RRC ID 74958
著者 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,
タイトル HeterozygousKIDINS220/ARMSnonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity
ジャーナル Human Molecular Genetics
巻・号 25
ページ 2158-2167
公開日 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
リソース情報
ゼブラフィッシュ pT2ZUASRFP