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Molecular and functional characterization of FD-iPSC derived neural crest precursor cells

ABSTRACT: Global gene expression analysis of FD-iPSC and deribved neural crest cells Here we report the derivation of patient specific Familial Dysautonomia-iPSCs and their directed differentiation into multiple cell types capable of modeling the tissue specific splicing defect in vitro. Undifferentiated hESCs were exposed to control and drug treatments for 24 hours followed by mRNA expression analysis Global gene expression analysis of FD-iPSC and derived neural crest cells

ORGANISM(S): Homo sapiens

SUBMITTER: Agnes Viale

PROVIDER: E-GEOD-17043 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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Modelling pathogenesis and treatment of familial dysautonomia using patient-specific iPSCs.

Lee Gabsang G Papapetrou Eirini P EP Kim Hyesoo H Chambers Stuart M SM Tomishima Mark J MJ Fasano Christopher A CA Ganat Yosif M YM Menon Jayanthi J Shimizu Fumiko F Viale Agnes A Tabar Viviane V Sadelain Michel M Studer Lorenz L

Nature 20090819 7262

The isolation of human induced pluripotent stem cells (iPSCs) offers a new strategy for modelling human disease. Recent studies have reported the derivation and differentiation of disease-specific human iPSCs. However, a key challenge in the field is the demonstration of disease-related phenotypes and the ability to model pathogenesis and treatment of disease in iPSCs. Familial dysautonomia (FD) is a rare but fatal peripheral neuropathy, caused by a point mutation in the IKBKAP gene involved in ...[more]

PMID: 19693009

Similar Datasets

Molecular and functional characterization of FD-iPSC derived neural crest precursor cells

Project description:Global gene expression analysis of FD-iPSC and deribved neural crest cells Here we report the derivation of patient specific Familial Dysautonomia-iPSCs and their directed differentiation into multiple cell types capable of modeling the tissue specific splicing defect in vitro.

2009-08-31 | GSE17043 | GEO

RNA sequencing of hiPSC derived neural crest populations from Familial Dysautonomia patients

Project description:We have generated expression profiles of induced pluripotent stem cells (iPSCs) and iPSC-derived neural crest populations from Familial Dysautonomia patients. These profiles were compared to a normal iPSC line that does not harbor the IKBKAP mutation. All cell types were differentiated from patient derived iPSCs. Bulk iPSCs were harvested for RNA and the neural crest populations were sorted on day 18 for p75/HNK1 before RNA isolation.

2016-10-25 | E-GEOD-67073 | biostudies-arrayexpress

RNA sequencing of hiPSC derived neural crest populations from Familial Dysautonomia patients

2016-10-25 | GSE67073 | GEO

Disease Severity in Familial Dysautonomia

Project description:<p>Familial Dysautonomia (FD) is a developmental and degenerative genetic disease that manifests in the neural crest cells and peripheral nervous system (PNS). Despite all FD patients having the same mutation in <i>IKBKAP</i>, patients present with varying disease severity, ranging from mild to severe. We used the human pluripotent stem cell technology to recapitulate this varying disease severity in the dish. Further, we found that severe, but not mild patients harbor mutations in candidate modifier genes that may contribute to severe disease presentation.</p>

| phs001233 | dbGaP

Transcription profiling of human olfactory ecto-mesenchymal stem cells (hOE-MSCs) from familial dysautonomia (FD) patients with or without kinetin treatment

Project description:Human olfactory ecto-mesenchymal stem cells (hOE-MSCs) from controls and familial dysautonomia (FD) patients were cultured in either sphere-forming conditions (ITS + EGF + bFGF) or in the presence of retinoic acid, forskolin and Sonic Hedgehog (rafnshh) for 7 days to induce neuroglial differentiation and were also treated or not with kinetin (100 mM for 48h) which corrects the aberrant splicing of IKBKAP mRNA. We used the recently described model of human olfactory ecto-mesenchymal stem cells to identify genes differentially expressed between controls and familial dysautonomia patients, and also the genes sensitive to kinetin which corrects aberrant splicing of IKBKAP mRNA Total RNAs were extracted from 20 samples including: 4 control and 4 FD hOE-MSCs-derived sphere cultures, 4 control and 4 FD rafnshh-treated hOE-MSCs, 4 FD rafnshh-treated hOE-MSCs in the presence of kinetin

2012-01-01 | E-GEOD-27915 | biostudies-arrayexpress

Analysis of peripheral neuron protein expression in the absence of Ikbkap/Elp1

Project description:Familial dysautonomia (FD) results from mutation in IKBKAP/ELP1, a gene encoding the scaffolding protein for the Elongator complex. This highly conserved complex is required for the methoxy-carbonyl-methyl (mcm5) modification of uridines located in the wobble position of tRNA molecules (U34). In FD, the peripheral nervous system is particularly devastated by loss of IKBKAP. Here we investigate protein expression within the dorsal root ganglia (DRG) of a mouse model of FD. In this model, Ikbkap is selectively deleted in the neural crest lineage using a Wnt1-Cre transgene and floxed Ikbkap. DRG were collected and pooled from seven Ikbkap conditional knockout (Wnt1-Cre;IkbkapLoxP/LoxP) and seven control E17.5 mice and analyzed via UHPLC-MS/MS.

| MSV000081568 | MassIVE

Transcription profiling of human olfactory ecto-mesenchymal stem cells (hOE-MSCs) from familial dysautonomia (FD) patients with or without kinetin treatment

2012-01-01 | GSE27915 | GEO

Homo sapiens

Project description:Molecular and functional characterization of FD-iPSC derived neural crest precursor cells

| PRJNA117847 | ENA

Genipin rescues developmental and degenerative defects in familial dysautonomia models and accelerates axon regeneration

Project description:The peripheral nervous system (PNS) is essential for proper body function. A high percentage of the world’s population suffers nerve degeneration or peripheral nerve damage. Despite this, there are major gaps in the knowledge of human PNS development and degeneration and therefore, there are no available treatments. Familial Dysautonomia (FD) is a devastating disorder caused by a homozygous point mutation in the gene ELP1. FD specifically affects the development and causes degeneration of the PNS. We previously employed patient-derived induced pluripotent stem cells (iPSCs) to show that peripheral sensory neurons (SNs) recapitulate the developmental and neurodegenerative defects observed in FD. Here, we conducted a chemical screen to identify compounds that rescue the SN differentiation inefficiency in FD. We identified that genipin restores neural crest and SN development in patient derived iPSCs and in two mouse models of FD. Additionally, genipin prevented FD degeneration in SNs derived from patients with FD, suggesting that it could be used to ameliorate neurodegeneration. Moreover, genipin crosslinked the extracellular matrix (ECM), increased the stiffness of the ECM, reorganized the actin cytoskeleton, and promoted transcription of YAP-dependent genes. Finally, genipin enhanced axon regeneration in healthy sensory and sympathetic neurons (part of the PNS), and in prefrontal cortical neurons (part of the central nervous system), in in vitro axotomy models. Our results suggest that genipin has the potential to treat FD-related neurodevelopmental and neurodegenerative phenotypes, and to enhance neuronal regeneration of healthy neurons after injury. Moreover, this suggests that the ECM can be targeted to treat FD.

2024-11-20 | GSE265932 | GEO

FD and vegetative development

Project description:Perennial plants alternate between periods of active growth and periods of dormancy. Prerequisite to bud dormancy is the formation of an apical bud. Short day photoperiod in the fall induces bud formation in poplar. Transgenic plants overexpressing the bZIP transcription factor FD do not stop growing and do not form a bud. In order to better understand the molecular events leading to bud formation, we used microarrays to compare the transcriptomes of shoot tips of poplars overexpressing FD and wild type plants (1) grown under long day conditions and (2) collected after 3 weeks under short day conditions

2017-12-22 | GSE49547 | GEO

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