Nuclear pore complexes in development and tissue homeostasis

V Guglielmi, S Sakuma, MA D'Angelo - Development, 2020 - journals.biologists.com
Nuclear pore complexes are multiprotein channels that span the nuclear envelope, which
connects the nucleus to the cytoplasm. In addition to their main role in the regulation of …

C9orf72 poly(GR) aggregation induces TDP-43 proteinopathy

CN Cook, Y Wu, HM Odeh, TF Gendron… - Science translational …, 2020 - science.org
TAR DNA-binding protein 43 (TDP-43) inclusions are a pathological hallmark of
frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS), including cases …

[HTML][HTML] G4C2 repeat RNA initiates a POM121-mediated reduction in specific nucleoporins in C9orf72 ALS/FTD

AN Coyne, BL Zaepfel, L Hayes, B Fitchman… - Neuron, 2020 - cell.com
Through mechanisms that remain poorly defined, defects in nucleocytoplasmic transport and
accumulations of specific nuclear-pore-complex-associated proteins have been reported in …

Arginine-rich dipeptide-repeat proteins as phase disruptors in C9-ALS/FTD

HM Odeh, J Shorter - Emerging topics in life sciences, 2020 - portlandpress.com
A hexanucleotide repeat expansion GGGGCC (G4C2) within chromosome 9 open reading
frame 72 (C9orf72) is the most common genetic cause of amyotrophic lateral sclerosis and …

[HTML][HTML] Nuclear import receptors directly bind to arginine-rich dipeptide repeat proteins and suppress their pathological interactions

S Hutten, S Usluer, B Bourgeois, F Simonetti, HM Odeh… - Cell reports, 2020 - cell.com
Nuclear import receptors, also called importins, mediate nuclear import of proteins and
chaperone aggregation-prone cargoes (eg, neurodegeneration-linked RNA-binding …

Arginine forks are a widespread motif to recognize phosphate backbones and guanine nucleobases in the RNA major groove

SS Chavali, CE Cavender, DH Mathews… - Journal of the …, 2020 - ACS Publications
RNA recognition by proteins is central to biology. Here we demonstrate the existence of a
recurrent structural motif, the “arginine fork”, that codifies arginine readout of cognate …

[HTML][HTML] Nuclear periphery takes center stage: the role of nuclear pore complexes in cell identity and aging

UH Cho, MW Hetzer - Neuron, 2020 - cell.com
In recent years, the nuclear pore complex (NPC) has emerged as a key player in genome
regulation and cellular homeostasis. New discoveries have revealed that the NPC has …

[HTML][HTML] Phase separation of toxic dipeptide repeat proteins related to C9orf72 ALS/FTD

H Jafarinia, E van der Giessen, PR Onck - Biophysical Journal, 2020 - cell.com
The expansion mutation in the C9orf72 gene is the most common known genetic cause for
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). This mutation can …

[HTML][HTML] C9orf72-associated arginine-rich dipeptide repeat proteins reduce the number of Golgi outposts and dendritic branches in Drosophila neurons

JH Park, CG Chung, J Seo, BH Lee, YS Lee… - Molecules and …, 2020 - Elsevier
Altered dendritic morphology is frequently observed in various neurological disorders
including amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), but the …

[HTML][HTML] The sense of targeting nonsense-mediated decay in C9-ALS/FTD

HM Odeh, J Shorter - Neuron, 2020 - cell.com
Defective nucleocytoplasmic transport contributes to C9-ALS/FTD, but an inventory of
proteins that become redistributed has remained elusive. In this issue of Neuron, Ortega et …