Alice Pebay

Lysosomal alterations and decreased electrophysiological activity in CLN3 disease patient-derived cortical neurons

Sueanne Chear, Sharn Perry, Richard Wilson, Aidan Bindoff, Jana Talbot, Tyson L Ware, Alexandra Grubman, James C Vickers, Alice Pebay, Jonathan B Ruddle, Anna E King, Alex W Hewitt, Anthony L Cook

Journal article  |  2022  |  DISEASE MODELS & MECHANISMS

CLN3 disease is a lysosomal storage disorder associated with fatal neurodegeneration that is caused by mutations in CLN3, with mos..

Transcriptomic and proteomic retinal pigment epithelium signatures of age-related macular degeneration

Anne Senabouth, Maciej Daniszewski, Grace E Lidgerwood, Helena H Liang, Damian Hernandez, Mehdi Mirzaei, Stacey N Keenan, Ran Zhang, Xikun Han, Drew Neavin, Louise Rooney, Maria Isabel G Lopez Sanchez, Lerna Gulluyan, Joao A Paulo, Linda Clarke, Lisa S Kearns, Vikkitharan Gnanasambandapillai, Chia-Ling Chan, Uyen Nguyen, Angela M Steinmann, et al.

Journal article  |  2022  |  NATURE COMMUNICATIONS

There are currently no treatments for geographic atrophy, the advanced form of age-related macular degeneration. Hence, innovative..

Human pluripotent stem cells for the modelling of retinal pigment epithelium homeostasis and disease: A review

Jenna C Hall, Daniel Paull, Alice Pebay, Grace E Lidgerwood

Journal article  |  2022  |  CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY

Human pluripotent stem cells (hPSCs), which include induced pluripotent stem cells and embryonic stem cells, are powerful tools fo..

Microglial amyloid beta clearance is driven by PIEZO1 channels.

Henna Jäntti, Valeriia Sitnikova, Yevheniia Ishchenko, Anastasia Shakirzyanova, Luca Giudice, Irene F Ugidos, Mireia Gómez-Budia, Nea Korvenlaita, Sohvi Ohtonen, Irina Belaya, Feroze Fazaludeen, Nikita Mikhailov, Maria Gotkiewicz, Kirsi Ketola, Šárka Lehtonen, Jari Koistinaho, Katja M Kanninen, Damian Hernández, Alice Pébay, Rosalba Giugno, et al.

Journal article  |  2022  |  J Neuroinflammation

BACKGROUND: Microglia are the endogenous immune cells of the brain and act as sensors of pathology to maintain brain homeostasis a..

AAV2-mediated gene therapy for Bietti crystalline dystrophy provides functional CYP4V2 in multiple relevant cell models

Jiang-Hui Wang, Grace E Lidgerwood, Maciej Daniszewski, Monica L Hu, Georgina E Roberts, Raymond CB Wong, Sandy SC Hung, Michelle E McClements, Alex W Hewitt, Alice Pebay, Doron G Hickey, Thomas L Edwards

Journal article  |  2022  |  SCIENTIFIC REPORTS

Bietti crystalline dystrophy (BCD) is an inherited retinal disease (IRD) caused by mutations in the CYP4V2 gene. It is a relativel..

Retinal ganglion cell-specific genetic regulation in primary open-angle glaucoma.

Maciej Daniszewski, Anne Senabouth, Helena H Liang, Xikun Han, Grace E Lidgerwood, Damián Hernández, Priyadharshini Sivakumaran, Jordan E Clarke, Shiang Y Lim, Jarmon G Lees, Louise Rooney, Lerna Gulluyan, Emmanuelle Souzeau, Stuart L Graham, Chia-Ling Chan, Uyen Nguyen, Nona Farbehi, Vikkitharan Gnanasambandapillai, Rachael A McCloy, Linda Clarke, et al.

Journal article  |  2022  |  Cell Genom

To assess the transcriptomic profile of disease-specific cell populations, fibroblasts from patients with primary open-angle glauc..

ENGINEERING THE COMPLEX MICRO-ENVIRONMENT OF THE BLOOD-RETINAL BARRIER IN VITRO

Ashley R Murphy, Grace Lidgerwood, Alice Pebay, Yen B Truong, Carmel M O'Brien, Veronica Glattauer

Conference Proceedings  |  2022  |  TISSUE ENGINEERING PART A

Genetics of reticular pseudodrusen in age-related macular degeneration

Samaneh Farashi, Zhichao Wu, Carla J Abbott, Alice Pebay, Erica L Fletcher, Robyn H Guymer, Melanie Bahlo, Brendan RE Ansell

Journal article  |  2022  |  TRENDS IN GENETICS

Reticular pseudodrusen (RPD) are subretinal deposits that, when observed with age-related macular degeneration (AMD), form a disti..

Cell type-specific manifestations of cortical thickness heterogeneity in schizophrenia

Maria A Di Biase, Michael P Geaghan, William R Reay, Jakob Seidlitz, Cynthia Shannon Weickert, Alice Pebay, Melissa J Green, Yann Quide, Joshua R Atkins, Michael J Coleman, Sylvain Bouix, Evdokiya E Knyazhanskaya, Amanda E Lyall, Ofer Pasternak, Marek Kubicki, Yogesh Rathi, Andrew Visco, Megan Gaunnac, Jinglei Lv, Raquelle Mesholam-Gately, et al.

Journal article  |  2022  |  MOLECULAR PSYCHIATRY

Brain morphology differs markedly between individuals with schizophrenia, but the cellular and genetic basis of this heterogeneity..

Image-Based Quantitation of Kainic Acid-Induced Excitotoxicity as a Model of Neurodegeneration in Human iPSC-Derived Neurons.

Jana Talbot, Sueanne Chear, Andrew Phipps, Alice Pébay, Alex W Hewitt, James C Vickers, Anna E King, Anthony L Cook

Book Chapter  |  2022  |  Methods in Molecular Biology

Excitotoxicity is a feature of many neurodegenerative diseases and acquired forms of neural injury that is characterized by disrup..