Inherited ichthyosis: non‐syndromic forms

T Takeichi, M Akiyama - The Journal of dermatology, 2016 - Wiley Online Library
Inherited ichthyoses are a group of genetic disorders characterized by generalized dry skin,
scaling and hyperkeratosis, and often associated with erythroderma. These manifestations …

The proteasome as a druggable target with multiple therapeutic potentialities: Cutting and non-cutting edges

GR Tundo, D Sbardella, AM Santoro, A Coletta… - Pharmacology & …, 2020 - Elsevier
Abstract Ubiquitin Proteasome System (UPS) is an adaptable and finely tuned system that
sustains proteostasis network under a large variety of physiopathological conditions. Its …

Heterozygous truncating variants in POMP escape nonsense-mediated decay and cause a unique immune dysregulatory syndrome

MC Poli, F Ebstein, SK Nicholas… - The American Journal of …, 2018 - cell.com
The proteasome processes proteins to facilitate immune recognition and host defense.
When inherently defective, it can lead to aberrant immunity resulting in a dysregulated …

SARS-CoV-2 ORF9c is a membrane-associated protein that suppresses antiviral responses in cells

A Dominguez Andres, Y Feng, AR Campos, J Yin… - BioRxiv, 2020 - biorxiv.org
Disrupted antiviral immune responses are associated with severe COVID-19, the disease
caused by SAR-CoV-2. Here, we show that the 73-amino-acid protein encoded by ORF9c of …

[HTML][HTML] Diagnosis and management of inherited palmoplantar keratodermas

BR Thomas, EA O'TOOLE - Acta Dermato-Venereologica, 2020 - ncbi.nlm.nih.gov
Inherited monogenic palmoplantar keratodermas are a heterogeneous group of conditions
characterised by persistent epidermal thickening of the palmoplantar skin. Palmoplantar …

Proteasome disorders and inborn errors of immunity

MC Poli - Immunological Reviews, 2024 - Wiley Online Library
Inborn errors of immunity (IEI) or primary immune deficiencies (PIDD) are caused by variants
in genes encoding for molecules that are relevant to the innate or adaptive immune …

Compartmentalized proteomic profiling outlines the crucial role of the classical secretory pathway during recombinant protein production in Chinese hamster ovary …

S Pérez-Rodriguez, T Wulff, BG Voldborg… - ACS …, 2021 - ACS Publications
Different cellular processes that contribute to protein production in Chinese hamster ovary
(CHO) cells have been previously investigated by proteomics. However, although the …

Transcriptome analysis of yellow catfish (Pelteobagrus fulvidraco) liver challenged with polyriboinosinic polyribocytidylic acid (poly I: C)

Y Liu, ZZ Xin, DZ Zhang, ZF Wang, XY Zhu… - Fish & Shellfish …, 2017 - Elsevier
Yellow catfish (Pelteobagrus fulvidraco) is one of the most important economic freshwater
species in China. However, infection by bacterial pathogenic diseases has caused high …

The proteasome system in health and disease

O Coux, BA Zieba, S Meiners - … and Disease: From Basic Mechanisms to …, 2020 - Springer
The proteasome is involved in the regulation of all cellular pathways and consequently plays
a central role in the control of cellular homeostasis. Together with its regulators, it is at the …

KLICK Syndrome Linked to a POMP Mutation Has Features Suggestive of an Autoinflammatory Keratinization Disease

T Takeichi, M Akiyama - Frontiers in Immunology, 2020 - frontiersin.org
Keratosis linearis with ichthyosis congenita and sclerosing keratoderma (KLICK) syndrome
is a rare autosomal recessive skin disorder characterized by palmoplantar keratoderma …