Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair

Viviana Cordeddu, Elia Di Schiavi, L Pennacchio, +28

Nature Genetics

Noonan-like SyndromeLoose Anagen HairGeneticsPathologyMolecular Genetics +1

Somatically acquired <i>JAK1</i> mutations in adult acute lymphoblastic leukemia

Elisabetta Flex, Valentina Petrangeli, Lorenzo Stella, +25

The Journal of Experimental Medicine

Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin

Hans Christian Hennies, Uwe Kornak, Haikuo Zhang, +23

Nature Genetics

BiologyGerodermia OsteodysplasticaSomatic VariantGenetic DisorderGenetics +6

Validation of Ultrasensitive Mutant Huntingtin Detection in Human Cerebrospinal Fluid by Single Molecule Counting Immunoassay

Valentina Fodale, Roberto Boggio, Manuel Daldin, +8

Journal of Huntington s Disease

Polyglutamine- and Temperature-Dependent Conformational Rigidity in Mutant Huntingtin Revealed by Immunoassays and Circular Dichroism Spectroscopy

Valentina Fodale, Natalie C. Kegulian, Margherita Verani, +15

PLoS ONE

Phosphoproteomic Analysis of Signaling Pathways in Head and Neck Squamous Cell Carcinoma Patient Samples

Mitchell J. Frederick, Amy J. VanMeter, Mayur A. Gadhikar, +15

American Journal Of Pathology

Signal TransductionSignaling PathwayCell SignalingPathologyProtein Phosphorylation +8

Widespread and sustained target engagement in Huntington’s disease minipigs upon intrastriatal microRNA-based gene therapy

Astrid Vallès, Melvin M. Evers, Anouk Stam, +19

Science Translational Medicine

Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome

Elisabetta Flex, Andrea Ciolfi, Viviana Caputo, +8

Journal of Medical Genetics

Quantifying autophagy using novel LC3B and p62 TR-FRET assays

Alberto Bresciani, Maria Carolina Spiezia, Roberto Boggio, +10

PLoS ONE

MitophagyAutophagic ResponsesCell DeathTr-fret AssaysAutophagy Changes +17

Polyglutamine expansion affects huntingtin conformation in multiple Huntington’s disease models

Manuel Daldin, Valentina Fodale, Cristina Cariulo, +18

Scientific Reports