Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Stefania Di Costanzo"'
Autor:
David Acton, Xiangyu Ren, Stefania Di Costanzo, Antoine Dalet, Steeve Bourane, Ilaria Bertocchi, Carola Eva, Martyn Goulding
Publikováno v:
Cell Reports, Vol 28, Iss 3, Pp 625-639.e6 (2019)
Summary: Acute itch can be generated by either chemical or mechanical stimuli, which activate separate pathways in the periphery and spinal cord. While substantial progress has been made in mapping the transmission pathway for chemical itch, the cent
Externí odkaz:
https://doaj.org/article/8aa09d459bf04aad98df0a30ca129343
Autor:
M. Chiara Manzini, Lan Xiong, Ranad Shaheen, Dimira E. Tambunan, Stefania Di Costanzo, Vanessa Mitisalis, David J. Tischfield, Antonella Cinquino, Mohammed Ghaziuddin, Mehtab Christian, Qin Jiang, Sandra Laurent, Zohair A. Nanjiani, Saima Rasheed, R. Sean Hill, Sofia B. Lizarraga, Danielle Gleason, Diya Sabbagh, Mustafa A. Salih, Fowzan S. Alkuraya, Christopher A. Walsh
Publikováno v:
Cell Reports, Vol 8, Iss 3, Pp 647-655 (2014)
Autism spectrum disorder (ASD) and intellectual disability (ID) are often comorbid, but the extent to which they share common genetic causes remains controversial. Here, we present two autosomal-recessive “founder” mutations in the CC2D1A gene ca
Externí odkaz:
https://doaj.org/article/9cd4b10c06d8453cacf637629adde985
Autor:
Marito Hayashi, Miriam Gullo, Gokhan Senturk, Stefania Di Costanzo, Shinji C. Nagasaki, Ryoichiro Kageyama, Itaru Imayoshi, Martyn Goulding, Samuel L. Pfaff, Graziana Gatto
Publikováno v:
bioRxiv
Innate and goal-directed movements require a high-degree of trunk and appendicular muscle coordination to preserve body stability while ensuring the correct execution of the motor action. The spinal neural circuits underlying motor execution and post
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22efbdf050ca82c8fd92c892c8a90c84
https://europepmc.org/articles/PMC10055247/
https://europepmc.org/articles/PMC10055247/
Autor:
Steeve Bourane, Ilaria Bertocchi, Martyn Goulding, David Acton, Carola Eva, Antoine Dalet, Stefania Di Costanzo, Xiangyu Ren
Publikováno v:
Cell Reports, Vol 28, Iss 3, Pp 625-639.e6 (2019)
Cell reports
Cell reports
SUMMARY Acute itch can be generated by either chemical or mechanical stimuli, which activate separate pathways in the periphery and spinal cord. While substantial progress has been made in mapping the transmission pathway for chemical itch, the centr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::58ca9d3f59f36604325ebfe13fa6643f
http://www.sciencedirect.com/science/article/pii/S2211124719307995
http://www.sciencedirect.com/science/article/pii/S2211124719307995
Autor:
Priyabrata Halder, Peter K. Fenton, Graziana Gatto, Steeve Bourane, Rebecca P. Seal, Martyn Goulding, Stefania Di Costanzo, Xiangyu Ren
Publikováno v:
Neuron
Cutaneous somatosensory modalities play pivotal roles in generating a wide range of sensorimotor behaviors, including protective and corrective reflexes that dynamically adapt ongoing movement and posture. How interneurons (INs) in the dorsal horn en
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a6c306825d45b6504d5e61bce0f3583
https://doi.org/10.1016/j.neuron.2020.10.003
https://doi.org/10.1016/j.neuron.2020.10.003
Autor:
Heather L. Pond, Christopher A. Walsh, Jeff Lin, Emanuela Santini, Mark W. Johnson, Eric Klann, Marta Zamarbide, Dilenny M. Gonzalez, Jessica F. Boehler, Guangying K. Wu, M. Chiara Manzini, Adam W. Oaks, Dimira E. Tambunan, Stefania Di Costanzo
Publikováno v:
Cerebral Cortex. 27:1670-1685
Loss-of-function (LOF) mutations in CC2D1A cause a spectrum of neurodevelopmental disorders, including intellectual disability, autism spectrum disorder, and seizures, identifying a critical role for this gene in cognitive and social development. CC2
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b21e68bc4515fece8b54173b4123f28
https://doi.org/10.1093/cercor/bhw009
https://doi.org/10.1093/cercor/bhw009
Autor:
Andrea Ballabio, Cristina Quintavalle, Stefania Di Costanzo, Immaculada Tasset, Gerolama Condorelli, Peppino Mirabelli, Ana Maria Cuervo, Ciro Zanca, Alessandro Fraldi, Mariarosaria Incoronato, Maria Chiara Monti, Piero Pucci
Publikováno v:
Journal of Cellular Physiology. 229:1359-1368
PED, known also as PED/PEA-15, is a Death Effector Domain (DED)-family member of 15 kDa having a variety of effects on cell growth and metabolism [1,2]. PED has a broad anti-apoptotic action, being able to inhibit both the intrinsic and the extrinsic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4d8218d5ff81a1c4e4bbc66ef168768c
https://doi.org/10.1002/jcp.24569
https://doi.org/10.1002/jcp.24569
Autor:
Anuradha Balasubramanian, Chiara Pantaleoni, Marina Mora, Peter B. Kang, M. Chiara Manzini, Mustafa A. Salih, Christine M. Sunu, Stefania Di Costanzo, Anete Rozkalne, Heather L. Pond, Emanuela Gussoni, Christopher A. Walsh, Timothy W. Yu, Vandana Gupta, Simona Saredi
Publikováno v:
Human Molecular Genetics. 23:5781-5792
Dystroglycan is a transmembrane glycoprotein whose interactions with the extracellular matrix (ECM) are necessary for normal muscle and brain development, and disruptions of its function lead to dystroglycanopathies, a group of congenital muscular dy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca2a3ab5db7f74233828b78202d7b5af
https://doi.org/10.1093/hmg/ddu296
https://doi.org/10.1093/hmg/ddu296
Autor:
Clifford J. Woolf, James Nemesh, Sebastian Thams, Morgan L. Maeder, Derek H. Oakley, Steven A. McCarroll, Florian T. Merkle, Michael J. Ziller, Robert H. Brown, Kevin Eggan, Gabriella L. Boulting, Brian J. Wainger, Steve S.W. Han, Justin K. Ichida, Luis A. Williams, Rob Moccia, Nick Atwater, Jackson Sandoe, Robert E. Handsaker, Theodore Peng, Shravani Mikkilineni, Evangelos Kiskinis, J. Keith Joung, Scott Noggle, Daniel Paull, Cassidy Mellin, Mathew J. Goodwin, Stefania Di Costanzo, Brandi N. Davis-Dusenbery
Publikováno v:
Cell Stem Cell. 14(6)
SummaryAlthough many distinct mutations in a variety of genes are known to cause Amyotrophic Lateral Sclerosis (ALS), it remains poorly understood how they selectively impact motor neuron biology and whether they converge on common pathways to cause
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c1710fff143040cc89fd5f6273fcdd9
Autor:
Gerolama Condorelli, Piero Pucci, Flora Cozzolino, Margherita Santoriello, Cristina Quintavalle, Lucia Ricci-Vitiani, Stefania Di Costanzo, Ciro Zanca, Maria Chiara Monti
PED (phosphoprotein enriched in diabetes) is a 15 kDa protein involved in many cellular pathways and human diseases including type II diabetes and cancer. We recently reported that PED is overexpressed in human cancers and mediates resistance to indu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::535917f5ade612fdb3963dfd37040fea
http://hdl.handle.net/11588/407238
http://hdl.handle.net/11588/407238