Multisystem Proteinopathy Due to VCP Mutations: A Review of Clinical Heterogeneity and Genetic Diagnosis

G Pfeffer, G Lee, CS Pontifex, RD Fanganiello, A Peck… - Genes, 2022 - mdpi.com
In this work, we review clinical features and genetic diagnosis of diseases caused by
mutations in the gene encoding valosin-containing protein (VCP/p97), the functionally …

Internal ribosome entry site (IRES)-mediated translation and its potential for novel mRNA-based therapy development

R Marques, R Lacerda, L Romão - Biomedicines, 2022 - mdpi.com
Many conditions can benefit from RNA-based therapies, namely, those targeting internal
ribosome entry sites (IRESs) and their regulatory proteins, the IRES trans-acting factors …

Whole-genome CRISPR screening identifies genetic manipulations to reduce immune rejection of stem cell-derived islets

E Sintov, I Nikolskiy, V Barrera, JHR Kenty, AS Atkin… - Stem cell reports, 2022 - cell.com
Human embryonic stem cells (hESCs) provide opportunities for cell replacement therapy of
insulin-dependent diabetes. Therapeutic quantities of human stem cell-derived islets (SC …

hnRNP A1 dysfunction alters RNA splicing and drives neurodegeneration in multiple sclerosis (MS)

HE Salapa, PA Thibault, CD Libner, Y Ding… - Nature …, 2024 - nature.com
Neurodegeneration is the primary driver of disease progression in multiple sclerosis (MS)
resulting in permanent disability, creating an urgent need to discover its underlying …

A comprehensive understanding of hnRNP A1 role in cancer: new perspectives on binding with noncoding RNA

L Siculella, L Giannotti, B Di Chiara Stanca… - Cancer gene …, 2023 - nature.com
The heterogeneous nuclear ribonucleoprotein A1 (hnRNP A1) is the most abundant and
ubiquitously expressed member of the heterogeneous nuclear ribonucleoproteins family …

Nuclear RNA binding regulates TDP-43 nuclear localization and passive nuclear export

L Duan, BL Zaepfel, V Aksenova, M Dasso… - Cell reports, 2022 - cell.com
Nuclear clearance of the RNA-binding protein TDP-43 is a hallmark of neurodegeneration
and an important therapeutic target. Our current understanding of TDP-43 …

Update on the development of MNK inhibitors as therapeutic agents

W Xu, S Kannan, CS Verma… - Journal of medicinal …, 2021 - ACS Publications
Mitogen-activated protein kinase-interacting kinases 1 and 2 (MNK1/2) represent a central
class of enzymes that are activated by extracellular signal-regulated kinase (ERK) or p38 …

Mitogen-activated protein kinase pathway in amyotrophic lateral sclerosis

TG Sahana, K Zhang - Biomedicines, 2021 - mdpi.com
Amyotrophic lateral sclerosis is a fatal motor neuron degenerative disease. Multiple genetic
and non-genetic risk factors are associated with disease pathogenesis, and several cellular …

Decoding Protein Dynamics in Cells Using Chemical Cross‐Linking and Hierarchical Analysis

B Zhang, Z Gong, L Zhao, Y An, H Gao… - Angewandte Chemie …, 2023 - Wiley Online Library
Protein dynamics play a crucial role in their diverse functions. The intracellular environment
significantly influences protein dynamics, particularly for intrinsically disordered proteins …

RNA binding proteins in senescence: a potential common linker for age-related diseases?

A Varesi, LIM Campagnoli, A Barbieri, L Rossi… - Ageing Research …, 2023 - Elsevier
Aging represents the major risk factor for the onset and/or progression of various disorders
including neurodegenerative diseases, metabolic disorders, and bone-related defects. As …