Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

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

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

PROVIDER: PRJNA1104994 | ENA |

REPOSITORIES: ENA

ACCESS DATA

Json Xml

Dataset's files

Source:

			Action	DRS
	SRR28819654_1.fastq.gz	Fastqsanger.gz
	SRR28819654_2.fastq.gz	Fastqsanger.gz
	SRR28819655_1.fastq.gz	Fastqsanger.gz
	SRR28819655_2.fastq.gz	Fastqsanger.gz
	SRR28819656_1.fastq.gz	Fastqsanger.gz

Items per page:

1 - 5 of 24

Similar Datasets

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

Capturing the biology of mild versus severe disease in a pluripotent stem cell-based model of Familial Dysautonomia

Project description:Familial Dysautonomia is a genetic disease, however patietns with the same genotype present with mild or severe forms of the disease. We used the pluripotent stem cell technology to capture the differences in disease severity in vitro during neurodevelopment as well as during maintanance of the cells, showing developmental and degenerative phenotypes. RNA seq. analysis of the groups confirmed those diffferences.

2016-11-14 | GSE77513 | GEO

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

Effects of IKAP/hELP1 deficiency on gene expression in differentiating neuroblastoma cells, implications for Familial dysautonomia

Project description:Investigate IKAP importance in the development of neuronal cells, in order to understand Familial dysautonomia phenotype.

2011-01-06 | GSE26458 | GEO

Transcription profiling by array of human olfactory ecto-mesenchymal stem cells in familial dysautonomia

Project description:Exploration of transcriptome expression in 5 control and 4 familial dysautonomia (FD) human olfactory ecto-mesenchymal stem cells (hOE-MSCs) at very early (P1 and P2) and later (P5 and P9) cell passages.

2011-01-01 | E-MTAB-281 | biostudies-arrayexpress

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

Effects of IKAP/hELP1 deficiency on gene expression in differentiating neuroblastoma cells, implications for Familial dysautonomia

Project description:Investigate IKAP importance in the development of neuronal cells, in order to understand Familial dysautonomia phenotype. Stable SHSY5Y cell lines, and control cells, in differentiated and un-differentiated conditions.

2011-01-06 | E-GEOD-26458 | biostudies-arrayexpress

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

2012-01-01 | GSE27915 | GEO

Axon Transport and Neuropathy: Relevant Perspectives on the Etiopathogenesis of Familial Dysautonomia.

Project description:Peripheral neuropathies are highly prevalent and are most often associated with chronic disease, side effects from chemotherapy, or toxic-metabolic abnormalities. Neuropathies are less commonly caused by genetic mutations, but studies of the normal function of mutated proteins have identified particular vulnerabilities that often implicate mitochondrial dynamics and axon transport mechanisms. Hereditary sensory and autonomic neuropathies are a group of phenotypically related diseases caused by monogenic mutations that primarily affect sympathetic and sensory neurons. Here, I review evidence to indicate that many genetic neuropathies are caused by abnormalities in axon transport. Moreover, in hereditary sensory and autonomic neuropathies. There may be specific convergence on gene mutations that disrupt nerve growth factor signaling, upon which sympathetic and sensory neurons critically depend.

| S-EPMC4816694 | biostudies-literature

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

Tweets

OmicsDI Databases

PRIDE
PeptideAtlas
MassIVE
JPOST Repository
Physiome Model Repository

EGA
EVA
ENA
LINCS
PAXDB
Cell Collective

MetaboLights
Metabolomics Workbench
MetabolomeExpress
GNPS
BioModels
FAIRDOMHub

ArrayExpress
dbGaP
ExpressionAtlas
GEO
NODE

Information

Databases
Help
API
Contact us
Code on GitHub
Terms of use
Submit Data