[HTML][HTML] CLIP and complementary methods

M Hafner, M Katsantoni, T Köster, J Marks… - Nature Reviews …, 2021 - nature.com
RNA molecules start assembling into ribonucleoprotein (RNP) complexes during
transcription. Dynamic RNP assembly, largely directed by cis-acting elements on the RNA …

ALS genetics, mechanisms, and therapeutics: where are we now?

R Mejzini, LL Flynn, IL Pitout, S Fletcher… - Frontiers in …, 2019 - frontiersin.org
The scientific landscape surrounding amyotrophic lateral sclerosis (ALS) continues to shift
as the number of genes associated with the disease risk and pathogenesis, and the cellular …

TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A

AL Brown, OG Wilkins, MJ Keuss, SE Hill, M Zanovello… - Nature, 2022 - nature.com
Variants of UNC13A, a critical gene for synapse function, increase the risk of amyotrophic
lateral sclerosis and frontotemporal dementia,–, two related neurodegenerative diseases …

TDP-43 represses cryptic exon inclusion in the FTD–ALS gene UNC13A

XR Ma, M Prudencio, Y Koike, SC Vatsavayai, G Kim… - Nature, 2022 - nature.com
A hallmark pathological feature of the neurodegenerative diseases amyotrophic lateral
sclerosis (ALS) and frontotemporal dementia (FTD) is the depletion of RNA-binding protein …

Mechanism of STMN2 cryptic splice-polyadenylation and its correction for TDP-43 proteinopathies

MW Baughn, Z Melamed, J López-Erauskin… - Science, 2023 - science.org
Loss of nuclear TDP-43 is a hallmark of neurodegeneration in TDP-43 proteinopathies,
including amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). TDP-43 …

Alternative splicing regulatory networks: functions, mechanisms, and evolution

J Ule, BJ Blencowe - Molecular cell, 2019 - cell.com
High-throughput sequencing-based methods and their applications in the study of
transcriptomes have revolutionized our understanding of alternative splicing. Networks of …

ALS genetics: gains, losses, and implications for future therapies

G Kim, O Gautier, E Tassoni-Tsuchida, XR Ma… - Neuron, 2020 - cell.com
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder caused by the loss
of motor neurons from the brain and spinal cord. The ALS community has made remarkable …

The role of TDP-43 mislocalization in amyotrophic lateral sclerosis

TR Suk, MWC Rousseaux - Molecular neurodegeneration, 2020 - Springer
Since its discovery as a primary component in cytoplasmic aggregates in post-mortem tissue
of patients with Amyotrophic Lateral Sclerosis (ALS), TAR DNA Binding Protein 43 kDa (TDP …

TDP-43 proteinopathies: a new wave of neurodegenerative diseases

EMJ De Boer, VK Orie, T Williams, MR Baker… - Journal of Neurology …, 2021 - jnnp.bmj.com
Inclusions of pathogenic deposits containing TAR DNA-binding protein 43 (TDP-43) are
evident in the brain and spinal cord of patients that present across a spectrum of …

Molecular mechanisms of TDP-43 misfolding and pathology in amyotrophic lateral sclerosis

A Prasad, V Bharathi, V Sivalingam… - Frontiers in molecular …, 2019 - frontiersin.org
TAR DNA binding protein 43 (TDP-43) is a versatile RNA/DNA binding protein involved in
RNA-related metabolism. Hyper-phosphorylated and ubiquitinated TDP-43 deposits act as …