[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 …

Applications of multi‐omics analysis in human diseases

C Chen, J Wang, D Pan, X Wang, Y Xu, J Yan… - MedComm, 2023 - Wiley Online Library
Multi‐omics usually refers to the crossover application of multiple high‐throughput screening
technologies represented by genomics, transcriptomics, single‐cell transcriptomics …

[HTML][HTML] Integrated transcriptome landscape of ALS identifies genome instability linked to TDP-43 pathology

OJ Ziff, J Neeves, J Mitchell, G Tyzack… - Nature …, 2023 - nature.com
Abstract Amyotrophic Lateral Sclerosis (ALS) causes motor neuron degeneration, with 97%
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

FW Pun, BHM Liu, X Long, HW Leung… - Frontiers in Aging …, 2022 - frontiersin.org
Amyotrophic lateral sclerosis (ALS) is a severe neurodegenerative disease with ill-defined
pathogenesis, calling for urgent developments of new therapeutic regimens. Herein, we …

[PDF][PDF] Large-scale differentiation of iPSC-derived motor neurons from ALS and control subjects

MJ Workman, RG Lim, J Wu, A Frank, L Ornelas… - Neuron, 2023 - cell.com
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 …

Multiomics and machine-learning identify novel transcriptional and mutational signatures in amyotrophic lateral sclerosis

A Catanese, S Rajkumar, D Sommer, P Masrori… - Brain, 2023 - academic.oup.com
Amyotrophic lateral sclerosis is a fatal and incurable neurodegenerative disease that mainly
affects the neurons of the motor system. Despite the increasing understanding of its genetic …

[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 …

[PDF][PDF] 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 …

[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 …

[HTML][HTML] An alternative splicing modulator decreases mutant HTT and improves the molecular fingerprint in Huntington's disease patient neurons

F Krach, J Stemick, T Boerstler, A Weiss… - Nature …, 2022 - nature.com
Huntington's disease (HD) is a neurodegenerative disorder caused by poly-Q expansion in
the Huntingtin (HTT) protein. Here, we delineate elevated mutant HTT (mHTT) levels in …