Literature DB >> 29128445

The promise of induced pluripotent stem cells for neurodevelopmental disorders.

Katrin Linda1, Carol Fiuza1, Nael Nadif Kasri2.   

Abstract

A major challenge in clinical genetics and medicine is represented by genetically and phenotypically highly diverse neurodevelopmental disorders, like for example intellectual disability and autism. Intellectual disability is characterized by substantial limitations in cognitive function and adaptive behaviour. At the cellular level, this is reflected by deficits in synaptic structure and plasticity and therefore has been coined as a synaptic disorder or "synaptopathy". In this review, we summarize the findings from recent studies in which iPSCs have been used to model specific neurodevelopmental syndromes, including Fragile X syndrome, Rett syndrome, Williams-Beuren syndrome and Phelan-McDermid syndrome. We discuss what we have learned from these studies and what key issues need to be addressed to move the field forward.
Copyright © 2017 Elsevier Inc. All rights reserved.

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Year:  2017        PMID: 29128445     DOI: 10.1016/j.pnpbp.2017.11.009

Source DB:  PubMed          Journal:  Prog Neuropsychopharmacol Biol Psychiatry        ISSN: 0278-5846            Impact factor:   5.067


  3 in total

Review 1.  SHANK family on stem cell fate and development.

Authors:  Xu Liu; Mengmeng Yuan; Benson Wui-Man Lau; Yue Li
Journal:  Cell Death Dis       Date:  2022-10-18       Impact factor: 9.685

2.  Dissecting transcriptomic signatures of neuronal differentiation and maturation using iPSCs.

Authors:  Emily E Burke; Joshua G Chenoweth; Joo Heon Shin; Leonardo Collado-Torres; Suel-Kee Kim; Nicola Micali; Yanhong Wang; Carlo Colantuoni; Richard E Straub; Daniel J Hoeppner; Huei-Ying Chen; Alana Sellers; Kamel Shibbani; Gregory R Hamersky; Marcelo Diaz Bustamante; BaDoi N Phan; William S Ulrich; Cristian Valencia; Amritha Jaishankar; Amanda J Price; Anandita Rajpurohit; Stephen A Semick; Roland W Bürli; James C Barrow; Daniel J Hiler; Stephanie C Page; Keri Martinowich; Thomas M Hyde; Joel E Kleinman; Karen F Berman; Jose A Apud; Alan J Cross; Nicholas J Brandon; Daniel R Weinberger; Brady J Maher; Ronald D G McKay; Andrew E Jaffe
Journal:  Nat Commun       Date:  2020-01-23       Impact factor: 14.919

3.  Severe white matter damage in SHANK3 deficiency: a human and translational study.

Authors:  Sarah Jesse; Hans-Peter Müller; Michael Schoen; Harun Asoglu; Juergen Bockmann; Hans-Juergen Huppertz; Volker Rasche; Albert C Ludolph; Tobias M Boeckers; Jan Kassubek
Journal:  Ann Clin Transl Neurol       Date:  2019-12-02       Impact factor: 4.511

  3 in total

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