Ontology highlight
ABSTRACT:
SUBMITTER: Gennarino VA
PROVIDER: S-EPMC5832058 | biostudies-literature | 2018 Feb
REPOSITORIES: biostudies-literature
Gennarino Vincenzo A VA Palmer Elizabeth E EE McDonell Laura M LM Wang Li L Adamski Carolyn J CJ Koire Amanda A See Lauren L Chen Chun-An CA Schaaf Christian P CP Rosenfeld Jill A JA Panzer Jessica A JA Moog Ute U Hao Shuang S Bye Ann A Kirk Edwin P EP Stankiewicz Pawel P Breman Amy M AM McBride Arran A Kandula Tejaswi T Dubbs Holly A HA Macintosh Rebecca R Cardamone Michael M Zhu Ying Y Ying Kevin K Dias Kerith-Rae KR Cho Megan T MT Henderson Lindsay B LB Baskin Berivan B Morris Paula P Tao Jiang J Cowley Mark J MJ Dinger Marcel E ME Roscioli Tony T Caluseriu Oana O Suchowersky Oksana O Sachdev Rani K RK Lichtarge Olivier O Tang Jianrong J Boycott Kym M KM Holder J Lloyd JL Zoghbi Huda Y HY
Cell 20180201 5
Certain mutations can cause proteins to accumulate in neurons, leading to neurodegeneration. We recently showed, however, that upregulation of a wild-type protein, Ataxin1, caused by haploinsufficiency of its repressor, the RNA-binding protein Pumilio1 (PUM1), also causes neurodegeneration in mice. We therefore searched for human patients with PUM1 mutations. We identified eleven individuals with either PUM1 deletions or de novo missense variants who suffer a developmental syndrome (Pumilio1-ass ...[more]