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Stem Cells and Autism Research

Guest Editors: 
Deepak P. Srivastava, King's College London
Edna Grünblatt, University Hospital of Psychiatry Zurich
Adrian J. Harwood, Cardiff University

The Editors-in-Chief of Molecular Autism, Simon Baron-Cohen and Joseph Buxbaum, in collaboration with the Guest Editors, invite the submission of articles to a thematic series on Stem Cells and Autism Research.

Patient specific induced pluripotent stem cells (iPSCs) promise new opportunities in encapturing the complex underpinnings of Autism Spectrum Conditions. Importantly, this cellular system recapitulates the genetic landscape associated with Autism Spectrum Conditions.

Thus, this system holds much promise in unravelling the molecular underpinnings, understanding how the complex polygenetic architecture results into altered neuronal functions, and investigating the interaction of neuro-immune and environmental factors contribute to developing these conditions. However, as with any nascent technique, challenges surrounding the use of this system have also emerged.

This thematic series aims to provide a collection of Reviews and Primary Research Articles that will provide a valuable overview of how iPSC-based technologies have furthered our understanding of the complexities and aetiology of all forms of autism, as well as the considerations researchers should make when designing studies utilising patient specific iPSCs.

Topics to be covered include (but are not limited to):

• Studies focused on translating genetic risk into biological functions relevant for Autism spectrum conditions;

• Using stem cells models to understand how environmental perturbations influence neurodevelopment and increase risk of developing Autism spectrum conditions;

• Modelling genetic and epigenetic underpinnings of Autism spectrum conditions using stem cell models;

• Considerations for designing stem cell studies: e.g. which patient samples to use and how to reduce variability between experiments/studies.

Articles must be submitted through Editorial Manager by 31st October 2019. Please indicate at the Additional Information stage of submission that you are submitting to the Stem Cells and Autism Research article collection. All manuscripts received will be subject to peer review as is standard for the journal.

  1. Autism spectrum disorder (ASD) comprises a group of neurodevelopmental disorders characterized by impaired social interactions as well as the presentation of restrictive and repetitive behaviors. ASD is highly...

    Authors: Greta Pintacuda, Jacqueline M. Martín and Kevin C. Eggan

    Citation: Molecular Autism 2021 12:10

    Content type: Review

    Published on:

  2. The inability to observe relevant biological processes in vivo significantly restricts human neurodevelopmental research. Advances in appropriate in vitro model systems, including patient-specific human brain ...

    Authors: Dwaipayan Adhya, George Chennell, James A. Crowe, Eva P. Valencia-Alarcón, James Seyforth, Neveen A. Hosny, Marina V. Yasvoina, Robert Forster, Simon Baron-Cohen, Anthony C. Vernon and Deepak P. Srivastava

    Citation: Molecular Autism 2021 12:4

    Content type: Methodology

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  3. The controlled differentiation of pluripotent stem cells (PSCs) into neurons and glia offers a unique opportunity to study early stages of human central nervous system development under controlled conditions i...

    Authors: Arquimedes Cheffer, Lea Jessica Flitsch, Tamara Krutenko, Pascal Röderer, Liubov Sokhranyaeva, Vira Iefremova, Mohamad Hajo, Michael Peitz, Martin Karl Schwarz and Oliver Brüstle

    Citation: Molecular Autism 2020 11:99

    Content type: Review

    Published on:

  4. Autism spectrum disorder (ASD) is a highly prevalent neurodevelopmental condition affecting almost 1% of children, and represents a major unmet medical need with no effective drug treatment available. Duplicat...

    Authors: Francesca Cavallo, Flavia Troglio, Giovanni Fagà, Daniele Fancelli, Reinald Shyti, Sebastiano Trattaro, Matteo Zanella, Giuseppe D’Agostino, James M. Hughes, Maria Rosaria Cera, Maurizio Pasi, Michele Gabriele, Maddalena Lazzarin, Marija Mihailovich, Frank Kooy, Alessandro Rosa…

    Citation: Molecular Autism 2020 11:88

    Content type: Research

    Published on:

  5. Tuberous sclerosis complex (TSC) is a rare genetic multisystemic disorder resulting from autosomal dominant mutations in the TSC1 or TSC2 genes. It is characterised by hyperactivation of the mechanistic target of...

    Authors: Mouhamed Alsaqati, Vivi M. Heine and Adrian J. Harwood

    Citation: Molecular Autism 2020 11:80

    Content type: Research

    Published on:

  6. The complex pathophysiology of autism spectrum disorder encompasses interactions between genetic and environmental factors. On the one hand, hundreds of genes, converging at the functional level on selective b...

    Authors: Cristina Cheroni, Nicolò Caporale and Giuseppe Testa

    Citation: Molecular Autism 2020 11:69

    Content type: Review

    Published on:

  7. Phelan-McDermid syndrome (PMS) is a rare genetic disorder with high risk of autism spectrum disorder (ASD), intellectual disability, and language delay, and is caused by 22q13.3 deletions or mutations in the SHAN...

    Authors: Michael S. Breen, Andrew Browne, Gabriel E. Hoffman, Sofia Stathopoulos, Kristen Brennand, Joseph D. Buxbaum and Elodie Drapeau

    Citation: Molecular Autism 2020 11:53

    Content type: Research

    Published on:

  8. Fragile X syndrome (FXS), a neurodevelopmental disorder, is a leading monogenetic cause of intellectual disability and autism spectrum disorder. Notwithstanding the extensive studies using rodent and other pre...

    Authors: Shreya Das Sharma, Rakhi Pal, Bharath Kumar Reddy, Bhuvaneish T. Selvaraj, Nisha Raj, Krishna Kumar Samaga, Durga J. Srinivasan, Loren Ornelas, Dhruv Sareen, Matthew R. Livesey, Gary J. Bassell, Clive N. Svendsen, Peter C. Kind, Siddharthan Chandran, Sumantra Chattarji and David J. A. Wyllie

    Citation: Molecular Autism 2020 11:52

    Content type: Research

    Published on:

  9. MBD5, encoding the methyl-CpG-binding domain 5 protein, has been proposed as a necessary and sufficient driver of the 2q23.1 microdeletion syndrome. De novo missense and protein-truncating variants from exome seq...

    Authors: Catarina M. Seabra, Tatsiana Aneichyk, Serkan Erdin, Derek J. C. Tai, Celine E. F. De Esch, Parisa Razaz, Yu An, Poornima Manavalan, Ashok Ragavendran, Alexei Stortchevoi, Clemer Abad, Juan I. Young, Patricia Maciel, Michael E. Talkowski and James F. Gusella

    Citation: Molecular Autism 2020 11:45

    Content type: Research

    Published on:

  10. PTEN, a syndromic autism spectrum disorder (ASD) risk gene, is mutated in approximately 10% of macrocephalic ASD cases. Despite the described genetic association between PTEN and ASD and ensuing studies, we conti...

    Authors: Shin Chung Kang, Ritika Jaini, Masahiro Hitomi, Hyunpil Lee, Nick Sarn, Stetson Thacker and Charis Eng

    Citation: Molecular Autism 2020 11:43

    Content type: Research

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  11. Patients diagnosed with chromosome microdeletions or duplications, known as copy number variants (CNVs), present a unique opportunity to investigate the relationship between patient genotype and cell phenotype...

    Authors: Danijela Drakulic, Srdjan Djurovic, Yasir Ahmed Syed, Sebastiano Trattaro, Nicolò Caporale, Anna Falk, Rivka Ofir, Vivi M. Heine, Samuel J. R. A. Chawner, Antonio Rodriguez-Moreno, Marianne B. M. van den Bree, Giuseppe Testa, Spyros Petrakis and Adrian J. Harwood

    Citation: Molecular Autism 2020 11:42

    Content type: Review

    Published on:

  12. FXS is the most common genetic cause of intellectual (ID) and autism spectrum disorders (ASD). FXS is caused by loss of FMRP, an RNA-binding protein involved in the translational regulation of a large number o...

    Authors: Kagistia Hana Utami, Nur Amirah Binte Mohammad Yusof, Jing Eugene Kwa, Ulla-Kaisa Peteri, Maija L. Castrén and Mahmoud A. Pouladi

    Citation: Molecular Autism 2020 11:41

    Content type: Research

    Published on:

  13. Rett syndrome (RTT) is a progressive neurodevelopmental disease that is characterized by abnormalities in cognitive, social, and motor skills. RTT is often caused by mutations in the X-linked gene encoding met...

    Authors: Suzy Varderidou-Minasian, Lisa Hinz, Dominique Hagemans, Danielle Posthuma, Maarten Altelaar and Vivi M. Heine

    Citation: Molecular Autism 2020 11:38

    Content type: Research

    Published on:

  14. Genetic factors contribute to the development of autism spectrum disorder (ASD), and although non-protein-coding regions of the genome are being increasingly implicated in ASD, the functional consequences of t...

    Authors: P. Joel Ross, Rebecca S. F. Mok, Brandon S. Smith, Deivid C. Rodrigues, Marat Mufteev, Stephen W. Scherer and James Ellis

    Citation: Molecular Autism 2020 11:33

    Content type: Review

    Published on:

  15. Proteomics is the large-scale study of the total protein content and their overall function within a cell through multiple facets of research. Advancements in proteomic methods have moved past the simple quant...

    Authors: Nadeem Murtaza, Jarryll Uy and Karun K. Singh

    Citation: Molecular Autism 2020 11:27

    Content type: Review

    Published on:

  16. Efforts to identify the causes of autism spectrum disorders have highlighted the importance of both genetics and environment, but the lack of human models for many of these disorders limits researchers’ attemp...

    Authors: Karina A. Kruth, Tierney M. Grisolano, Christopher A. Ahern and Aislinn J. Williams

    Citation: Molecular Autism 2020 11:23

    Content type: Review

    Published on:

  17. Autism spectrum disorders (ASD) are persistent conditions resulting from disrupted/altered neurodevelopment. ASD multifactorial etiology—and its numerous comorbid conditions—heightens the difficulty in identif...

    Authors: Federica Filice, Beat Schwaller, Tanja M. Michel and Edna Grünblatt

    Citation: Molecular Autism 2020 11:10

    Content type: Viewpoint

    Published on:

  18. Tuberous sclerosis complex (TSC) is a neurodevelopmental disorder with frequent occurrence of epilepsy, autism spectrum disorder (ASD), intellectual disability (ID), and tumors in multiple organs. The aberrant...

    Authors: Pauline Martin, Vilas Wagh, Surya A. Reis, Serkan Erdin, Roberta L. Beauchamp, Ghalib Shaikh, Michael Talkowski, Elizabeth Thiele, Steven D. Sheridan, Stephen J. Haggarty and Vijaya Ramesh

    Citation: Molecular Autism 2020 11:2

    Content type: Research

    Published on:

  19. Autism spectrum disorder (ASD) is a neurodevelopmental disorder with a high co-morbidity of epilepsy and associated with hundreds of rare risk factors. NRXN1 deletion is among the commonest rare genetic factors s...

    Authors: Sahar Avazzadeh, Katya McDonagh, Jamie Reilly, Yanqin Wang, Stephanie D. Boomkamp, Veronica McInerney, Janusz Krawczyk, Jacqueline Fitzgerald, Niamh Feerick, Matthew O’Sullivan, Amirhossein Jalali, Eva B. Forman, Sally A. Lynch, Sean Ennis, Nele Cosemans, Hilde Peeters…

    Citation: Molecular Autism 2019 10:52

    Content type: Research

    Published on:

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