Literature DB >> 28392281

Human stem cell modeling in neurofibromatosis type 1 (NF1).

Michelle L Wegscheid1, Corina Anastasaki1, David H Gutmann2.   

Abstract

The future of precision medicine is heavily reliant on the use of human tissues to identify the key determinants that account for differences between individuals with the same disorder. This need is exemplified by the neurofibromatosis type 1 (NF1) neurogenetic condition. As such, individuals with NF1 are born with a germline mutation in the NF1 gene, but may develop numerous distinct neurological problems, ranging from autism and attention deficit to brain and peripheral nerve sheath tumors. Coupled with accurate preclinical mouse models, the availability of NF1 patient-derived induced pluripotent stem cells (iPSCs) provides new opportunities to define the critical factors that underlie NF1-associated nervous system disease pathogenesis and progression. In this review, we discuss the generation and potential applications of iPSC technology to the study of NF1.
Copyright © 2017 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  Microglia; NF1; Neurodevelopment; Neurofibroma; Optic pathway glioma; Retinal ganglion cell; Stem cell; Tumor; iPSC

Mesh:

Substances:

Year:  2017        PMID: 28392281      PMCID: PMC5630478          DOI: 10.1016/j.expneurol.2017.04.001

Source DB:  PubMed          Journal:  Exp Neurol        ISSN: 0014-4886            Impact factor:   5.330


  124 in total

1.  A robust method to derive functional neural crest cells from human pluripotent stem cells.

Authors:  Faith R Kreitzer; Nathan Salomonis; Alice Sheehan; Miller Huang; Jason S Park; Matthew J Spindler; Paweena Lizarraga; William A Weiss; Po-Lin So; Bruce R Conklin
Journal:  Am J Stem Cells       Date:  2013-06-30

2.  Inactivation of NF1 in CNS causes increased glial progenitor proliferation and optic glioma formation.

Authors:  Yuan Zhu; Takayuki Harada; Li Liu; Mark E Lush; Frantz Guignard; Chikako Harada; Dennis K Burns; M Livia Bajenaru; David H Gutmann; Luis F Parada
Journal:  Development       Date:  2005-12       Impact factor: 6.868

3.  A high-efficiency system for the generation and study of human induced pluripotent stem cells.

Authors:  Nimet Maherali; Tim Ahfeldt; Alessandra Rigamonti; Jochen Utikal; Chad Cowan; Konrad Hochedlinger
Journal:  Cell Stem Cell       Date:  2008-09-11       Impact factor: 24.633

4.  Genetic correction of a LRRK2 mutation in human iPSCs links parkinsonian neurodegeneration to ERK-dependent changes in gene expression.

Authors:  Peter Reinhardt; Benjamin Schmid; Lena F Burbulla; David C Schöndorf; Lydia Wagner; Michael Glatza; Susanne Höing; Gunnar Hargus; Susanna A Heck; Ashutosh Dhingra; Guangming Wu; Stephan Müller; Kathrin Brockmann; Torsten Kluba; Martina Maisel; Rejko Krüger; Daniela Berg; Yaroslav Tsytsyura; Cora S Thiel; Olympia-Ekaterini Psathaki; Jürgen Klingauf; Tanja Kuhlmann; Marlene Klewin; Heiko Müller; Thomas Gasser; Hans R Schöler; Jared Sterneckert
Journal:  Cell Stem Cell       Date:  2013-03-07       Impact factor: 24.633

5.  Somatic coding mutations in human induced pluripotent stem cells.

Authors:  Athurva Gore; Zhe Li; Ho-Lim Fung; Jessica E Young; Suneet Agarwal; Jessica Antosiewicz-Bourget; Isabel Canto; Alessandra Giorgetti; Mason A Israel; Evangelos Kiskinis; Je-Hyuk Lee; Yuin-Han Loh; Philip D Manos; Nuria Montserrat; Athanasia D Panopoulos; Sergio Ruiz; Melissa L Wilbert; Junying Yu; Ewen F Kirkness; Juan Carlos Izpisua Belmonte; Derrick J Rossi; James A Thomson; Kevin Eggan; George Q Daley; Lawrence S B Goldstein; Kun Zhang
Journal:  Nature       Date:  2011-03-03       Impact factor: 49.962

Review 6.  Reprogramming with Small Molecules instead of Exogenous Transcription Factors.

Authors:  Tongxiang Lin; Shouhai Wu
Journal:  Stem Cells Int       Date:  2015-04-01       Impact factor: 5.443

7.  Highly efficient direct conversion of human fibroblasts to neuronal cells by chemical compounds.

Authors:  Ping Dai; Yoshinori Harada; Tetsuro Takamatsu
Journal:  J Clin Biochem Nutr       Date:  2015-04-01       Impact factor: 3.114

8.  Induced pluripotent stem cell generation-associated point mutations arise during the initial stages of the conversion of these cells.

Authors:  Mayumi Sugiura; Yasuji Kasama; Ryoko Araki; Yuko Hoki; Misato Sunayama; Masahiro Uda; Miki Nakamura; Shunsuke Ando; Masumi Abe
Journal:  Stem Cell Reports       Date:  2014-01-02       Impact factor: 7.765

9.  Seamless gene correction of β-thalassemia mutations in patient-specific iPSCs using CRISPR/Cas9 and piggyBac.

Authors:  Fei Xie; Lin Ye; Judy C Chang; Ashley I Beyer; Jiaming Wang; Marcus O Muench; Yuet Wai Kan
Journal:  Genome Res       Date:  2014-08-05       Impact factor: 9.043

10.  Self-Organizing 3D Human Neural Tissue Derived from Induced Pluripotent Stem Cells Recapitulate Alzheimer's Disease Phenotypes.

Authors:  Waseem K Raja; Alison E Mungenast; Yuan-Ta Lin; Tak Ko; Fatema Abdurrob; Jinsoo Seo; Li-Huei Tsai
Journal:  PLoS One       Date:  2016-09-13       Impact factor: 3.240

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  10 in total

1.  Neurofibromatosis Type 1 Implicates Ras Pathways in the Genetic Architecture of Neurodevelopmental Disorders.

Authors:  Jessica A Kaczorowski; Taylor F Smith; Amanda M Shrewsbury; Leah R Thomas; Valerie S Knopik; Maria T Acosta
Journal:  Behav Genet       Date:  2020-02-05       Impact factor: 2.805

Review 2.  Constructing and Deconstructing Cancers using Human Pluripotent Stem Cells and Organoids.

Authors:  Ryan C Smith; Viviane Tabar
Journal:  Cell Stem Cell       Date:  2018-12-20       Impact factor: 24.633

Review 3.  Emerging therapeutic targets for neurofibromatosis type 1.

Authors:  James A Walker; Meena Upadhyaya
Journal:  Expert Opin Ther Targets       Date:  2018-05-07       Impact factor: 6.902

4.  Reprogramming Captures the Genetic and Tumorigenic Properties of Neurofibromatosis Type 1 Plexiform Neurofibromas.

Authors:  Meritxell Carrió; Helena Mazuelas; Yvonne Richaud-Patin; Bernat Gel; Ernest Terribas; Imma Rosas; Senda Jimenez-Delgado; Josep Biayna; Leen Vendredy; Ignacio Blanco; Elisabeth Castellanos; Conxi Lázaro; Ángel Raya; Eduard Serra
Journal:  Stem Cell Reports       Date:  2019-01-31       Impact factor: 7.765

5.  The Noonan Syndrome-linked Raf1L613V mutation drives increased glial number in the mouse cortex and enhanced learning.

Authors:  Michael C Holter; Lauren T Hewitt; Stephanie V Koebele; Jessica M Judd; Lei Xing; Heather A Bimonte-Nelson; Cheryl D Conrad; Toshiyuki Araki; Benjamin G Neel; William D Snider; Jason M Newbern
Journal:  PLoS Genet       Date:  2019-04-24       Impact factor: 5.917

Review 6.  Optic Pathway Glioma in Type 1 Neurofibromatosis: Review of Its Pathogenesis, Diagnostic Assessment, and Treatment Recommendations.

Authors:  Matteo Cassina; Luisa Frizziero; Enrico Opocher; Raffaele Parrozzani; Ugo Sorrentino; Elisabetta Viscardi; Giacomo Miglionico; Edoardo Midena; Maurizio Clementi; Eva Trevisson
Journal:  Cancers (Basel)       Date:  2019-11-14       Impact factor: 6.639

Review 7.  Modeling cancer progression using human pluripotent stem cell-derived cells and organoids.

Authors:  Meili Zhang; J Jeya Vandana; Lauretta Lacko; Shuibing Chen
Journal:  Stem Cell Res       Date:  2020-10-27       Impact factor: 2.020

Review 8.  Malignant peripheral nerve sheath tumor: models, biology, and translation.

Authors:  Bandarigoda N Somatilaka; Ali Sadek; Renee M McKay; Lu Q Le
Journal:  Oncogene       Date:  2022-04-07       Impact factor: 8.756

Review 9.  SCN2A channelopathies in the autism spectrum of neuropsychiatric disorders: a role for pluripotent stem cells?

Authors:  Karina A Kruth; Tierney M Grisolano; Christopher A Ahern; Aislinn J Williams
Journal:  Mol Autism       Date:  2020-04-07       Impact factor: 7.509

10.  Reproducibility of cognitive endpoints in clinical trials: lessons from neurofibromatosis type 1.

Authors:  Jonathan M Payne; Stephen J C Hearps; Karin S Walsh; Iris Paltin; Belinda Barton; Nicole J Ullrich; Kristina M Haebich; David Coghill; Gerard A Gioia; Alan Cantor; Gary Cutter; James H Tonsgard; David Viskochil; Celiane Rey-Casserly; Elizabeth K Schorry; Joseph D Ackerson; Laura Klesse; Michael J Fisher; David H Gutmann; Tena Rosser; Roger J Packer; Bruce Korf; Maria T Acosta; Kathryn N North
Journal:  Ann Clin Transl Neurol       Date:  2019-12-03       Impact factor: 4.511

  10 in total

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