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P

Pietro Fratta

queen square institute of neurology
H指数:18
被引数:2,683

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Brain-derived neurotrophic factor coordinates neuron-intrinsic programs to enhance axonal regeneration in human motor neurons

脑源性神经营养因子协调神经元内在程序以增强人运动神经元的轴突再生

Science Signaling
IF6.6
2026-04-140
PRE
Jose Norberto S. Vargas; Anna-Leigh Brown; Kai Sun; Cathleen Hagemann; Bethany Geary; David Villarroel-Campos; Sam Bryce-Smith; Matteo Zanovello; Madeline Lombardo; Stan Majewski; Andrew Tosolini; Maria Secrier; Matthew J. Keuss; Andrea Serio; James N. Sleigh; Pietro Fratta; Giampietro Schiavo
TDP-43-dependent mis-splicing of KCNQ2 triggers intrinsic neuronal hyperexcitability in ALS/FTD

TDP-43依赖性的KCNQ2错位剪接在ALS/FTD中触发内在神经元过度兴奋

Nature Neuroscience
IF20
2025-10-310
OAAI
Brian J. Joseph; Kelly A. Marshall; Peter Harley; Jacob R. Mann; Francesco Alessandrini; Carlos G. Vanoye; Wanhao Chi; Mercedes Prudencio; Dina Simkin; Tzu-Ting Kao; Reshma R. Desai; Matthew J. Keuss; Simone Barattucci; Matteo Zanovello; Puja R. Mehta; Jean-Marc DeKeyser; Francesco Limone; Jonathan Lee; Anna-Leigh Brown; Marcel F. Leyton-Jaimes; Leslie A. Nash; Irune Guerra San Juan; Eleonora Aronica; Brian J. Wainger; Mala Shah; Anand Goswami; Neil A. Shneider; Dennis W. Dickson; Juan Burrone; Chaolin Zhang; Hynek Wichterle; Leonard Petrucelli; Jonathan K. Watts; Alfred L. George; Pietro Fratta; Kevin Eggan; Evangelos Kiskinis
TDP-43 loss induces cryptic polyadenylation in ALS/FTD

TDP-43丢失诱导ALS/FTD中隐藏的聚腺苷酸化

Nature Neuroscience
IF20
2025-10-210
OAAI
Sam Bryce-Smith; Anna-Leigh Brown; Max Z. Y. J. Chien; Dario Dattilo; Puja R. Mehta; Francesca Mattedi; Simone Barattucci; Alla Mikheenko; Matteo Zanovello; Flaminia Pellegrini; Sara Emad El-Agamy; Matthew Yome; Sarah E. Hill; Yue A. Qi; Kai Sun; Eugeni Ryadnov; Yixuan Wan; Jose Norberto S. Vargas; Nicol Birsa; Towfique Raj; Jack Humphrey; Matthew Keuss; Oscar G. Wilkins; Michael Ward; Maria Secrier; Pietro Fratta
Increased frequency of repeat expansion mutations across different populations

不同人群重复扩增突变的频率增加

NATURE MEDICINE
IF50
2024-10-013
OAAI
Ibanez, Kristina; Jadhav, Bharati; Zanovello, Matteo; Gagliardi, Delia; Clarkson, Christopher; Facchini, Stefano; Garg, Paras; Martin-Trujillo, Alejandro; Gies, Scott J.; Deforie, Valentina Galassi; Dalmia, Anupriya; Moss, Davina J. Hensman; Vandrovcova, Jana; Rocca, Clarissa; Moutsianas, Loukas; Marini-Bettolo, Chiara; Walker, Helen; Turner, Chris; Shoai, Maryam; Long, Jeffrey D.; Fratta, Pietro; Langbehn, Douglas R.; Tabrizi, Sarah J.; Caulfield, Mark J.; Cortese, Andrea; Escott-Price, Valentina; Hardy, John; Houlden, Henry; Sharp, Andrew J.; Tucci, Arianna
RNA aptamer reveals nuclear TDP-43 pathology is an early aggregation event that coincides with STMN-2 cryptic splicing and precedes clinical manifestation in ALS

RNA适体揭示核TDP-43病理学是早期的聚集事件，与STMN-2的隐性剪接相吻合，并在ALS的临床表现之前

ACTA NEUROPATHOLOGICA
IF9.3
2024-03-053
OA
Spence, Holly; Waldron, Fergal M.; Saleeb, Rebecca S.; Brown, Anna-Leigh; Rifai, Olivia M.; Gilodi, Martina; Read, Fiona; Roberts, Kristine; Milne, Gillian; Wilkinson, Debbie; O'Shaughnessy, Judi; Pastore, Annalisa; Fratta, Pietro; Shneider, Neil; Tartaglia, Gian Gaetano; Zacco, Elsa; Horrocks, Mathew H.; Gregory, Jenna M.
PolyGR and polyPR knock-in mice reveal a conserved neuroprotective extracellular matrix signature in C9orf72 ALS/FTD neurons
Nature Neuroscience
IF20
2024-02-290
OAAI
Carmelo Milioto; Mireia Carcolé; Ashling Giblin; Rachel Coneys; Olivia Attrebi; Mhoriam Ahmed; Samuel S. Harris; Byung Il Lee; Mengke Yang; Robert A. Ellingford; Raja S. Nirujogi; Daniel Biggs; Sally Salomonsson; Matteo Zanovello; Paula de Oliveira; Eszter Katona; Idoia Glaria; Alla Mikheenko; Bethany Geary; Evan Udine; Deniz Vaizoglu; Sharifah Anoar; Khrisha Jotangiya; Gerard Crowley; Demelza M. Smeeth; Mirjam L. Adams; Teresa Niccoli; Rosa Rademakers; Marka van Blitterswijk; Anny Devoy; Soyon Hong; Linda Partridge; Alyssa N. Coyne; Pietro Fratta; Dario R. Alessi; Ben Davies; Marc Aurel Busche; Linda Greensmith; Elizabeth M. C. Fisher; Adrian M. Isaacs
Mis-spliced transcripts generate de novo proteins in TDP-43-related ALS/FTD

错误剪接的转录本在TDP-43-related ALS/FTD中产生新生蛋白

SCIENCE TRANSLATIONAL MEDICINE
IF14.6
2024-02-1420
OA
Seddighi, Sahba; Qi, Yue A.; Brown, Anna-Leigh; Wilkins, Oscar G.; Bereda, Colleen; Belair, Cedric; Zhang, Yong-Jie; Prudencio, Mercedes; Keuss, Matthew J.; Khandeshi, Aditya; Pickles, Sarah; Kargbo-Hill, Sarah E.; Hawrot, James; Ramos, Daniel M.; Yuan, Hebao; Roberts, Jessica; Sacramento, Erika Kelmer; Shah, Syed I.; Nalls, Mike A.; Colon-Mercado, Jennifer M.; Reyes, Joel F.; Ryan, Veronica H.; Nelson, Matthew P.; Cook, Casey N.; Li, Ziyi; Screven, Laurel; Kwan, Justin Y.; Mehta, Puja R.; Zanovello, Matteo; Hallegger, Martina; Shantaraman, Anantharaman; Ping, Lingyan; Koike, Yuka; Oskarsson, Bjorn; Staff, Nathan P.; Duong, Duc M.; Ahmed, Aisha; Secrier, Maria; Ule, Jernej; Jacobson, Steven; Reich, Daniel S.; Rohrer, Jonathan D.; Malaspina, Andrea; Dickson, Dennis W.; Glass, Jonathan D.; Ori, Alessandro; Seyfried, Nicholas T.; Maragkakis, Manolis; Petrucelli, Leonard; Fratta, Pietro; Ward, Michael E.
TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A
Nature
IF48.5
2022-01-010
OAAI
Anna‐Leigh Brown; Oscar G. Wilkins; Matthew J. Keuss; Sarah E. Kargbo-Hill; Matteo Zanovello; Weaverly Colleen Lee; Alexander Bampton; Flora C. Y. Lee; Laura Masino; Yue Andy Qi; Sam Bryce-Smith; Ariana P. Gatt; Martina Hallegger; Delphine Fagegaltier; Hemali P. Phatnani; Hemali P. Phatnani; Justin Y. Kwan; Dhruv Sareen; James Riley Broach; Zachary Simmons; Ximena Arcila-Londono; Edward B. Lee; Vivianna M. Van Deerlin; Neil A. Shneider; Ernest Fraenkel; Lyle W. Ostrow; Frank Baas; Noah Zaitlen; James D. Berry; Andrea Malaspina; Pietro Fratta; Gregory A. Cox; Leslie Michels Thompson; Steven M. Finkbeiner; Efthimios Dardiotis; Timothy M. Miller; Siddharthan Chandran; Suvankar Pal; Eran Hornstein; Daniel J. L. MacGowan; Terry D Heiman-Patterson; Molly Hammell; Nikolaos A. Patsopoulos; Oleg Butovsky; Josh Dubnau; Avindra Nath; Robert P. Bowser; Matthew B. Harms; Eleonora Aronica; Mary L. Poss; Jennifer E. Phillips‐Cremins; John F. Crary; Nazem Atassi; Dale J. Lange; Darius J. Adams; Leonidas Stefanis; Marc Gotkine; Robert H. Baloh; Suma Babu; Towfique Raj; Sabrina Paganoni; Ophir Shalem; Colin Smith; Bin Zhang; Brent T. Harris; Iris Broce; Vivian E. Drory; John Ravits; Corey T. McMillan; Vilas Menon; Lani F. Wu; Steven J. Altschuler; Yossef Lerner; Rita Sattler; Kendall R. Van Keuren‐Jensen; Orit Rozenblatt–Rosen; Kerstin Lindblad‐Toh; Katharine A. Nicholson; Peter K. Gregersen; Jeong‐Ho Lee; Sulev Kõks; Stephen Muljo; Jia Newcombe; Emil Karl Gustavsson; Sahba Seddighi; Joel F. Reyes; Steven L. Coon; Daniel M. Ramos; Giampietro Schiavo; Elizabeth Fisher; Towfique Raj; Maria Secrier; Tammaryn Lashley; Jernej Ule; Emanuele Buratti; Jack Humphrey; Michael Emmerson Ward; Pietro Fratta
Mice with endogenous TDP-43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosis
EMBO JOURNAL
IF8.3
2018-05-15118
OAAI
Fratta, Pietro; Sivakumar, Prasanth; Humphrey, Jack; Lo, Kitty; Ricketts, Thomas; Oliveira, Hugo; Brito-Armas, Jose M.; Kalmar, Bernadett; Ule, Agnieszka; Yu, Yichao; Birsa, Nicol; Bodo, Cristian; Collins, Toby; Conicella, Alexander E.; Maza, Alan Mejia; Marrero-Gagliardi, Alessandro; Stewart, Michelle; Mianne, Joffrey; Corrochano, Silvia; Emmett, Warren; Codner, Gemma; Groves, Michael; Fukumura, Ryutaro; Gondo, Yoichi; Lythgoe, Mark; Pauws, Erwin; Peskett, Emma; Stanier, Philip; Teboul, Lydia; Hallegger, Martina; Calvo, Andrea; Chio, Adriano; Isaacs, Adrian M.; Fawzi, Nicolas L.; Wang, Eric; Housman, David E.; Baralle, Francisco; Greensmith, Linda; Buratti, Emanuele; Plagnol, Vincent; Fisher, Elizabeth M. C.; Acevedo-Arozena, Abraham
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

全基因组分析鉴定KIF5A是一个新的ALS基因

NEURON
IF15
2018-03-01486
OAAI
Nicolas, Aude; Kenna, Kevin P.; Renton, Alan E.; Ticozzi, Nicola; Faghri, Faraz; Chia, Ruth; Dominov, Janice A.; Kenna, Brendan J.; Nalls, Mike A.; Keagle, Pamela; Rivera, Alberto M.; van Rheenen, Wouter; Murphy, Natalie A.; van Vugt, Joke J. F. A.; Geiger, Joshua T.; van der Spek, Rick A.; Pliner, Hannah A.; Shankaracharya; Smith, Bradley N.; Marangi, Giuseppe; Topp, Simon D.; Abramzon, Yevgeniya; Gkazi, Athina Soragia; Eicher, John D.; Kenna, Aoife; Mora, Gabriele; Calvo, Andrea; Mazzini, Letizia; Riva, Nilo; Mandrioli, Jessica; Caponnetto, Claudia; Battistini, Stefania; Volanti, Paolo; La Bella, Vincenzo; Conforti, Francesca L.; Borghero, Giuseppe; Messina, Sonia; Simone, Isabella L.; Trojsi, Francesca; Salvi, Fabrizio; Logullo, Francesco O.; D'Alfonso, Sandra; Corrado, Lucia; Capasso, Margherita; Ferrucci, Luigi; Moreno, Cristiane de Araujo Martins; Kamalakaran, Sitharthan; Goldstein, David B.; Gitler, Aaron D.; Harris, Tim; Myers, Richard M.; Phatnani, Hemali; Musunuri, Rajeeva Lochan; Evani, Uday Shankar; Abhyankar, Avinash; Zody, Michael C.; Kaye, Julia; Finkbeiner, Steven; Wyman, Stacia K.; LeNail, Alex; Lima, Leandro; Fraenkel, Ernest; Svendsen, Clive N.; Thompson, Leslie M.; Van Eyk, Jennifer E.; Berry, James D.; Miller, Timothy M.; Kolb, Stephen J.; Cudkowicz, Merit; Baxi, Emily; Benatar, Michael; Taylor, J. Paul; Rampersaud, Evadnie; Wu, Gang; Wuu, Joanne; Lauria, Giuseppe; Verde, Federico; Fogh, Isabella; Tiloca, Cinzia; Comi, Giacomo P.; Soraru, Gianni; Cereda, Cristina; Corcia, Philippe; Laaksovirta, Hannu; Myllykangas, Liisa; Jansson, Lilja; Valori, Miko; Ealing, John; Hamdalla, Hisham; Rollinson, Sara; Pickering-Brown, Stuart; Orrell, Richard W.; Sidle, Katie C.; Malaspina, Andrea; Hardy, John; Singleton, Andrew B.; Johnson, Janel O.; Arepalli, Sampath; Sapp, Peter C.; McKenna-Yasek, Diane; Polak, Meraida; Asress, Seneshaw; Al-Sarraj, Safa; King, Andrew; Troakes, Claire; Vance, Caroline; de Belleroche, Jacqueline; Baas, Frank; ten Asbroek, Anneloor L. M. A.; Luis Munoz-Blanco, Jose; Hernandez, Dena G.; Ding, Jinhui; Gibbs, J. Raphael; Scholz, Sonja W.; Floeter, Mary Kay; Campbell, Roy H.; Landi, Francesco; Bowser, Robert; Pulst, Stefan M.; Ravits, John M.; MacGowan, Daniel J. L.; Kirby, Janine; Pioro, Erik P.; Pamphlett, Roger; Broach, James; Gerhard, Glenn; Dunckley, Travis L.; Brady, Christopher B.; Kowall, Neil W.; Troncoso, Juan C.; Le Ber, Isabelle; Mouzat, Kevin; Lumbroso, Serge; Heiman-Patterson, Terry D.; Kamel, Freya; Van Den Bosch, Ludo; Baloh, Robert H.; Strom, Tim M.; Meitinger, Thomas; Shatunov, Aleksey; Van Eijk, Kristel R.; de Carvalho, Mamede; Kooyman, Maarten; Middelkoop, Bas; Moisse, Matthieu; McLaughlin, Russell L.; Van Es, Michael A.; Weber, Markus; Boylan, Kevin B.; Van Blitterswijk, Marka; Rademakers, Rosa; Morrison, Karen E.; Basak, A. Nazli; Mora, Jesus S.; Drory, Vivian E.; Shaw, Pamela J.; Turner, Martin R.; Talbot, Kevin; Hardiman, Orla; Williams, Kelly L.; Fifita, Jennifer A.; Nicholson, Garth A.; Blair, Ian P.; Rouleau, Guy A.; Esteban-Perez, Jesus; Garcia-Redondo, Alberto; Al-Chalabi, Ammar; Rogaeva, Ekaterina; Zinman, Lorne; Ostrow, Lyle W.; Maragakis, Nicholas J.; Rothstein, Jeffrey D.; Simmons, Zachary; Cooper-Knock, Johnathan; Brice, Alexis; Goutman, Stephen A.; Feldman, Eva L.; Gibson, Summer B.; Taroni, Franco; Ratti, Antonia; Gellera, Cinzia; Van Damme, Philip; Robberecht, Wim; Fratta, Pietro; Sabatelli, Mario; Lunetta, Christian; Ludolph, Albert C.; Andersen, Peter M.; Weishaupt, Jochen H.; Camu, William; Trojanowski, John Q.; Van Deerlin, Vivianna M.; Brown, Robert H., Jr.; van den Berg, Leonard H.; Veldink, Jan H.; Harms, Matthew B.; Glass, Jonathan D.; Stone, David J.; Tienari, Pentti; Silani, Vincenzo; Chio, Adriano; Shaw, Christopher E.; Traynor, Bryan J.; Landers, John E.
G-quadruplex-binding small molecules ameliorate C9orf72 FTD/ALS pathology in vitro and in vivo
EMBO MOLECULAR MEDICINE
IF8.3
2017-11-07180
OAAI
Simone, Roberto; Balendra, Rubika; Moens, Thomas G.; Preza, Elisavet; Wilson, Katherine M.; Heslegrave, Amanda; Woodling, Nathan S.; Niccoli, Teresa; Gilbert-Jaramillo, Javier; Abdelkarim, Samir; Clayton, Emma L.; Clarke, Mica; Konrad, Marie-Therese; Nicoll, Andrew J.; Mitchell, Jamie S.; Calvo, Andrea; Chio, Adriano; Houlden, Henry; Polke, James M.; Ismail, Mohamed A.; Stephens, Chad E.; Vo, Tam; Farahat, Abdelbasset A.; Wilson, W. David; Boykin, David W.; Zetterberg, Henrik; Partridge, Linda; Wray, Selina; Parkinson, Gary; Neidle, Stephen; Patani, Rickie; Fratta, Pietro; Isaacs, Adrian M.

研究方向

暂未获取到该数据
E
Elizabeth Fisher
H 指数:86论文数:614被引数:3.3万
A
Andrea Malaspina
H 指数:56论文数:221被引数:1.2万
L
Linda Greensmith
H 指数:57论文数:311被引数:1.1万
R
Richard W. Orrell
H 指数:53论文数:234被引数:1.5万
J
John Hardy
H 指数:207论文数:1,883被引数:23.8万
K
Katie Sidle
H 指数:28论文数:61被引数:1.0万
A
Abraham Acevedo‐Arozena
H 指数:31论文数:104被引数:1.6万
H
Henry Houlden
H 指数:120论文数:1,507被引数:6.4万
M
Matteo Zanovello
H 指数:13论文数:39被引数:949
T
Tammaryn Lashley
H 指数:67论文数:398被引数:2.1万