Mechanistic basis of an epistatic interaction reducing age at onset in hereditary spastic paraplegia-Reference-Cited by-同舟云学术

Mechanistic basis of an epistatic interaction reducing age at onset in hereditary spastic paraplegia

Published:2018-02-22 Issue:5 Volume:141 Page:1286-1299
ISSN:0006-8950
Container-title:Brain
language:en
Short-container-title:

Author:

Newton Timothy¹,Allison Rachel¹,Edgar James R²,Lumb Jennifer H¹,Rodger Catherine E¹,Manna Paul T²,Rizo Tania³,Kohl Zacharias⁴,Nygren Anders O H⁵,Arning Larissa⁶,Schüle Rebecca⁷⁸,Depienne Christel⁹¹⁰,Goldberg Lisa¹¹,Frahm Christiane¹²,Stevanin Giovanni⁹¹⁰¹³,Durr Alexandra⁹¹⁰,Schöls Ludger⁷⁸,Winner Beate⁴,Beetz Christian¹¹,Reid Evan¹^ORCID

Affiliation:

1. Department of Medical Genetics and Cambridge Institute for Medical Research, University of Cambridge, UK

2. Department of Clinical Biochemistry and Cambridge Institute for Medical Research, University of Cambridge, Cambridge CB2 0XY, UK

3. Department of Stem Cell Biology, Friedrich-Alexander University Erlangen-Nuernberg (FAU), Erlangen, Germany

4. Department of Molecular Neurology, Friedrich-Alexander University Erlangen-Nuernberg (FAU), Erlangen, Germany

5. MRC-Holland, Amsterdam, The Netherlands

6. Department of Human Genetics, Ruhr-University, Bochum, Germany

7. Center for Neurology and Hertie Institute for Clinical Brain Research, Eberhard-Karls-University, 72076 Tübingen, Germany

8. German Center of Neurodegenerative Diseases (DZNE), 72076 Tübingen, Germany

9. ICM Brain and Spine Institute, INSERM U1127, CNRS UMR7225, Sorbonne Universites, UPMC Univ Paris VI UMR_S1127, Paris, France

10. APHP, Genetic Department, Pitie-Salpêtrière University Hospital, Paris, France

11. Department of Clinical Chemistry and Laboratory Diagnostics, Jena University Hospital, Jena, Germany

12. Hans Berger Department of Neurology, Jena University Hospital, Jena, Germany

13. Ecole Pratique des Hautes Etudes, PSL Research University, Paris, France

Funder

MRC

Deutsche Forschungsgemeinschaft

NIH

Publisher

Oxford University Press (OUP)

Subject

Neurology (clinical)

Link

http://academic.oup.com/brain/article-pdf/141/5/1286/25083161/awy034.pdf

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3. An ESCRT-spastin interaction promotes fission of recycling tubules from the endosome;Allison;J Cell Biol,2013

4. High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia;Beetz;Neurology,2006

5. Activin/Nodal signaling and NANOG orchestrate human embryonic stem cell fate decisions by controlling the H3K4me3 chromatin mark;Bertero;Genes Dev,2015

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