The epilepsy-associated protein TBC1D24 is required for normal development, survival and vesicle trafficking in mammalian neurons-Reference-Cited by-同舟云学术

The epilepsy-associated protein TBC1D24 is required for normal development, survival and vesicle trafficking in mammalian neurons

Published:2018-10-17 Issue:4 Volume:28 Page:584-597
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Finelli Mattéa J¹,Aprile Davide²,Castroflorio Enrico³,Jeans Alexander⁴,Moschetta Matteo²³,Chessum Lauren⁵,Degiacomi Matteo T⁶,Grasegger Julia¹,Lupien-Meilleur Alexis⁷,Bassett Andrew⁸^ORCID,Rossignol Elsa⁷,Campeau Philippe M⁷,Bowl Michael R⁵,Benfenati Fabio³⁹,Fassio Anna²⁹,Oliver Peter L¹⁵

Affiliation:

1. Department of Physiology, Anatomy and Genetics, University of Oxford, Parks Road, Oxford, UK

2. Department of Experimental Medicine, University of Genoa, Genoa, Italy

3. Center of Synaptic Neuroscience and Technology, Istituto Italiano di Tecnologia, Largo Rosanna Benzi 9, Genoa, Italy

4. Department of Pharmacology, University of Oxford, Mansfield Road, Oxford, UK

5. MRC Harwell Institute, Harwell, Oxfordshire, UK

6. Department of Chemistry, Durham University, South Road, Durham, UK

7. CHU Ste-Justine, Departments of Neurosciences and Pediatrics, Université de Montréal, Montreal, QC, Canada

8. Cellular Operations, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridgeshire, UK

9. IRCCS Ospedale Policlinico San Martino, Largo Rosanna Benzi 10, Genoa, Italy

Funder

European Research Council Consolidator Award ‘PAROSIN’

Medical Research Council Programme Grant

University of Genoa

Compagnia di San Paolo

EU FP7 Integrating Project ‘Desire’

Fondazione CARIGE

Publisher

Oxford University Press (OUP)

Subject

Genetics(clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/28/4/584/27636589/ddy370.pdf

Reference48 articles.

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3. De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy;Saitsu;Nat. Genet.,2008

4. STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy;Stamberger;Neurology,2016

5. Identification of a mutation in synapsin I, a synaptic vesicle protein, in a family with epilepsy;Garcia;J. Med. Genet.,2004

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