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

Authors: Coppola, Simona, Insalaco, Antonella, Zara, Erika, Di Rocco, Martina, Marafon, Denise Pires, Spadaro, Francesca, Pannone, Luca, Farina, Luciapia, Pasquini, Luca, Martinelli, Simone, De Benedetti, Fabrizio, Tartaglia, Marco

Source: Journal of allergy and clinical immunology. 150(1):223-228

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100167227381.0x000001&indx=1&recIds=ETOCvdc_100167227381.0x000001

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

Authors: Priolo, Manuela, Palermo, Valentina, Aiello, Francesca, Ciolfi, Andrea, Pannone, Luca, Muto, Valentina, Motta, Marialetizia, Mancini, Cecilia, Radio, Francesca Clementina, Niceta, Marcello, Leoni, Chiara, Pintomalli, Letizia, Carrozzo, Rosalba, Rajola, Giuseppe, Mammì, Corrado, Zampino, Giuseppe, Martinelli, Simone, Dallapiccola, Bruno, Pichierri, Pietro, Tartaglia, Marco

Source: Clinical genetics. 102(1):12-21

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100153643614.0x000001&indx=1&recIds=ETOCvdc_100153643614.0x000001

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

Authors: D'Amico, Alessandra, Rosano, Carmen, Pannone, Luca, Pinna, Valentina, Assunto, Antonia, Motta, Marialetizia, Ugga, Lorenzo, Daniele, Paola, Mandile, Roberta, Mariniello, Lucio, Siano, Maria Anna, Santoro, Claudia, Piluso, Giulio, Martinelli, Simone, Strisciuglio, Pietro, De Luca, Alessandro, Tartaglia, Marco, Melis, Daniela

Source: Clinical genetics. 100(5):563-572

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100131839502.0x000001&indx=1&recIds=ETOCvdc_100131839502.0x000001

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

Authors: Lorca, Rebeca, Pannone, Luca, Cuesta‐Llavona, Elías, Bocchinfuso, Gianfranco, Rodríguez‐Reguero, Julian, Carpentieri, Giovanna, Hernando, Inés, Flex, Elisabetta, Tartaglia, Marco, Coto, Eliecer, Gómez, Juan, Martinelli, Simone

Source: Clinical genetics. 99(3):457-461

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100121107333.0x000001&indx=1&recIds=ETOCvdc_100121107333.0x000001

Gain of Function of Malate Dehydrogenase 2 and Familial Hyperglycemia

Authors: Jungtrakoon Thamtarana, Prapaporn, Marucci, Antonella, Pannone, Luca, Bonnefond, Amélie, Pezzilli, Serena, Biagini, Tommaso, Buranasupkajorn, Patinut, Hastings, Timothy, Mendonca, Christine, Marselli, Lorella, Di Paola, Rosa, Abubakar, Zuroida, Mercuri, Luana, Alberico, Federica, Flex, Elisabetta, Ceròn, Julian, Porta-de-la-Riva, Montserrat, Ludovico, Ornella, Carella, Massimo, Martinelli, Simone, Marchetti, Piero, Mazza, Tommaso, Froguel, Philippe, Trischitta, Vincenzo, Doria, Alessandro, Prudente, Sabrina

Source: Journal of clinical endocrinology & metabolism. 107(3):668-684

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100146875845.0x000001&indx=1&recIds=ETOCvdc_100146875845.0x000001

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

Authors: Motta, Marialetizia, Pannone, Luca, Pantaleoni, Francesca, Bocchinfuso, Gianfranco, Radio, Francesca Clementina, Cecchetti, Serena, Ciolfi, Andrea, Di Rocco, Martina, Elting, Mariet W., Brilstra, Eva H., Boni, Stefania, Mazzanti, Laura, Tamburrino, Federica, Walsh, Larry, Payne, Katelyn, Fernández-Jaén, Alberto, Ganapathi, Mythily, Chung, Wendy K., Grange, Dorothy K., Dave-Wala, Ashita, Reshmi, Shalini C., Bartholomew, Dennis W., Mouhlas, Danielle, Carpentieri, Giovanna, Bruselles, Alessandro, Pizzi, Simone, Bellacchio, Emanuele, Piceci-Sparascio, Francesca, Lißewski, Christina, Brinkmann, Julia, Waclaw, Ronald R., Waisfisz, Quinten, van Gassen, Koen, Wentzensen, Ingrid M., Morrow, Michelle M., Álvarez, Sara, Martínez-García, Mónica, De Luca, Alessandro, Memo, Luigi, Zampino, Giuseppe, Rossi, Cesare, Seri, Marco, Gelb, Bruce D., Zenker, Martin, Dallapiccola, Bruno, Stella, Lorenzo, Prada, Carlos E., Martinelli, Simone, Flex, Elisabetta, Tartaglia, Marco

Source: In The American Journal of Human Genetics 3 September 2020 107(3):499-513

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

Authors: Flex, Elisabetta, Martinelli, Simone, Van Dijck, Anke, Ciolfi, Andrea, Cecchetti, Serena, Coluzzi, Elisa, Pannone, Luca, Andreoli, Cristina, Radio, Francesca Clementina, Pizzi, Simone, Carpentieri, Giovanna, Bruselles, Alessandro, Catanzaro, Giuseppina, Pedace, Lucia, Miele, Evelina, Carcarino, Elena, Ge, Xiaoyan, Chijiwa, Chieko, Lewis, M.E. Suzanne, Meuwissen, Marije, Kenis, Sandra, Van der Aa, Nathalie, Larson, Austin, Brown, Kathleen, Wasserstein, Melissa P., Skotko, Brian G., Begtrup, Amber, Person, Richard, Karayiorgou, Maria, Roos, J. Louw, Van Gassen, Koen L., Koopmans, Marije, Bijlsma, Emilia K., Santen, Gijs W.E., Barge-Schaapveld, Daniela Q.C.M., Ruivenkamp, Claudia A.L., Hoffer, Mariette J.V., Lalani, Seema R., Streff, Haley, Craigen, William J., Graham, Brett H., van den Elzen, Annette P.M., Kamphuis, Daan J., Õunap, Katrin, Reinson, Karit, Pajusalu, Sander, Wojcik, Monica H., Viberti, Clara, Di Gaetano, Cornelia, Bertini, Enrico, Petrucci, Simona, De Luca, Alessandro, Rota, Rossella, Ferretti, Elisabetta, Matullo, Giuseppe, Dallapiccola, Bruno, Sgura, Antonella, Walkiewicz, Magdalena, Kooy, R. Frank, Tartaglia, Marco

Source: In The American Journal of Human Genetics 5 September 2019 105(3):493-508

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

Authors: Martinelli, Simone, Cordeddu, Viviana, Galosi, Serena, Lanzo, Ambra, Palma, Eleonora, Pannone, Luca, Ciolfi, Andrea, Di Nottia, Michela, Rizza, Teresa, Bocchinfuso, Gianfranco, Traversa, Alice, Caputo, Viviana, Farrotti, Andrea, Carducci, Claudia, Bernardini, Laura, Cogo, Susanna, Paglione, Maria, Venditti, Martina, Bentivoglio, Annarita, Ng, Joanne, Kurian, Manju A., Civiero, Laura, Greggio, Elisa, Stella, Lorenzo, Trettel, Flavia, Sciaccaluga, Miriam, Roseti, Cristina, Carrozzo, Rosalba, Fucile, Sergio, Limatola, Cristina, Di Schiavi, Elia, Tartaglia, Marco, Leuzzi, Vincenzo

Source: Parkinsonism & related disorders. 72:75-79

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100114058168.0x000001&indx=1&recIds=ETOCvdc_100114058168.0x000001

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

Authors: Martinelli, Simone, Pannone, Luca, Lissewski, Christina, Brinkmann, Julia, Flex, Elisabetta, Schanze, Denny, Calligari, Paolo, Anselmi, Massimiliano, Pantaleoni, Francesca, Canale, Viviana Claudia, Radio, Francesca Clementina, Ioannides, Adonis, Rahner, Nils, Schanze, Ina, Josifova, Dragana, Bocchinfuso, Gianfranco, Ryten, Mina, Stella, Lorenzo, Tartaglia, Marco, Zenker, Martin

Source: Human mutation. 41(6):1171-1182

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100107541032.0x000001&indx=1&recIds=ETOCvdc_100107541032.0x000001

Immunological and hematological findings as major features in a patient with a new germline pathogenic CBL variant.

Authors: Stellacci, Emilia¹, Carter, Jennefer N.^2,3, Pannone, Luca⁴, Stevenson, David^2,3, Moslehi, Dorsa², Venanzi, Serenella¹, Acosta, Maria T., Adams, David R., Afzali, Ben, Al‐Beshri, Ali, Allenspach, Eric, Allworth, Aimee, Alvarez, Raquel L., Alvey, Justin, Andrews, Ashley, Ashley, Euan A., Bacino, Carlos A., Bademci, Guney, Balasubramanyam, Ashok, Baldridge, Dustin

Source: American Journal of Medical Genetics. Part A; Aug2024, Vol. 194 Issue 8, p1-7, 7p

Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes

Authors: Martinelli, Simone, Krumbach, Oliver H.F., Pantaleoni, Francesca, Coppola, Simona, Amin, Ehsan, Pannone, Luca, Nouri, Kazem, Farina, Luciapia, Dvorsky, Radovan, Lepri, Francesca, Buchholzer, Marcel, Konopatzki, Raphael, Walsh, Laurence, Payne, Katelyn, Pierpont, Mary Ella, Vergano, Samantha Schrier, Langley, Katherine G., Larsen, Douglas, Farwell, Kelly D., Tang, Sha, Mroske, Cameron, Gallotta, Ivan, Di Schiavi, Elia, della Monica, Matteo, Lugli, Licia, Rossi, Cesare, Seri, Marco, Cocchi, Guido, Henderson, Lindsay, Baskin, Berivan, Alders, Mariëlle, Mendoza-Londono, Roberto, Dupuis, Lucie, Nickerson, Deborah A., Chong, Jessica X., Meeks, Naomi, Brown, Kathleen, Causey, Tahnee, Cho, Megan T., Demuth, Stephanie, Digilio, Maria Cristina, Gelb, Bruce D., Bamshad, Michael J., Zenker, Martin, Ahmadian, Mohammad Reza, Hennekam, Raoul C., Tartaglia, Marco, Mirzaa, Ghayda M.

Source: American journal of human genetics. 102(2):309-320

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100136072618.0x000001&indx=1&recIds=ETOCvdc_100136072618.0x000001

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

Authors: Pannone, Luca, Muto, Valentina, Nardecchia, Francesca, Di Rocco, Martina, Marchei, Emilia, Tosato, Federica, Petrini, Stefania, Onorato, Giada, Lanza, Enrico, Bertuccini, Lucia, Manti, Filippo, Folli, Viola, Galosi, Serena, Di Schiavi, Elia, Leuzzi, Vincenzo, Tartaglia, Marco, Martinelli, Simone

Source: Frontiers in Molecular Neuroscience; 2023, p1-14, 14p

Subject Terms: NEURAL transmission, CAENORHABDITIS elegans, SYNAPTIC vesicles, TRANSGENIC animals, COATED vesicles, EPILEPSY

Gain of Function of Malate Dehydrogenase 2 and Familial Hyperglycemia.

Authors: Thamtarana, Prapaporn Jungtrakoon, Marucci, Antonella, Pannone, Luca, Bonnefond, Amélie, Pezzilli, Serena, Biagini, Tommaso, Buranasupkajorn, Patinut, Hastings, Timothy, Mendonca, Christine, Marselli, Lorella, Di Paola, Rosa, Abubakar, Zuroida, Mercuri, Luana, Alberico, Federica, Flex, Elisabetta, Ceròn, Julian, Porta-de-la-Riva, Montserrat, Ludovico, Ornella, Carella, Massimo, Martinelli, Simone

Source: Journal of Clinical Endocrinology & Metabolism; Mar2022, Vol. 107 Issue 3, p668-684, 17p

Subject Terms: DEHYDROGENASES, HYPERGLYCEMIA

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

Authors: Bobone, Sara, Pannone, Luca, Biondi, Barbara, Solman, Maja, Flex, Elisabetta, Canale, Viviana Claudia, Calligari, Paolo, De Faveri, Chiara, Gandini, Tommaso, Quercioli, Andrea, Torini, Giuseppe, Venditti, Martina, Lauri, Antonella, Fasano, Giulia, Hoeksma, Jelmer, Santucci, Valerio, Cattani, Giada, Bocedi, Alessio, Carpentieri, Giovanna, Tirelli, Valentina

Source: Journal of Medicinal Chemistry; 11/11/2021, Vol. 64 Issue 21, p15973-15990, 18p

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

Authors: Lanza, Enrico, Di Rocco, Martina, Schwartz, Silvia, Caprini, Davide, Milanetti, Edoardo, Ferrarese, Giuseppe, Lonardo, Maria Teresa, Pannone, Luca, Ruocco, Giancarlo, Martinelli, Simone, Folli, Viola

Source: Scientific Reports; 11/1/2021, Vol. 11 Issue 1, p1-16, 16p

Subject Terms: EARLY detection of cancer, OLFACTORY receptors, SENSORY neurons, METABOLITES, BREAST cancer, CAENORHABDITIS elegans, CHEMOTAXIS

Biallelic mutations in the TOGARAM1 gene cause a novel primary ciliopathy.

Authors: Morbidoni, Valeria, Agolini, Emanuele, Slep, Kevin C., Pannone, Luca, Zuccarello, Daniela, Cassina, Matteo, Grosso, Enrico, Gai, Giorgia, Salviati, Leonardo, Dallapiccola, Bruno, Novelli, Antonio, Martinelli, Simone, Trevisson, Eva

Source: Journal of Medical Genetics; Aug2021, Vol. 58 Issue 8, p526-533, 8p

Gain of Function of Malate Dehydrogenase 2 and Familial Hyperglycemia

Authors: Jungtrakoon Thamtarana, Prapaporn, Marucci, Antonella, Pannone, Luca, Bonnefond, Amélie, Pezzilli, Serena, Biagini, Tommaso, Buranasupkajorn, Patinut, Hastings, Timothy, Mendonca, Christine, Marselli, Lorella, Di Paola, Rosa, Abubakar, Zuroida, Mercuri, Luana, Alberico, Federica, Flex, Elisabetta, Ceròn, Julian, Porta-de-la-Riva, Montserrat, Ludovico, Ornella, Carella, Massimo, Martinelli, Simone, Marchetti, Piero, Mazza, Tommaso, Froguel, Philippe, Trischitta, Vincenzo, Doria, Alessandro, Prudente, Sabrina

Source: The Journal of Clinical Endocrinology & Metabolism; March 2022, Vol. 107 Issue: 3 p668-684, 17p

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

Authors: Martinelli, Simone, Pannone, Luca, Lissewski, Christina, Brinkmann, Julia, Flex, Elisabetta, Schanze, Denny, Calligari, Paolo, Anselmi, Massimiliano, Pantaleoni, Francesca, Canale, Viviana Claudia, Radio, Francesca Clementina, Ioannides, Adonis, Rahner, Nils, Schanze, Ina, Josifova, Dragana, Bocchinfuso, Gianfranco, Ryten, Mina, Stella, Lorenzo, Tartaglia, Marco, Zenker, Martin

Source: Human Mutation; Jun2020, Vol. 41 Issue 6, p1171-1182, 12p

Biallelic mutations in the TOGARAM1gene cause a novel primary ciliopathy

Authors: Morbidoni, Valeria, Agolini, Emanuele, Slep, Kevin C, Pannone, Luca, Zuccarello, Daniela, Cassina, Matteo, Grosso, Enrico, Gai, Giorgia, Salviati, Leonardo, Dallapiccola, Bruno, Novelli, Antonio, Martinelli, Simone, Trevisson, Eva

Source: Journal of Medical Genetics (JMG); 2021, Vol. 58 Issue: 8 p526-533, 8p

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