The tubulin code and its role in controlling microtubule properties and functions

C Janke, MM Magiera - Nature Reviews Molecular Cell Biology, 2020 - nature.com
Microtubules are core components of the eukaryotic cytoskeleton with essential roles in cell
division, shaping, motility and intracellular transport. Despite their functional heterogeneity …

[HTML][HTML] Retinitis pigmentosa: novel therapeutic targets and drug development

KY Wu, M Kulbay, D Toameh, AQ Xu, A Kalevar… - Pharmaceutics, 2023 - mdpi.com
Retinitis pigmentosa (RP) is a heterogeneous group of hereditary diseases characterized by
progressive degeneration of retinal photoreceptors leading to progressive visual decline. It …

Tubulin polyglutamylation differentially regulates microtubule‐interacting proteins

M Genova, L Grycova, V Puttrich, MM Magiera… - The EMBO …, 2023 - embopress.org
Tubulin posttranslational modifications have been predicted to control cytoskeletal functions
by coordinating the molecular interactions between microtubules and their associating …

Tubulin posttranslational modifications and emerging links to human disease

MM Magiera, P Singh, S Gadadhar, C Janke - Cell, 2018 - cell.com
Tubulin posttranslational modifications are currently emerging as important regulators of the
microtubule cytoskeleton and thus have a strong potential to be implicated in a number of …

[HTML][HTML] Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations

E Zampaglione, B Kinde, EM Place… - Genetics in …, 2020 - Elsevier
Purpose Current sequencing strategies can genetically solve 55–60% of inherited retinal
degeneration (IRD) cases, despite recent progress in sequencing. This can partially be …

[HTML][HTML] Genes and genetics in eye diseases: a genomic medicine approach for investigating hereditary and inflammatory ocular disorders

M Singh, SC Tyagi - International journal of ophthalmology, 2018 - ncbi.nlm.nih.gov
Past 25y have witnessed an exponential increase in knowledge and understanding of
ocular diseases and their respective genetic underpinnings. As a result, scientists have …

CRISPR/Cas9—A Promising Therapeutic Tool to Cure Blindness: Current Scenario and Future Prospects

I Ahmad - International Journal of Molecular Sciences, 2022 - mdpi.com
CRISPR-based targeted genome editing is bringing revolutionary changes in the research
arena of biological sciences. CRISPR/Cas9 has been explored as an efficient therapeutic …

Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis

P Biswas, AL Villanueva, A Soto-Hermida… - PLoS …, 2021 - journals.plos.org
Patients with inherited retinal dystrophies (IRDs) were recruited from two understudied
populations: Mexico and Pakistan as well as a third well-studied population of European …

Microtubule‐associated proteins and enzymes modifying tubulin

N Peng, F Nakamura - Cytoskeleton, 2023 - Wiley Online Library
Microtubules (MTs) are essential for many cellular processes including establishment of cell
shape and polarity, chromosome segregation, vesicle transport, and nuclear positioning …

A new perspective on the genetics of keratoconus: why have we not been more successful?

H Valgaeren, C Koppen, G Van Camp - Ophthalmic Genetics, 2018 - Taylor & Francis
Twin studies and family studies suggest an important genetic basis for keratoconus (KC).
Involvement and association of several genes with the disease has been reported …