The molecular and cellular basis of rhodopsin retinitis pigmentosa reveals potential strategies for therapy

D Athanasiou, M Aguila, J Bellingham, W Li… - Progress in retinal and …, 2018 - Elsevier
Inherited mutations in the rod visual pigment, rhodopsin, cause the degenerative blinding
condition, retinitis pigmentosa (RP). Over 150 different mutations in rhodopsin have been …

The delicate balance between secreted protein folding and endoplasmic reticulum-associated degradation in human physiology

CJ Guerriero, JL Brodsky - Physiological reviews, 2012 - journals.physiology.org
Protein folding is a complex, error-prone process that often results in an irreparable protein
by-product. These by-products can be recognized by cellular quality control machineries …

Chaperoning endoplasmic reticulum–associated degradation (ERAD) and protein conformational diseases

PG Needham, CJ Guerriero… - Cold Spring Harbor …, 2019 - cshperspectives.cshlp.org
Misfolded proteins compromise cellular homeostasis. This is especially problematic in the
endoplasmic reticulum (ER), which is a high-capacity protein-folding compartment and …

[HTML][HTML] The cell stress machinery and retinal degeneration

D Athanasiou, M Aguilà, D Bevilacqua, SS Novoselov… - FEBS letters, 2013 - Elsevier
Retinal degenerations are a group of clinically and genetically heterogeneous disorders
characterised by progressive loss of vision due to neurodegeneration. The retina is a highly …

The role of the ER stress-response protein PERK in rhodopsin retinitis pigmentosa

D Athanasiou, M Aguila, J Bellingham… - Human molecular …, 2017 - academic.oup.com
Mutations in rhodopsin, the light-sensitive protein of rod cells, are the most common cause of
dominant retinitis pigmentosa (RP), a type of inherited blindness caused by the dysfunction …

[HTML][HTML] Gene therapy in animal models of autosomal dominant retinitis pigmentosa

B Rossmiller, H Mao, AS Lewin - Molecular vision, 2012 - ncbi.nlm.nih.gov
Gene therapy for dominantly inherited genetic disease is more difficult than gene-based
therapy for recessive disorders, which can be treated with gene supplementation. Treatment …

Genome-wide RNAi screen identifies SEC61A and VCP as conserved regulators of Sindbis virus entry

D Panda, PP Rose, SL Hanna, B Gold, KC Hopkins… - Cell reports, 2013 - cell.com
Alphaviruses are a large class of insect-borne human pathogens and little is known about
the host-factor requirements for infection. To identify such factors, we performed a genome …

Induction of Autophagy Promotes Clearance of RHOP23H Aggregates and Protects From Retinal Degeneration

D Intartaglia, G Giamundo, F Naso, E Nusco… - Frontiers in Aging …, 2022 - frontiersin.org
Autophagy is a critical metabolic process that acts as a major self-digestion and recycling
pathway contributing to maintain cellular homeostasis. An emerging field of research …

Inactivation of VCP/ter94 Suppresses Retinal Pathology Caused by Misfolded Rhodopsin in Drosophila

A Griciuc, L Aron, MJ Roux, R Klein, A Giangrande… - PLoS …, 2010 - journals.plos.org
The most common Rhodopsin (Rh) mutation associated with autosomal dominant retinitis
pigmentosa (ADRP) in North America is the substitution of proline 23 by histidine (RhP23H) …

Calpain activation is the major cause of cell death in photoreceptors expressing a rhodopsin misfolding mutation

A Comitato, D Schiroli, M Montanari, V Marigo - Molecular Neurobiology, 2020 - Springer
The majority of mutations in rhodopsin (RHO) cause misfolding of the protein and has been
linked to degeneration of photoreceptor cells in the retina. A lot of attention has been set on …