Archives Publications

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

Guarani V. et al.
QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease
Elife. (2016) 5. pii: e17163
doi: 10.7554

Santamaría Nuñez G.et al.
Lurbinectedin Specifically Triggers the Degradation of Phosphorylated RNA Polymerase II and the Formation of DNA Breaks in Cancer Cells
Mol Cancer Ther. (2016) 15(10):2399-2412
doi:

Schaefer E. et al.
Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome
J Hum Genet. (2016) 61(5):447-50
doi: 10.1038/jhg.2015.162

Steed E. et al.
klf2a couples mechanotransduction and zebrafish valve morphogenesis through fibronectin synthesis
Nat Commun. (2016) 7:11646
doi: 10.1038/ncomms11646

Malysheva V. et al.
Reconstruction of gene regulatory networks reveals chromatin remodelers and key transcription factors in tumorigenesis
Genome Med. (2016) May 19.8(1):57
doi: 10.1186/s13073-016-0310-3

Martianov I. et al.
TRF2 is recruited to the pre-initiation complex as a testis-specific subunit of TFIIA/ALF to promote haploid cell gene expression
Sci Rep. (2016) 6:32069
doi: 10.1038/srep32069

Freyermuth F. et al.
Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophy
Nat Commun. (2016) 7: 11067
doi: 10.1038/ncomms11067

Bandiera S. et al.
HCV-induced up-regulation of miR-146a-5p in hepatocytes promotes viral infection and deregulates metabolic pathways associated with liver disease pathogenesis
J Virol (2016) 90(14):6387-400
doi: 10.1128/JVI.00619-16

Helwi P. et al.
Vine nitrogen status and volatile thiols and their precursors from plot to transcriptome level
BMC Plant Biol . (2016) 16: 173
doi: 10.1186/s12870-016-0836-y