CRISPR and iPSCs: recent developments and future perspectives in neurodegenerative disease modelling, research, and therapeutics
T Sen, RP Thummer - Neurotoxicity Research, 2022 - Springer
Neurodegenerative diseases are prominent causes of pain, suffering, and death worldwide.
Traditional approaches modelling neurodegenerative diseases are deficient, and therefore …
Traditional approaches modelling neurodegenerative diseases are deficient, and therefore …
CRISPR-Cas9 genome engineering: treating inherited retinal degeneration
ER Burnight, JC Giacalone, JA Cooke… - Progress in retinal and …, 2018 - Elsevier
Gene correction is a valuable strategy for treating inherited retinal degenerative diseases, a
major cause of irreversible blindness worldwide. Single gene defects cause the majority of …
major cause of irreversible blindness worldwide. Single gene defects cause the majority of …
Human in vitro models of epilepsy using embryonic and induced pluripotent stem cells
MS Javaid, T Tan, N Dvir, A Anderson, T J. O'Brien… - Cells, 2022 - mdpi.com
The challenges in making animal models of complex human epilepsy phenotypes with
varied aetiology highlights the need to develop alternative disease models that can address …
varied aetiology highlights the need to develop alternative disease models that can address …
CLN3, at the crossroads of endocytic trafficking
SL Cotman, S Lefrancois - Neuroscience letters, 2021 - Elsevier
The CLN3 gene was identified over two decades ago, but the primary function of the CLN3
protein remains unknown. Recessive inheritance of loss of function mutations in CLN3 are …
protein remains unknown. Recessive inheritance of loss of function mutations in CLN3 are …
Application of induced pluripotent stem cells in epilepsy
S Hirose, Y Tanaka, M Shibata, Y Kimura… - Molecular and Cellular …, 2020 - Elsevier
Epilepsy is among the most common neurological disorders, affecting approximately 50
million people worldwide. Importantly, epilepsy is genetically and etiologically …
million people worldwide. Importantly, epilepsy is genetically and etiologically …
Correction of NR2E3 associated enhanced S-cone syndrome patient-specific iPSCs using CRISPR-Cas9
Enhanced S-cone syndrome (ESCS) is caused by recessive mutations in the photoreceptor
cell transcription factor NR2E3. Loss of NR2E3 is characterized by repression of rod …
cell transcription factor NR2E3. Loss of NR2E3 is characterized by repression of rod …
[HTML][HTML] Cardiac pathology in neuronal ceroid lipofuscinoses (NCL): More than a mere co-morbidity
K Rietdorf, EE Coode, A Schulz, E Wibbeler… - … et Biophysica Acta (BBA …, 2020 - Elsevier
The neuronal ceroid lipofuscinoses (NCLs) are mostly seen as diseases affecting the central
nervous system, but there is accumulating evidence that they have co-morbidities outside …
nervous system, but there is accumulating evidence that they have co-morbidities outside …
[HTML][HTML] Robust genome and RNA editing via CRISPR nucleases in PiggyBac systems
CRISPR/Cas-mediated genome editing in human pluripotent stem cells (hPSCs) offers
unprecedented opportunities for developing in vitro disease modeling, drug screening and …
unprecedented opportunities for developing in vitro disease modeling, drug screening and …
Patient-derived induced pluripotent stem cell models for phenotypic screening in the neuronal ceroid lipofuscinoses
A Morsy, AV Carmona, PC Trippier - Molecules, 2021 - mdpi.com
Batten disease or neuronal ceroid lipofuscinosis (NCL) is a group of rare, fatal, inherited
neurodegenerative lysosomal storage disorders. Numerous genes (CLN1–CLN8, CLN10 …
neurodegenerative lysosomal storage disorders. Numerous genes (CLN1–CLN8, CLN10 …
Stem cell sources and characterization in the development of cell-based products for treating retinal disease: An NEI Town Hall report
AM Fortress, KJ Miyagishima, AA Reed… - Stem cell research & …, 2023 - Springer
Abstract National Eye Institute recently issued a new Strategic Plan outlining priority
research areas for the next 5 years. Starting cell source for deriving stem cell lines is as an …
research areas for the next 5 years. Starting cell source for deriving stem cell lines is as an …