L. Pannone

发表

Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis

M. Loh, A. Carè, H. Cavé, 2014, Human molecular genetics.

Targeting Oncogenic Src Homology 2 Domain-Containing Phosphatase 2 (SHP2) by Inhibiting its Protein-Protein Interactions

F. Formaggio, M. Tartaglia, A. Bocedi, 2020, bioRxiv.

Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging.

E. Bertini, M. Karayiorgou, S. Lalani, 2019, American journal of human genetics.

SHP2's gain‐of‐function in Werner syndrome causes childhood disease onset likely resulting from negative genetic interaction

R. Carrozzo, B. Dallapiccola, M. Tartaglia, 2022, Clinical genetics.

A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function

Ivan K. Chinn, J. Lupski, R. Gibbs, 2019, The Journal of experimental medicine.

Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes.

Douglas P. Larsen, D. Nickerson, M. Bamshad, 2018, American journal of human genetics.

Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findings

M. Tartaglia, L. Ugga, C. Santoro, 2021, Clinical genetics.

Peptide-based Inhibitors of Protein-Protein Interactions of Src Homology 2 Domain-Containing Phosphatase 2

F. Formaggio, M. Tartaglia, A. Bocedi, 2020 .

Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum.

W. Chung, Q. Waisfisz, B. Gelb, 2020, American journal of human genetics.

Pathogenic PTPN11 variants involving the poly‐glutamine Gln255‐Gln256‐Gln257 stretch highlight the relevance of helix B in SHP2's functional regulation

M. Ryten, M. Tartaglia, M. Anselmi, 2020, Human mutation.

(SHP2) by Inhibiting its Protein-Protein Interactions

M. Tartaglia, A. Bocedi, S. Martinelli, 2020 .

Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome

Monia Magliozzi, Bruno Dallapiccola, Alessandro Sartorio, 2017, Human mutation.

Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations

M. Digilio, B. Gelb, B. Dallapiccola, 2015, Human mutation.

Biallelic mutations in the TOGARAM1 gene cause a novel primary ciliopathy

B. Dallapiccola, E. Agolini, E. Trevisson, 2020, Journal of Medical Genetics.

C. elegans-based chemosensation strategy for the early detection of cancer metabolites in urine samples

G. Ruocco, V. Folli, E. Milanetti, 2021, Scientific Reports.

Mutations at the C-terminus of CDC42 cause distinct hematopoietic and autoinflammatory disorders.

M. Tartaglia, F. Spadaro, S. Martinelli, 2022, The Journal of allergy and clinical immunology.

Co-occurring WARS2 and CHRNA6 mutations in a child with a severe form of infantile parkinsonism.

A. Bentivoglio, C. Limatola, R. Carrozzo, 2020, Parkinsonism & related disorders.

De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus.

Ellen F. Macnamara, E. Eklund, C. Toro, 2021, Brain : a journal of neurology.

A PTPN11 allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotype

B. Gelb, L. Edelmann, M. Tartaglia, 2014, American journal of medical genetics. Part A.

The recurrent pathogenic Pro890Leu substitution in CLTC causes a generalized defect in synaptic transmission in Caenorhabditis elegans

V. Folli, M. Tartaglia, S. Petrini, 2023, Frontiers in Molecular Neuroscience.

Co-occurring SYNJ1 and SHANK3 variants in a girl with intellectual disability, early-onset parkinsonism and catatonic episodes.

M. Tartaglia, V. Leuzzi, S. Martinelli, 2021, Parkinsonism & related disorders.

Compound heterozygosity for PTPN11 variants in a subject with Noonan syndrome provides insights into the mechanism of SHP2‐related disorders

E. Coto, M. Tartaglia, G. Bocchinfuso, 2020, Clinical genetics.

Peptide-based Inhibitors of Protein-Protein Interactions of Src Homology 2 Domain-Containing Phosphatase 2

F. Formaggio, M. Tartaglia, A. Bocedi, 2020 .

Targeting Oncogenic Src Homology 2 Domain-Containing Phosphatase 2 (SHP2) by Inhibiting Its Protein–Protein Interactions

F. Formaggio, M. Tartaglia, A. Bocedi, 2021, Journal of medicinal chemistry.

C16ORF70/MYTHO promotes healthy aging in C.elegans and prevents cellular senescence in mammals

E. Trevisson, Anais Franco-Romero, S. Salvioli, 2024, The Journal of clinical investigation.

Fluorescent Labeling Can Significantly Perturb Measured Binding Affinity and Selectivity of Peptide-Protein Interactions.

F. Formaggio, G. Bocchinfuso, S. Bobone, 2024, The journal of physical chemistry letters.