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Single cell analysi...
Single cell analysis of autism patient with bi-allelic NRXN1-alpha deletion reveals skewed fate choice in neural progenitors and impaired neuronal functionality
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- Lam, Matti (author)
- Karolinska Inst, Dept Neurosci, Stockholm, Sweden
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- Moslem, Mohsen (author)
- Karolinska Institutet
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- Bryois, Julien (author)
- Karolinska Institutet
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- Pronk, Robin J. (author)
- Karolinska Institutet
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- Uhlin, Elias (author)
- Karolinska Institutet
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- Ellström, Ivar Dehnisch (author)
- Karolinska Inst, Dept Med Biochem & Biophys, Stockholm, Sweden
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- Laan, Loora (author)
- Uppsala universitet,Medicinsk genetik och genomik,Science for Life Laboratory, SciLifeLab
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- Olive, Jessica (author)
- Karolinska Inst, Dept Neurosci, Stockholm, Sweden
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- Morse, Rebecca (author)
- Karolinska Inst, Dept Neurosci, Stockholm, Sweden
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- Rönnholm, Harriet (author)
- Karolinska Inst, Dept Neurosci, Stockholm, Sweden
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- Louhivuori, Lauri (author)
- Karolinska Inst, Dept Med Biochem & Biophys, Stockholm, Sweden
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- Korol, Sergiy V. (author)
- Uppsala universitet,Birnir: Molekylär fysiologi och neurovetenskap
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- Dahl, Niklas (author)
- Uppsala universitet,Science for Life Laboratory, SciLifeLab,Medicinsk genetik och genomik
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- Uhlén, Per (author)
- Karolinska Institutet
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- Anderlid, Britt-Marie (author)
- Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden
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- Kele, Malin (author)
- Karolinska Inst, Dept Neurosci, Stockholm, Sweden
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- Sullivan, Patrick F. (author)
- Karolinska Institutet
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- Falk, Anna (author)
- Karolinska Institutet
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(creator_code:org_t)
- Elsevier BV, 2019
- 2019
- English.
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In: Experimental Cell Research. - : Elsevier BV. - 0014-4827 .- 1090-2422. ; 383:1
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Abstract
Subject headings
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- We generated human iPS derived neural stem cells and differentiated cells from healthy control individuals and an individual with autism spectrum disorder carrying bi-allelic NRXN1-alpha deletion. We investigated the expression of NRXN1-alpha during neural induction and neural differentiation and observed a pivotal role for NRXN1-alpha during early neural induction and neuronal differentiation. Single cell RNA-seq pinpointed neural stem cells carrying NRXN1-alpha deletion shifting towards radial glia-like cell identity and revealed higher proportion of differentiated astroglia. Furthermore, neuronal cells carrying NRXN1-alpha deletion were identified as immature by single cell RNA-seq analysis, displayed significant depression in calcium signaling activity and presented impaired maturation action potential profile in neurons investigated with electrophysiology. Our observations propose NRXN1-alpha plays an important role for the efficient establishment of neural stem cells, in neuronal differentiation and in maturation of functional excitatory neuronal cells.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Neurovetenskaper (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Neurosciences (hsv//eng)
Keyword
- Autism spectrum disorder
- Neurexin
- Neurexin-1 alpha
- Induced pluripotent stem cell
- Neural stem cell
- Single cell RNA sequencing
- Neural development
- Disease modeling
Publication and Content Type
- ref (subject category)
- art (subject category)
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To the university's database
- By the author/editor
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Lam, Matti
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Moslem, Mohsen
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Bryois, Julien
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Pronk, Robin J.
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Uhlin, Elias
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Ellström, Ivar D ...
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show more...
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Laan, Loora
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Olive, Jessica
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Morse, Rebecca
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Rönnholm, Harrie ...
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Louhivuori, Laur ...
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Korol, Sergiy V.
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Dahl, Niklas
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Uhlén, Per
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Anderlid, Britt- ...
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Kele, Malin
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Sullivan, Patric ...
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Falk, Anna
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Neurosciences
- Articles in the publication
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Experimental Cel ...
- By the university
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Uppsala University
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Karolinska Institutet