Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly

Chai, G, Webb, A, Li, C et al. (34 more authors) (2021) Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly. Neuron, 109 (2). pp. 241-256. ISSN 0896-6273

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Authors/Creators:
Copyright, Publisher and Additional Information: © 2020 Elsevier Inc. This is an author produced version of an article published in Neuron. Uploaded in accordance with the publisher's self-archiving policy.
Keywords: pontocerebellar hypoplasia; microcephaly; neurodegeneration; brain development; spliceosome; cyclophilin; proline isomerase; alternative splicing; PCHM; PPIL1; PRP17; NMR; recessive disease
Dates:
  • Published: 20 January 2021
  • Accepted: 30 October 2020
  • Published (online): 20 November 2020
Institution: The University of Leeds
Academic Units: The University of Leeds > Faculty of Biological Sciences (Leeds) > School of Molecular and Cellular Biology (Leeds) > Biological Chemistry (Leeds)
The University of Leeds > Faculty of Biological Sciences (Leeds) > School of Molecular and Cellular Biology (Leeds) > NMR (Leeds)
Funding Information:
FunderGrant number
Jules Thorn Charitable TrustNOT GIVEN
MRC (Medical Research Council)MR/K011154/1
Depositing User: Symplectic Publications
Date Deposited: 30 Nov 2020 12:21
Last Modified: 20 Nov 2021 01:38
Status: Published online
Publisher: Elsevier (Cell Press)
Identification Number: https://doi.org/10.1016/j.neuron.2020.10.035
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