The era of cryptic exons: implications for ALS-FTD

PR Mehta, AL Brown, ME Ward, P Fratta - Molecular Neurodegeneration, 2023 - Springer
TDP-43 is an RNA-binding protein with a crucial nuclear role in splicing, and mislocalises
from the nucleus to the cytoplasm in a range of neurodegenerative disorders. TDP-43 …

Update on genetics of amyotrophic lateral sclerosis

D Brenner, A Freischmidt - Current Opinion in Neurology, 2022 - journals.lww.com
The genetic and molecular basis of ALS is increasingly examined on single-cell resolution.
In the past 2 years, the understanding of the downstream mechanisms of several ALS genes …

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 …

A fluid biomarker reveals loss of TDP-43 splicing repression in presymptomatic ALS–FTD

KE Irwin, P Jasin, KE Braunstein, IR Sinha, MA Garret… - Nature medicine, 2024 - nature.com
Although loss of TAR DNA-binding protein 43 kDa (TDP-43) splicing repression is well
documented in postmortem tissues of amyotrophic lateral sclerosis (ALS) and frontotemporal …

TDP-43-regulated cryptic RNAs accumulate in Alzheimer's disease brains

V Estades Ayuso, S Pickles, T Todd, M Yue… - Molecular …, 2023 - Springer
Abstract Background Inclusions of TAR DNA-binding protein 43 kDa (TDP-43) has been
designated limbic-predominant, age-related TDP-43 encephalopathy (LATE), with or without …

Cryptic splicing of stathmin-2 and UNC13A mRNAs is a pathological hallmark of TDP-43-associated Alzheimer's disease

AR Agra Almeida Quadros, Z Li, X Wang… - Acta …, 2024 - Springer
Nuclear clearance and cytoplasmic accumulations of the RNA-binding protein TDP-43 are
pathological hallmarks in almost all patients with amyotrophic lateral sclerosis (ALS) and up …

Stathmin-2 loss leads to neurofilament-dependent axonal collapse driving motor and sensory denervation

J Lopez-Erauskin, M Bravo-Hernandez, M Presa… - Nature …, 2024 - nature.com
The mRNA transcript of the human STMN2 gene, encoding for stathmin-2 protein (also
called SCG10), is profoundly impacted by TAR DNA-binding protein 43 (TDP-43) loss of …

TDP-43 dysregulation and neuromuscular junction disruption in amyotrophic lateral sclerosis

S Lépine, MJ Castellanos-Montiel… - Translational …, 2022 - Springer
Amyotrophic lateral sclerosis (ALS) is a disease characterized by upper and lower motor
neuron (MN) loss with a signature feature of cytoplasmic aggregates containing TDP-43 …

SYF2 suppression mitigates neurodegeneration in models of diverse forms of ALS

GR Linares, Y Li, WH Chang, J Rubin-Sigler… - Cell Stem Cell, 2023 - cell.com
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease caused by many
diverse genetic etiologies. Although therapeutics that specifically target causal mutations …

hnRNP R promotes O-GlcNAcylation of eIF4G and facilitates axonal protein synthesis

A Zare, S Salehi, J Bader, C Schneider… - Nature …, 2024 - nature.com
Motoneurons critically depend on precise spatial and temporal control of translation for axon
growth and the establishment and maintenance of neuromuscular connections. While …