Induced pluripotent stem cell technology: a decade of progress
Since the advent of induced pluripotent stem cell (iPSC) technology a decade ago,
enormous progress has been made in stem cell biology and regenerative medicine. Human …
enormous progress has been made in stem cell biology and regenerative medicine. Human …
Dysregulation and restoration of translational homeostasis in fragile X syndrome
JD Richter, GJ Bassell, E Klann - Nature Reviews Neuroscience, 2015 - nature.com
Fragile X syndrome (FXS), the most-frequently inherited form of intellectual disability and the
most-prevalent single-gene cause of autism, results from a lack of fragile X mental …
most-prevalent single-gene cause of autism, results from a lack of fragile X mental …
3D cell-based assays for drug screens: challenges in imaging, image analysis, and high-content analysis
TH Booij, LS Price, EHJ Danen - … Discovery: Advancing Life …, 2019 - journals.sagepub.com
The introduction of more relevant cell models in early preclinical drug discovery, combined
with high-content imaging and automated analysis, is expected to increase the quality of …
with high-content imaging and automated analysis, is expected to increase the quality of …
CGG repeat RNA G-quadruplexes interact with FMRpolyG to cause neuronal dysfunction in fragile X-related tremor/ataxia syndrome
S Asamitsu, Y Yabuki, S Ikenoshita, K Kawakubo… - Science …, 2021 - science.org
Fragile X-related tremor/ataxia syndrome (FXTAS) is a neurodegenerative disease caused
by CGG triplet repeat expansions in FMR1, which elicit repeat-associated non-AUG (RAN) …
by CGG triplet repeat expansions in FMR1, which elicit repeat-associated non-AUG (RAN) …
Human induced pluripotent stem cells for modelling neurodevelopmental disorders
We currently have a poor understanding of the pathogenesis of neurodevelopmental
disorders, owing to the fact that postmortem and imaging studies can only measure the …
disorders, owing to the fact that postmortem and imaging studies can only measure the …
[HTML][HTML] Stem cells, genome editing, and the path to translational medicine
F Soldner, R Jaenisch - Cell, 2018 - cell.com
The derivation of human embryonic stem cells (hESCs) and the stunning discovery that
somatic cells can be reprogrammed into human induced pluripotent stem cells (hiPSCs) …
somatic cells can be reprogrammed into human induced pluripotent stem cells (hiPSCs) …
[HTML][HTML] Aberrant RNA translation in fragile X syndrome: From FMRP mechanisms to emerging therapeutic strategies
Research in the past decades has unfolded the multifaceted role of Fragile X mental
retardation protein (FMRP) and how its absence contributes to the pathophysiology of …
retardation protein (FMRP) and how its absence contributes to the pathophysiology of …
[HTML][HTML] Association between IQ and FMR1 protein (FMRP) across the spectrum of CGG repeat expansions
K Kim, D Hessl, JL Randol, GM Espinal, A Schneider… - PLoS …, 2019 - journals.plos.org
Fragile X syndrome, the leading heritable form of intellectual disability, is caused by
hypermethylation and transcriptional silencing of large (CGG) repeat expansions (> 200 …
hypermethylation and transcriptional silencing of large (CGG) repeat expansions (> 200 …
Patient-derived iPSC modeling of rare neurodevelopmental disorders: Molecular pathophysiology and prospective therapies
The pathological alterations that manifest during the early embryonic development due to
inherited and acquired factors trigger various neurodevelopmental disorders (NDDs) …
inherited and acquired factors trigger various neurodevelopmental disorders (NDDs) …
Human pluripotent stem cell–derived models and drug screening in CNS precision medicine
MC Silva, SJ Haggarty - Annals of the New York Academy of …, 2020 - Wiley Online Library
Abstract Development of effective therapeutics for neurological disorders has historically
been challenging partly because of lack of accurate model systems in which to investigate …
been challenging partly because of lack of accurate model systems in which to investigate …