Induced pluripotent stem cells (iPSCs) as model to study inherited defects of neurotransmission in inborn errors of metabolism
The ability to reprogram somatic cells to induced pluripotent stem cells (iPSCs) has revolutionized the way of modeling human disease. Especially for the modeling of rare human monogenetic diseases with limited numbers of patients available worldwide and limited access to the mostly affected tissues...
Gespeichert in:
| Hauptverfasser: | , |
|---|---|
| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
6 July 2018
|
| In: |
Journal of inherited metabolic disease
Year: 2018, Jahrgang: 41, Heft: 6, Pages: 1103-1116 |
| ISSN: | 1573-2665 |
| DOI: | 10.1007/s10545-018-0225-9 |
| Online-Zugang: | Verlag, Volltext: https://doi.org/10.1007/s10545-018-0225-9 Verlag, Volltext: https://onlinelibrary.wiley.com/doi/abs/10.1007/s10545-018-0225-9 
|
| Verfasserangaben: | Sabine Jung‐Klawitter, Thomas Opladen |
MARC
| LEADER | 00000caa a2200000 c 4500 | ||
|---|---|---|---|
| 001 | 1681424630 | ||
| 003 | DE-627 | ||
| 005 | 20220817021316.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 191107s2018 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1007/s10545-018-0225-9 |2 doi | |
| 035 | |a (DE-627)1681424630 | ||
| 035 | |a (DE-599)KXP1681424630 | ||
| 035 | |a (OCoLC)1341250437 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rda | ||
| 041 | |a eng | ||
| 084 | |a 33 |2 sdnb | ||
| 100 | 1 | |a Jung-Klawitter, Sabine |d 1979- |e VerfasserIn |0 (DE-588)133247821 |0 (DE-627)539315338 |0 (DE-576)299723895 |4 aut | |
| 245 | 1 | 0 | |a Induced pluripotent stem cells (iPSCs) as model to study inherited defects of neurotransmission in inborn errors of metabolism |c Sabine Jung‐Klawitter, Thomas Opladen |
| 264 | 1 | |c 6 July 2018 | |
| 300 | |a 14 | ||
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a Computermedien |b c |2 rdamedia | ||
| 338 | |a Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Gesehen am 07.11.2019 | ||
| 520 | |a The ability to reprogram somatic cells to induced pluripotent stem cells (iPSCs) has revolutionized the way of modeling human disease. Especially for the modeling of rare human monogenetic diseases with limited numbers of patients available worldwide and limited access to the mostly affected tissues, iPSCs have become an invaluable tool. To study rare diseases affecting neurotransmitter biosynthesis and neurotransmission, stem cell models carrying patient-specific mutations have become highly important as most of the cell types present in the human brain and the central nervous system (CNS), including motoneurons, neurons, oligodendrocytes, astrocytes, and microglia, can be differentiated from iPSCs following distinct developmental programs. Differentiation can be performed using classical 2D differentiation protocols, thereby generating specific subtypes of neurons or glial cells in a dish. On the other side, 3D differentiation into “organoids” opened new ways to study misregulated developmental processes associated with rare neurological and neurometabolic diseases. For the analysis of defects in neurotransmission associated with rare neurometabolic diseases, different types of brain organoids have been made available during the last years including forebrain, midbrain and cerebral organoids. In this review, we illustrate reprogramming of somatic cells to iPSCs, differentiation in 2D and 3D, as well as already available disease-specific iPSC models, and discuss current and future applications of these techniques. | ||
| 700 | 1 | |a Opladen, Thomas |d 1974- |e VerfasserIn |0 (DE-588)124489656 |0 (DE-627)642820481 |0 (DE-576)335321291 |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Journal of inherited metabolic disease |d Hoboken, NJ : Wiley, 1978 |g 41(2018), 6, Seite 1103-1116 |h Online-Ressource |w (DE-627)320457753 |w (DE-600)2006875-X |w (DE-576)105704652 |x 1573-2665 |7 nnas |a Induced pluripotent stem cells (iPSCs) as model to study inherited defects of neurotransmission in inborn errors of metabolism |
| 773 | 1 | 8 | |g volume:41 |g year:2018 |g number:6 |g pages:1103-1116 |g extent:14 |a Induced pluripotent stem cells (iPSCs) as model to study inherited defects of neurotransmission in inborn errors of metabolism |
| 856 | 4 | 0 | |u https://doi.org/10.1007/s10545-018-0225-9 |x Verlag |x Resolving-System |3 Volltext |
| 856 | 4 | 0 | |u https://onlinelibrary.wiley.com/doi/abs/10.1007/s10545-018-0225-9 |x Verlag |3 Volltext |
| 951 | |a AR | ||
| 992 | |a 20191107 | ||
| 993 | |a Article | ||
| 994 | |a 2018 | ||
| 998 | |g 124489656 |a Opladen, Thomas |m 124489656:Opladen, Thomas |d 910000 |d 910500 |e 910000PO124489656 |e 910500PO124489656 |k 0/910000/ |k 1/910000/910500/ |p 2 |y j | ||
| 998 | |g 133247821 |a Jung-Klawitter, Sabine |m 133247821:Jung-Klawitter, Sabine |d 910000 |d 910500 |e 910000PJ133247821 |e 910500PJ133247821 |k 0/910000/ |k 1/910000/910500/ |p 1 |x j | ||
| 999 | |a KXP-PPN1681424630 |e 3538386862 | ||
| BIB | |a Y | ||
| SER | |a journal | ||
| JSO | |a {"title":[{"title":"Induced pluripotent stem cells (iPSCs) as model to study inherited defects of neurotransmission in inborn errors of metabolism","title_sort":"Induced pluripotent stem cells (iPSCs) as model to study inherited defects of neurotransmission in inborn errors of metabolism"}],"relHost":[{"physDesc":[{"extent":"Online-Ressource"}],"origin":[{"dateIssuedDisp":"1978-","publisher":"Wiley ; Kluwer ; Springer Science + Business Media B.V","publisherPlace":"Hoboken, NJ ; Dordrecht [u.a.] ; Dordrecht [u.a.]","dateIssuedKey":"1978"}],"language":["eng"],"disp":"Induced pluripotent stem cells (iPSCs) as model to study inherited defects of neurotransmission in inborn errors of metabolismJournal of inherited metabolic disease","title":[{"subtitle":"JIMD ; official journal of the Society for the Study of Inborn Errors of Metabolism","title_sort":"Journal of inherited metabolic disease","title":"Journal of inherited metabolic disease"}],"id":{"eki":["320457753"],"zdb":["2006875-X"],"issn":["1573-2665"],"doi":["10.1002/(ISSN)1573-2665"]},"titleAlt":[{"title":"JIMD"}],"pubHistory":["1.1978 -"],"type":{"media":"Online-Ressource","bibl":"periodical"},"note":["Gesehen am 11.03.20","Ungezählte Beil.: Suppl"],"part":{"issue":"6","volume":"41","pages":"1103-1116","extent":"14","year":"2018","text":"41(2018), 6, Seite 1103-1116"},"recId":"320457753"}],"name":{"displayForm":["Sabine Jung‐Klawitter, Thomas Opladen"]},"physDesc":[{"extent":"14 S."}],"id":{"doi":["10.1007/s10545-018-0225-9"],"eki":["1681424630"]},"origin":[{"dateIssuedDisp":"6 July 2018","dateIssuedKey":"2018"}],"language":["eng"],"person":[{"display":"Jung-Klawitter, Sabine","roleDisplay":"VerfasserIn","role":"aut","given":"Sabine","family":"Jung-Klawitter"},{"family":"Opladen","roleDisplay":"VerfasserIn","role":"aut","given":"Thomas","display":"Opladen, Thomas"}],"recId":"1681424630","note":["Gesehen am 07.11.2019"],"type":{"media":"Online-Ressource","bibl":"article-journal"}} | ||
| SRT | |a JUNGKLAWITINDUCEDPLU6201 | ||