Novel insights into SMALED2: BICD2 mutations increase microtubule stability and cause defects in axonal and NMJ development-Reference-Cited by-同舟云学术

Novel insights into SMALED2: BICD2 mutations increase microtubule stability and cause defects in axonal and NMJ development

Published:2018-03-08 Issue:10 Volume:27 Page:1772-1784
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Martinez Carrera Lilian A¹²³,Gabriel Elke³,Donohoe Colin D²⁴,Hölker Irmgard¹²³,Mariappan Aruljothi³,Storbeck Markus¹²³,Uhlirova Mirka²⁴,Gopalakrishnan Jay³,Wirth Brunhilde¹²³⁵

Affiliation:

1. Institute of Human Genetics, University of Cologne, 50931 Cologne, Germany

2. Institute for Genetics, University of Cologne, 50674 Cologne, Germany

3. Center for Molecular Medicine Cologne (CMMC), University of Cologne, 50931 Cologne, Germany

4. Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, 50931 Cologne, Germany

5. Center for Rare Diseases Cologne, University Hospital of Cologne, 50931 Cologne, Germany

Funder

Fritz Thyssen Stiftung

Publisher

Oxford University Press (OUP)

Subject

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

Link

http://academic.oup.com/hmg/article-pdf/27/10/1772/24715971/ddy086.pdf

Reference72 articles.

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2. Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia;Oates;Am. J. Hum. Genet,2013

3. Dominant spinal muscular atrophy due to BICD2: a novel mutation refines the phenotype;Synofzik;J. Neurol. Neurosurg. Psychiatry,2014

4. Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy;Neveling;Am. J. Hum. Genet,2013

5. A role for Bicaudal-D2 in radial cerebellar granule cell migration;Jaarsma;Nat. Commun,2014

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