TY  - JOUR
AU  - Jachimowicz, Ron D
AU  - Beleggia, Filippo
AU  - Isensee, Jörg
AU  - Velpula, Bhagya Bhavana
AU  - Goergens, Jonas
AU  - Bustos, Matias A
AU  - Doll, Markus A
AU  - Shenoy, Anjana
AU  - Checa-Rodriguez, Cintia
AU  - Wiederstein, Janica Lea
AU  - Baranes-Bachar, Keren
AU  - Bartenhagen, Christoph
AU  - Hertwig, Falk
AU  - Teper, Nizan
AU  - Nishi, Tomohiko
AU  - Schmitt, Anna
AU  - Distelmaier, Felix
AU  - Lüdecke, Hermann-Josef
AU  - Albrecht, Beate
AU  - Krüger, Marcus
AU  - Schumacher, Björn
AU  - Geiger, Tamar
AU  - Hoon, Dave S B
AU  - Huertas, Pablo
AU  - Fischer, Matthias
AU  - Hucho, Tim
AU  - Peifer, Martin
AU  - Ziv, Yael
AU  - Reinhardt, H Christian
AU  - Wieczorek, Dagmar
AU  - Shiloh, Yosef
PY  - 2019
DO  - 10.1016/j.cell.2018.11.024
UR  - http://hdl.handle.net/10668/13378
T2  - Cell
AB  - Genomic instability can be a hallmark of both human genetic disease and cancer. We identify a deleterious UBQLN4 mutation in families with an autosomal recessive syndrome reminiscent of genome instability disorders. UBQLN4 deficiency leads to...
LA  - en
KW  - DNA damage
KW  - DNA double-strand break repair
KW  - UBQLN4 deficiency syndrome
KW  - cancer
KW  - genome instability syndrome
KW  - homologous recombination
KW  - non-homologous end joining
KW  - proteasomal degradation
KW  - targeted cancer therapy
KW  - ubiquitin
KW  - Carrier Proteins
KW  - Chromatin
KW  - DNA
KW  - DNA Breaks, Double-Stranded
KW  - DNA Damage
KW  - DNA End-Joining Repair
KW  - DNA-Binding Proteins
KW  - Female
KW  - Genomic Instability
KW  - Germ-Line Mutation
KW  - Homologous Recombination
KW  - Humans
KW  - MRE11 Homologue Protein
KW  - Male
KW  - Neoplasms
KW  - Nuclear Proteins
KW  - Primary Cell Culture
KW  - Recombinational DNA Repair
TI  - UBQLN4 Represses Homologous Recombination and Is Overexpressed in Aggressive Tumors.
TY  - research article
VL  - 176
ER  -