RRC ID 74958
Author Dragana J. Josifova, Glen R. Monroe, Federico Tessadori, Esther de Graaff, Bert van der Zwaag, Sarju G. Mehta, Magdalena Harakalova, Karen J. Duran, Sanne M.C. Savelberg, Isaäc J. Nijman, Heinz Jungbluth, Casper C. Hoogenraad, Jeroen Bakkers, Nine V. Knoers, Helen V. Firth, Philip L. Beales, Gijs van Haaften, Mieke M. van Haelst,
Title HeterozygousKIDINS220/ARMSnonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity
Journal Human Molecular Genetics
Volume 25
Pages 2158-2167
Published 2016-6-1
DOI 10.1093/hmg/ddw082
PMID 27005418
MeSH Alternative Splicing / genetics Animals Codon, Nonsense Disease Models, Animal Humans Intellectual Disability / genetics* Intellectual Disability / physiopathology Membrane Proteins / genetics* Nerve Tissue Proteins / genetics* Neurites / metabolism Neurites / pathology Neurogenesis / genetics Neurons / metabolism Neurons / pathology Nystagmus, Congenital / genetics* Nystagmus, Congenital / physiopathology Obesity / genetics* Obesity / pathology PC12 Cells Paraplegia / genetics* Paraplegia / physiopathology Protein Binding / genetics Rats Signal Transduction Zebrafish Proteins / genetics*
IF 5.101
Resource
Zebrafish pT2ZUASRFP