Multimorbidity due to novel pathogenic variants in theWFS1/RP1/NOD2genes: autosomal dominant congenital lamellar cataract, retinitis pigmentosa and Crohn’s disease in a British family (2023)
Journal Article
Berry, V., Ionides, A., Georgiou, M., Quinlan, R. A., & Michaelides, M. (2023). Multimorbidity due to novel pathogenic variants in theWFS1/RP1/NOD2genes: autosomal dominant congenital lamellar cataract, retinitis pigmentosa and Crohn’s disease in a British family. BMJ Open Ophthalmology, 8(1), Article e001252. https://doi.org/10.1136/bmjophth-2023-001252

Background A five generation family has been analysed by whole exome sequencing (WES) for genetic associations with the multimorbidities of congenital cataract (CC), retinitis pigmentosa (RP) and Crohn’s disease (CD). Methods WES was performed for un... Read More about Multimorbidity due to novel pathogenic variants in theWFS1/RP1/NOD2genes: autosomal dominant congenital lamellar cataract, retinitis pigmentosa and Crohn’s disease in a British family.

Independent Membrane Binding Properties of the Caspase Generated Fragments of the Beaded Filament Structural Protein 1 (BFSP1) Involves an Amphipathic Helix (2023)
Journal Article
Jarrin, M., Kalligeraki, A. A., Uwineza, A., Cawood, C. S., Brown, A. P., Ward, E. N., …Quinlan, R. A. (2023). Independent Membrane Binding Properties of the Caspase Generated Fragments of the Beaded Filament Structural Protein 1 (BFSP1) Involves an Amphipathic Helix. Cells, https://doi.org/10.3390/cells12121580

Background: BFSP1 (beaded filament structural protein 1) is a plasma membrane, Aqua- 21 porin 0 (AQP0/MIP)-associated intermediate filament protein expressed in the eye lens. BFSP1 is 22 myristoylated, a post-translation modification that requires ca... Read More about Independent Membrane Binding Properties of the Caspase Generated Fragments of the Beaded Filament Structural Protein 1 (BFSP1) Involves an Amphipathic Helix.

Identification and quantification of ionising radiation-induced oxysterol formation in membranes of lens fibre cells (2022)
Journal Article
Uwineza, A., Cummins, I., Jarrin, M., Kalligeraki, A. K., Barnard, S., Mol, M., …Quinlan, R. A. (2023). Identification and quantification of ionising radiation-induced oxysterol formation in membranes of lens fibre cells. Advances in Redox Research, 7, Article 100057. https://doi.org/10.1016/j.arres.2022.100057

Ionising radiation (IR) is a cause of lipid peroxidation, and epidemiological data have revealed a correlation between exposure to IR and the development of eye lens cataracts. Cataracts remain the leading cause of blindness around the world. The pla... Read More about Identification and quantification of ionising radiation-induced oxysterol formation in membranes of lens fibre cells.

Insights into the biochemical and biophysical mechanisms mediating the longevity of the transparent optics of the eye lens (2022)
Journal Article
Quinlan, R. A., & Clark, J. I. (2022). Insights into the biochemical and biophysical mechanisms mediating the longevity of the transparent optics of the eye lens. Journal of Biological Chemistry, 298(11), Article 102537. https://doi.org/10.1016/j.jbc.2022.102537

In the human eye, a transparent cornea and lens combine to form the “refracton” to focus images on the retina. This requires the refracton to have a high refractive index “n,” mediated largely by extracellular collagen fibrils in the corneal stroma a... Read More about Insights into the biochemical and biophysical mechanisms mediating the longevity of the transparent optics of the eye lens.

Allophycocyanin A is a carbon dioxide receptor in the cyanobacterial phycobilisome (2022)
Journal Article
Guillen-Garcia, A., Gibson, S., Jordan, C., Ramaswamy, V., Linthwaite, V., Bromley, E., …Cann, M. (2022). Allophycocyanin A is a carbon dioxide receptor in the cyanobacterial phycobilisome. Nature Communications, 13, Article 5289. https://doi.org/10.1038/s41467-022-32925-6

Light harvesting is fundamental for production of ATP and reducing equivalents for CO2 fixation during photosynthesis. However, electronic energy transfer (EET) through a photosystem can harm the photosynthetic apparatus when not balanced with CO2. H... Read More about Allophycocyanin A is a carbon dioxide receptor in the cyanobacterial phycobilisome.

A recurrent variant in LIM2 causes an isolated congenital sutural/lamellar cataract in a Japanese family (2022)
Journal Article
Berry, V., Fujinami, K., Mochizuki, K., Iwata, T., Pontikos, N., Quinlan, R. A., & Michaelides, M. (2022). A recurrent variant in LIM2 causes an isolated congenital sutural/lamellar cataract in a Japanese family. Ophthalmic Genetics, 43(5), 622-626. https://doi.org/10.1080/13816810.2022.2090010

Background Genetically determined cataract is both clinically and molecularly highly heterogeneous. Here, we have identified a heterozygous variant in the lens integral membrane protein LIM2, the second most abundant protein in the lens, responsible... Read More about A recurrent variant in LIM2 causes an isolated congenital sutural/lamellar cataract in a Japanese family.

Cluster analyses of the TCGA and a TMA dataset using the coexpression of HSP27 and CRYAB improves alignment with clinical-pathological parameters of breast cancer and suggests different epichaperome influences for each sHSP (2022)
Journal Article
Quinlan, P. R., Figeuredo, G., Mongan, N., Jordan, L. B., Bray, S. E., Sreseli, R., …Quinlan, R. A. (2022). Cluster analyses of the TCGA and a TMA dataset using the coexpression of HSP27 and CRYAB improves alignment with clinical-pathological parameters of breast cancer and suggests different epichaperome influences for each sHSP. Cell Stress and Chaperones, 27(2), 177-188. https://doi.org/10.1007/s12192-022-01258-0

Our cluster analysis of the Cancer Genome Atlas for co-expression of HSP27 and CRYAB in breast cancer patients identified three patient groups based on their expression level combination (high HSP27+low CRYAB; low HSP27+high CRYAB; similar HSP27+CRYA... Read More about Cluster analyses of the TCGA and a TMA dataset using the coexpression of HSP27 and CRYAB improves alignment with clinical-pathological parameters of breast cancer and suggests different epichaperome influences for each sHSP.

The importance of the epithelial fibre cell interface to lens regeneration in an in vivo rat model and in a human bag-in-the-lens (BiL) sample (2021)
Journal Article
Wu, W., Lois, N., Prescott, A. R., Brown, A. P., Van Gerwen, V., Tassignon, M., …Quinlan, R. A. (2021). The importance of the epithelial fibre cell interface to lens regeneration in an in vivo rat model and in a human bag-in-the-lens (BiL) sample. Experimental Eye Research, 213, Article 108808. https://doi.org/10.1016/j.exer.2021.108808

Human lens regeneration and the Bag-in-the-Lens (BIL) surgical treatment for cataract both depend upon lens capsule closure for their success. Our studies suggest that the first three days after surgery are critical to their long-term outcomes. Using... Read More about The importance of the epithelial fibre cell interface to lens regeneration in an in vivo rat model and in a human bag-in-the-lens (BiL) sample.

Pathogenic variants in the CYP21A2 gene cause isolated autosomal dominant congenital posterior polar cataracts (2021)
Journal Article
Berry, V., Pontikos, N., Ionides, A., Kalitzeos, A., Quinlan, R. A., & Michaelides, M. (2022). Pathogenic variants in the CYP21A2 gene cause isolated autosomal dominant congenital posterior polar cataracts. Ophthalmic Genetics, 43(2), 218-223. https://doi.org/10.1080/13816810.2021.1998556

Background: Congenital cataracts are the most common cause of visual impairment worldwide. Inherited cataract is a clinically and genetically heterogeneous disease. Here we report disease-causing variants in a novel gene, CYP21A2, causing autosomal d... Read More about Pathogenic variants in the CYP21A2 gene cause isolated autosomal dominant congenital posterior polar cataracts.

Variants in PAX6, PITX3 and HSF4 causing autosomal dominant congenital cataracts (2021)
Journal Article
Berry, V., Ionides, A., Pontikos, N., Moore, A. T., Quinlan, R. A., & Michaelides, M. (2022). Variants in PAX6, PITX3 and HSF4 causing autosomal dominant congenital cataracts. Eye, 36(8), 1694-1701. https://doi.org/10.1038/s41433-021-01711-x

Background: Lens development is orchestrated by transcription factors. Disease-causing variants in transcription factors and their developmental target genes are associated with congenital cataracts and other eye anomalies. Methods: Using whole exome... Read More about Variants in PAX6, PITX3 and HSF4 causing autosomal dominant congenital cataracts.

Lens Epithelial Cell Proliferation in Response to Ionizing Radiation (2021)
Journal Article
Barnard, S., Uwineza, A., Kalligeraki, A., McCarron, R., Kruse, F., Ainsbury, E., & Quinlan, R. (2021). Lens Epithelial Cell Proliferation in Response to Ionizing Radiation. Radiation research, 197(1), 92-99. https://doi.org/10.1667/rade-20-00294.1

Lens epithelial cell proliferation and differentiation are naturally well regulated and controlled, a characteristic essential for lens structure, symmetry and function. The effect of ionizing radiation on lens epithelial cell proliferation has been... Read More about Lens Epithelial Cell Proliferation in Response to Ionizing Radiation.

On the Nature of Murine Radiation-Induced Subcapsular Cataracts: Optical Coherence Tomography-Based Fine Classification, In Vivo Dynamics and Impact on Visual Acuity (2021)
Journal Article
Pawliczek, D., Fuchs, H., Gailus-Durner, V., de Angelis, M. H., Quinlan, R., Graw, J., & Dalke, C. (2022). On the Nature of Murine Radiation-Induced Subcapsular Cataracts: Optical Coherence Tomography-Based Fine Classification, In Vivo Dynamics and Impact on Visual Acuity. Radiation research, 197(1), 7-21. https://doi.org/10.1667/rade-20-00163.1

Ionizing radiation is widely known to induce various kinds of lens cataracts, of which posterior subcapsular cataracts (PSCs) have the highest prevalence. Despite some studies regarding the epidemiology and biology of radiation-induced PSCs, the mech... Read More about On the Nature of Murine Radiation-Induced Subcapsular Cataracts: Optical Coherence Tomography-Based Fine Classification, In Vivo Dynamics and Impact on Visual Acuity.

Monitoring apoptosis in intact cells by high‐resolution magic angle spinning 1 H NMR spectroscopy (2021)
Journal Article
Wylot, M., Whittaker, D. T., Wren, S. A., Bothwell, J. H., Hughes, L., & Griffin, J. L. (2021). Monitoring apoptosis in intact cells by high‐resolution magic angle spinning 1 H NMR spectroscopy. NMR in Biomedicine, 34(3), Article e4456. https://doi.org/10.1002/nbm.4456

Apoptosis maintains an equilibrium between cell proliferation and cell death. Many diseases, including cancer, develop because of defects in apoptosis. A known metabolic marker of apoptosis is a notable increase in 1H NMR‐observable resonances associ... Read More about Monitoring apoptosis in intact cells by high‐resolution magic angle spinning 1 H NMR spectroscopy.

Joining European Scientific Forces to Face Pandemics (2020)
Journal Article
Vasconcelos, M. H., Alcaro, S., Arechavala-Gomeza, V., Baumbach, J., Borges, F., Brevini, T. A., …Riganti, C. (2021). Joining European Scientific Forces to Face Pandemics. Trends in Microbiology, 29(2), 92-97. https://doi.org/10.1016/j.tim.2020.10.008

Despite the international guidelines on the containment of the coronavirus disease 2019 (COVID-19) pandemic, the European scientific community was not sufficiently prepared to coordinate scientific efforts. To improve preparedness for future pandemic... Read More about Joining European Scientific Forces to Face Pandemics.

The genetic landscape of crystallins in congenital cataract (2020)
Journal Article
Berry, V., Ionides, A., Pontikos, N., Georgiou, M., Yu, J., Ocaka, L. A., …Michaelides, M. (2020). The genetic landscape of crystallins in congenital cataract. Orphanet Journal of Rare Diseases, 15, Article 333. https://doi.org/10.1186/s13023-020-01613-3

Background: The crystalline lens is mainly composed of a large family of soluble proteins called the crystallins, which are responsible for its development, growth, transparency and refractive index. Disease-causing sequence variants in the crystalli... Read More about The genetic landscape of crystallins in congenital cataract.

Three-dimensional data capture and analysis of intact eye lenses evidences emmetropia-associated changes and strain-dependent differences in epithelial cell organization (2020)
Journal Article
Kalligeraki, A. A., Isted, A., Pal, R., Saunter, C., Girkin, J., Jarrin, M., …Quinlan, R. A. (2020). Three-dimensional data capture and analysis of intact eye lenses evidences emmetropia-associated changes and strain-dependent differences in epithelial cell organization. Scientific Reports, 10, Article 16898. https://doi.org/10.1038/s41598-020-73625-9

Organ and tissue development are highly coordinated processes; lens growth and functional integration into the eye (emmetropia) is a robust example. An epithelial monolayer covers the anterior hemisphere of the lens, and its organization is the key t... Read More about Three-dimensional data capture and analysis of intact eye lenses evidences emmetropia-associated changes and strain-dependent differences in epithelial cell organization.

Unrestrained ESCRT-III drives micronuclear catastrophe and chromosome fragmentation (2020)
Journal Article
Vietri, M., Schultz, S. W., Bellanger, A., Jones, C. M., Petersen, L. I., Raiborg, C., …Campsteijn, C. (2020). Unrestrained ESCRT-III drives micronuclear catastrophe and chromosome fragmentation. Nature Cell Biology, 22(7), 856-867. https://doi.org/10.1038/s41556-020-0537-5

The ESCRT-III membrane fission machinery maintains the integrity of the nuclear envelope. Although primary nuclei resealing takes minutes, micronuclear envelope ruptures seem to be irreversible. Instead, micronuclear ruptures result in catastrophic m... Read More about Unrestrained ESCRT-III drives micronuclear catastrophe and chromosome fragmentation.

Whole Exome Sequencing Reveals Novel and Recurrent Disease-Causing Variants in Lens Specific Gap Junctional Protein Encoding Genes Causing Congenital Cataract (2020)
Journal Article
Berry, V., Ionides, A., Pontikos, N., Moghul, I., Moore, A. T., Quinlan, R. A., & Michaelides, M. (2020). Whole Exome Sequencing Reveals Novel and Recurrent Disease-Causing Variants in Lens Specific Gap Junctional Protein Encoding Genes Causing Congenital Cataract. Genes, 11(5), Article 512. https://doi.org/10.3390/genes11050512

Pediatric cataract is clinically and genetically heterogeneous, and is the most common cause of childhood blindness worldwide. In this study, we aimed to identify disease-causing variants in three large British families and one isolated case with aut... Read More about Whole Exome Sequencing Reveals Novel and Recurrent Disease-Causing Variants in Lens Specific Gap Junctional Protein Encoding Genes Causing Congenital Cataract.

A novel missense mutation in LIM2 causing isolated autosomal dominant congenital cataract (2020)
Journal Article
Berry, V., Pontikos, N., Dudakova, L., Moore, A. T., Quinlan, R., Liskova, P., & Michaelides, M. (2020). A novel missense mutation in LIM2 causing isolated autosomal dominant congenital cataract. Ophthalmic Genetics, 41(2), 131-134. https://doi.org/10.1080/13816810.2020.1737950

Background: Congenital cataract is the most common cause of blindness in the world. Congenital cataracts are clinically and genetically heterogeneous and are mostly inherited in an autosomal dominant fashion. We identified the genetic cause of isolat... Read More about A novel missense mutation in LIM2 causing isolated autosomal dominant congenital cataract.

Site-specific phosphorylation and caspase cleavage of GFAP are new markers of Alexander Disease severity (2019)
Journal Article
Battaglia, R. A., Beltran, A. S., Delic, S., Dumitru, R., Robinson, J. A., Kabiraj, P., …Snider, N. T. (2019). Site-specific phosphorylation and caspase cleavage of GFAP are new markers of Alexander Disease severity. eLife, 8, Article e47789. https://doi.org/10.7554/elife.47789

Alexander Disease (AxD) is a fatal neurodegenerative disorder caused by mutations in glial fibrillary acidic protein (GFAP), which supports the structural integrity of astrocytes. Over 70 GFAP missense mutations cause AxD, but the mechanism linking d... Read More about Site-specific phosphorylation and caspase cleavage of GFAP are new markers of Alexander Disease severity.