanucleotide repeat expansion is the most common genetic cause of both
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). One pathogenic …
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). One pathogenic …
[HTML][HTML] Neurodegeneration cell per cell
S Balusu, R Praschberger, E Lauwers, B De Strooper… - Neuron, 2023 - cell.com
The clinical definition of neurodegenerative diseases is based on symptoms that reflect
terminal damage of specific brain regions. This is misleading as it tells little about the initial …
terminal damage of specific brain regions. This is misleading as it tells little about the initial …
[HTML][HTML] PolyGR and polyPR knock-in mice reveal a conserved neuroprotective extracellular matrix signature in C9orf72 ALS/FTD neurons
C Milioto, M Carcolé, A Giblin, R Coneys, O Attrebi… - Nature …, 2024 - nature.com
Dipeptide repeat proteins are a major pathogenic feature of C9orf72 amyotrophic lateral
sclerosis (C9ALS)/frontotemporal dementia (FTD) pathology, but their physiological impact …
sclerosis (C9ALS)/frontotemporal dementia (FTD) pathology, but their physiological impact …
[HTML][HTML] Intravenous edaravone treatment in ALS and survival: An exploratory, retrospective, administrative claims analysis
BR Brooks, JD Berry, M Ciepielewska, Y Liu… - …, 2022 - thelancet.com
Background We aimed to evaluate overall survival in US patients with amyotrophic lateral
sclerosis (ALS) treated with intravenous (IV) edaravone compared with those not treated …
sclerosis (ALS) treated with intravenous (IV) edaravone compared with those not treated …
SUN1 facilitates CHMP7 nuclear influx and injury cascades in sporadic amyotrophic lateral sclerosis
We have recently identified the aberrant nuclear accumulation of the ESCRT-III protein
CHMP7 as an initiating event that leads to a significant injury to the nuclear pore complex …
CHMP7 as an initiating event that leads to a significant injury to the nuclear pore complex …