GenomEast

Renaud M. et al.
Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: slowly progressive recessive ataxia
J Neurol. (2016) 263(8):1552-8
doi: 10.1007/s00415-016-8167-3

Haas G. et al.
Identification of factors involved in target RNA-directed microRNA degradation
Nucleic Acids Res. (2016) 44(6):2873-87
doi: 10.1093/nar/gkw040

Hardies K. et al.
Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline
Brain. (2016) 139(Pt 9):2420-30
doi: 10.1093/brain/aww180

Demais V. et al.
Reversal of Pathologic Lipid Accumulation in NPC1-Deficient Neurons by Drug-Promoted Release of LAMP1-Coated Lamellar Inclusions
J Neurosci. (2016) 36: 8012-25
doi: 10.1523/JNEUROSCI.0900-16.2016

Tabet R. et al.
Fragile X Mental Retardation Protein (FMRP) controls diacylglycerol kinase activity in neurons
Proc Natl Acad Sci USA. (2016) 113(26):E3619-28
doi: 10.1073/pnas.1522631113

Gallouet AS. et al.
Macrophage production and activation are dependent on TRIM33
Oncotarget. (2016) 8(3):5111-5122
doi: 10.18632/oncotarget.13872

Epanchintsev A. et al.
Cockayne's syndrome A and B proteins regulate transcription arrest after genotoxic stress by promoting ATF3 degradation.
Mol Cell (2017) Dec. 68(6):1054-1066 e6.
doi: 10.1016/j.molcel.2017.11.009

Kebede, AF. et al.
Histone propionylation is a mark of active chromatin.
Nat Struct Mol Biol. (2017) Dec. 24(12):1048-1056.
doi: 10.1038/nsmb.3490

Ennen, M. et al.
MITF-High and MITF-Low cells and a novel subpopulation expressing genes of both cell states contribute to intra- and intertumoral heterogeneity of Primary Melanoma.
Clin Cancer Res. (2017) Nov. 23(22): 7097-7107.
doi: 10.1158/1078-0432.CCR-17-0010

Ghoumid J. et al.
Blepharocheilodontic syndrome is a CDH1 pathway-related disorder due to mutations in CDH1 and CTNND1.
Genet Med. (2017) Sep.19(9):1013-1021.
doi: 10.1038/gim.2017.11