HUMAN INDUCED PLURIPOTENT STEM CELLS TO UNDERSTAND NEURODEGENERATION

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

2022-07-26

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

2022-07-11

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

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

2022-06-08

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

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

2022-03-14

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

2022-02-10

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

A sporadic Alzheimer's blood-brain barrier model for developing ultrasound-mediated delivery of Aducanumab and anti-Tau antibodies.

Joanna M Wasielewska, Juliana CS Chaves, Rebecca L Johnston, Laura A Milton, Damián Hernández, Liyu Chen, Jae Song, Wendy Lee, Gerhard Leinenga, Rebecca M Nisbet, Alice Pébay, Jürgen Götz, Anthony R White, Lotta E Oikari

2022-01-01

Rationale: The blood-brain barrier (BBB) is a major impediment to therapeutic intracranial drug delivery for the treatment of neur..

Cellular pathophysiology of Friedreich's ataxia cardiomyopathy

Jarmon G Lees, Marek Napierala, Alice Pebay, Mirella Dottori, Shiang Y Lim

2021-12-05

Friedreich's ataxia (FRDA) is a hereditary neuromuscular disorder. Cardiomyopathy is the leading cause of premature death in FRDA...

Transcriptomic Profiling of Human Pluripotent Stem Cell-derived Retinal Pigment Epithelium over Time

Grace E Lidgerwood, Anne Senabouth, Casey JA Smith-Anttila, Vikkitharan Gnanasambandapillai, Dominik C Kaczorowski, Daniela Amann-Zalcenstein, Erica L Fletcher, Shalin H Naik, Alex W Hewitt, Joseph E Powell, Alice Pebay

2021-11-13

Human pluripotent stem cell (hPSC)-derived progenies are immature versions of cells, presenting a potential limitation to the accu..

Automation of Organoid Cultures: Current Protocols and Applications

Alexandra Louey, Damian Hernandez, Alice Pebay, Maciej Daniszewski

2021-06-24

Organoids are three-dimensional, functional structures that mimic in vivo organs. They offer new opportunities for the modeling of..

Generation of a gene-corrected human isogenic iPSC line from an Alzheimer's disease iPSC line carrying the London mutation in APP (V717I)

Damian Hernandez, Stephanie Morgan Schlicht, Maciej Daniszewski, Celeste M Karch, Alison M Goate, Alice Pebay

2021-05-03

We report the genome-editing of an existing iPSC line carrying the London mutation in APP (V717I) into an iPSC line in which the p..

Culture Variabilities of Human iPSC-Derived Cerebral Organoids Are a Major Issue for the Modelling of Phenotypes Observed in Alzheimer's Disease

Damian Hernandez, Louise A Rooney, Maciej Daniszewski, Lerna Gulluyan, Helena H Liang, Anthony L Cook, Alex W Hewitt, Alice Pebay

2021-03-16

Apolipoprotein E (APOE) is the most important susceptibility gene for late onset of Alzheimer's disease (AD), with the presence of..

The Use of Human Pluripotent Stem Cells (hPSCs) and CRISPR-Mediated Gene Editing in Retinal Diseases

Grace E Lidgerwood, Alex W Hewitt, Alice Pébay, Damián Hernández

2021-01-01

Investigating the role of APOE: limitations of human pluripotent stem cell-derived cerebral organoids

Damián Hernández, Louise Rooney, Maciej Daniszewski, Lerna Gulluyan, Helena Liang, Anthony Cook, Alex Hewitt, Alice Pébay

2020-12-01

<h4>Summary</h4> Apolipoprotein E (APOE) is the most important susceptibility gene for late onset of Alzheimer’s disease, with the..

If Human Brain Organoids Are the Answer to Understanding Dementia, What Are the Questions?

Lezanne Ooi, Mirella Dottori, Anthony L Cook, Martin Engel, Vini Gautam, Alexandra Grubman, Damian Hernandez, Anna E King, Simon Maksour, Helena Targa Dias Anastacio, Rachelle Balez, Alice Pebay, Colin Pouton, Michael Valenzuela, Anthony White, Robert Williamson

2020-10-01

Because our beliefs regarding our individuality, autonomy, and personhood are intimately bound up with our brains, there is a publ..

Engineering domain-inlaid SaCas9 adenine base editors with reduced RNA off-targets and increased on-target DNA editing

Minh Thuan Nguyen Tran, Mohd Khairul Nizam Mohd Khalid, Qi Wang, Jacqueline KR Walker, Grace E Lidgerwood, Kimberley L Dilworth, Leszek Lisowski, Alice Pebay, Alex W Hewitt

2020-09-25

Precision genome engineering has dramatically advanced with the development of CRISPR/Cas base editing systems that include cytosi..

Comparison of CRISPR/Cas Endonucleases forin vivoRetinal Gene Editing

Fan Li, Kristof Wing, Jiang-Hui Wang, Chi D Luu, James A Bender, Jinying Chen, Qi Wang, Qinyi Lu, Minh Thuan Nguyen Tran, Kaylene M Young, Raymond CB Wong, Alice Pebay, Anthony L Cook, Sandy SC Hung, Guei-Sheung Liu, Alex W Hewitt

2020-09-10

CRISPR/Cas has opened the prospect of direct gene correction therapy for some inherited retinal diseases. Previous work has demons..

A Simple Differentiation Protocol for Generation of Induced Pluripotent Stem Cell-Derived Basal Forebrain-Like Cholinergic Neurons for Alzheimer's Disease and Frontotemporal Dementia Disease Modeling

Sonia Sanz Munoz, Martin Engel, Rachelle Balez, Dzung Do-Ha, Mauricio Castro Cabral-da-Silva, Damian Hernandez, Tracey Berg, Jennifer A Fifita, Natalie Grima, Shu Yang, Ian P Blair, Garth Nicholson, Anthony L Cook, Alex W Hewitt, Alice Pebay, Lezanne Ooi

2020-09-01

The study of neurodegenerative diseases using pluripotent stem cells requires new methods to assess neurodevelopment and neurodege..

Comparative performance of the BGI and Illumina sequencing technology for single-cell RNA-sequencing

Anne Senabouth, Stacey Andersen, Qianyu Shi, Lei Shi, Feng Jiang, Wenwei Zhang, Kristof Wing, Maciej Daniszewski, Samuel W Lukowski, Sandy SC Hung, Quan Nguyen, Lynn Fink, Anthony Beckhouse, Alice Pebay, Alex W Hewitt, Joseph E Powell

2020-06-01

The libraries generated by high-throughput single cell RNA-sequencing (scRNA-seq) platforms such as the Chromium from 10× Genomics..

Differentiation of Retinal Glial Cells From Human Embryonic Stem Cells by Promoting the Notch Signaling Pathway

Sook Hyun Chung, Weiyong Shen, Kathryn C Davidson, Alice Pebay, Raymond CB Wong, Belinda Yau, Mark Gillies

2019-12-03

Dysfunction of retinal glial cells, particularly Müller cells, has been implicated in several retinal diseases. Despite their impo..

Optimization of silk fibroin membranes for retinal implantation

Shuko Suzuki, Audra MA Shadforth, Samuel McLenachan, Dan Zhang, Shang-Chih Chen, Jennifer Walshe, Grace E Lidgerwood, Alice Pebay, Traian Chirila, Fred K Chen, Damien G Harkin

2019-12-01

Silk fibroin membrane displays potential for ocular tissue reconstruction as demonstrated by its ability to support a functioning ..

Utility of Self-Destructing CRISPR/Cas Constructs for Targeted Gene Editing in the Retina

Fan Li, Sandy SC Hung, Mohd Khairul Nizam Mohd Khalid, Jiang-Hui Wang, Vicki Chrysostomou, Vickie HY Wong, Vikrant Singh, Kristof Wing, Leilei Tu, James A Bender, Alice Pebay, Anna E King, Anthony L Cook, Raymond CB Wong, Bang Bui, Alex W Hewitt, Guei-Sheung Liu

2019-11-01

Safe delivery of CRISPR/Cas endonucleases remains one of the major barriers to the widespread application of in vivo genome editin..

PSEN1 Delta E9, APPswe, and APOE4 Confer Disparate Phenotypes in Human iPSC-Derived Microglia

Henna Konttinen, Mauricio E Castro Cabral-da-Silva, Sohvi Ohtonen, Sara Wojciechowski, Anastasia Shakirzyanova, Simone Caligola, Rosalba Giugno, Yevheniia Ishchenko, Damian Hernandez, Mohammad Feroze Fazaludeen, Shaila Eamen, Mireia Gomez Budia, Ilkka Fagerlund, Flavia Scoyni, Paula Korhonen, Nadine Huber, Annakaisa Haapasalo, Alex W Hewitt, James Vickers, Grady C Smith

2019-10-08

Here we elucidate the effect of Alzheimer disease (AD)-predisposing genetic backgrounds, APOE4, PSEN1ΔE9, and APPswe, on functiona..

Human pluripotent stem cells for the modelling of diseases of the retina and optic nerve: toward a retina in a dish

Grace E Lidgerwood, Alex W Hewitt, Alice Pebay

2019-10-01

Human pluripotent stem cells can be differentiated into specific, relevant cell types of interest including the cells of the retin..

Bio-engineering a tissue flap utilizing a porous scaffold incorporating a human induced pluripotent stem cell-derived endothelial cell capillary network connected to a vascular pedicle

Anne M Kong, Kiryu K Yap, Shiang Y Lim, Diego Marre, Alice Pebay, Yi-wen Gerrand, Jarmon G Lees, Jason A Palmer, Wayne A Morrison, Geraldine M Mitchell

2019-08-01

Tissue flaps are used to cover large/poorly healing wounds, but involve complex surgery and donor site morbidity. In this study a ..

UTILITY OF SELF-DESTRUCTING CRISPR/CAS SYSTEMS FOR TARGETED GENOME EDITING IN THE RETINA

Alex Hewitt, Fan Li, Vicki Chrysostomou, Jonathan Crowston, Alice Pebay, Anna King, Bang Bui, Sandy Hung, Guei Sheung Liu

2016-11-01