Disrupted phase behavior of FUS underlies poly-PR-induced DNA damage in amyotrophic lateral sclerosis

Y Wang, L Liu, H Chen, Y Yang, C Mu… - Human Molecular …, 2024 - academic.oup.com
Abstract GGGGCC (G4C2) hexanucleotide repeat expansion (HRE) in the first intron of the
chromosome 9 open reading frame 72 (C9ORF72) gene is the most common genetic cause …

Insights into developmental mechanisms and cancers in the mammalian intestine derived from serial analysis of gene expression and study of the hepatoma-derived …

M Lepourcelet, L Tou, L Cai, J Sawada, AJF Lazar… - 2005 - journals.biologists.com
The vertebrate intestine is a model for investigating inductive cellular interactions and the
roles of epithelial stem cells in tissue regeneration, and for understanding parallels between …

Genetic architecture of motor neuron diseases

R Chaudhary, V Agarwal, M Rehman… - Journal of the …, 2022 - Elsevier
Motor neuron diseases (MNDs) are rare and frequently fatal neurological disorders in which
motor neurons within the brainstem and spinal cord regions slowly die. MNDs are primarily …

Accumulation of insoluble forms of FUS protein correlates with toxicity in Drosophila

L Miguel, T Avequin, M Delarue, S Feuillette… - Neurobiology of …, 2012 - Elsevier
Recently, the fused in sarcoma/translated in liposarcoma (FUS) protein has been identified
as a major constituent of nuclear and/or cytoplasmic ubiquitin-positive inclusions in patients …

[HTML][HTML] RNA is a double-edged sword in ALS pathogenesis

BL Zaepfel, JD Rothstein - Frontiers in cellular neuroscience, 2021 - frontiersin.org
Amyotrophic lateral sclerosis (ALS) is a progressive and fatal neurodegenerative disease
that affects upper and lower motor neurons. Familial ALS accounts for a small subset of …

[HTML][HTML] Folding of the RNA recognition motif (RRM) domains of the amyotrophic lateral sclerosis (ALS)-linked protein TDP-43 reveals an intermediate state

BC Mackness, MT Tran, SP McClain… - Journal of Biological …, 2014 - ASBMB
Pathological alteration of TDP-43 (TAR DNA-binding protein-43), a protein involved in
various RNA-mediated processes, is a hallmark feature of the neurodegenerative diseases …

NKAP is a novel RS-related protein that interacts with RNA and RNA binding proteins

BD Burgute, VS Peche, AL Steckelberg… - Nucleic acids …, 2014 - academic.oup.com
NKAP is a highly conserved protein with roles in transcriptional repression, T-cell
development, maturation and acquisition of functional competency and maintenance and …

Amyotrophic Lateral Sclerosis Modifiers in Drosophila Reveal the Phospholipase D Pathway as a Potential Therapeutic Target

MW Kankel, A Sen, L Lu, M Theodorou, DN Dimlich… - Genetics, 2020 - academic.oup.com
Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disorder lacking
effective treatments. ALS pathology is linked to mutations in several different genes …

[HTML][HTML] Protein disulphide isomerase (PDI) is protective against amyotrophic lateral sclerosis (ALS)-related mutant Fused in Sarcoma (FUS) in in vitro models

S Parakh, ER Perri, M Vidal, J Sultana, S Shadfar… - Scientific Reports, 2021 - nature.com
Abstract Mutations in Fused in Sarcoma (FUS) are present in familial and sporadic cases of
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). FUS is localised in …

FUS‐mediated regulation of alternative RNA processing in neurons: insights from global transcriptome analysis

A Masuda, J Takeda, K Ohno - Wiley Interdisciplinary Reviews …, 2016 - Wiley Online Library
Fused in sarcoma (FUS) is an RNA‐binding protein that is causally associated with
oncogenesis and neurodegeneration. Recently, the role of FUS in neurodegeneration has …