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P

Pedro Rebelo-Guiomar

University of Cambridge
H指数:17
被引数:1,742

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Pathogenic PDE12 variants impair mitochondrial RNA processing causing neonatal mitochondrial disease
EMBO MOLECULAR MEDICINE
IF8.3
2024-11-201
PRE
Van Haute, Lindsey; Palenikova, Petra; Tang, Jia Xin; Nash, Pavel A.; Simon, Mariella T.; Pyle, Angela; Olahova, Monika; Powell, Christopher A.; Rebelo-Guiomar, Pedro; Stover, Alexander; Champion, Michael; Deshpande, Charulata; Baple, Emma L.; Stals, Karen L.; Ellard, Sian; Anselem, Olivia; Molac, Clemence; Petrilli, Giulia; Loeuillet, Laurence; Grotto, Sarah; Attie-Bitach, Tania; Abdenur, Jose E.; Taylor, Robert W.; Minczuk, Michal
TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease
NATURE COMMUNICATIONS
IF15.7
2023-02-2310
OAAI
Van Haute, Lindsey; O'Connor, Emily; Diaz-Maldonado, Hector; Munro, Benjamin; Polavarapu, Kiran; Hock, Daniella H.; Arunachal, Gautham; Athanasiou-Fragkouli, Alkyoni; Bardhan, Mainak; Barth, Magalie; Bonneau, Dominique; Brunetti-Pierri, Nicola; Cappuccio, Gerarda; Caruana, Nikeisha J.; Dominik, Natalia; Goel, Himanshu; Helman, Guy; Houlden, Henry; Lenaers, Guy; Mention, Karine; Murphy, David; Nandeesh, Bevinahalli; Olimpio, Catarina; Powell, Christopher A.; Preethish-Kumar, Veeramani; Procaccio, Vincent; Rius, Rocio; Rebelo-Guiomar, Pedro; Simons, Cas; Vengalil, Seena; Zaki, Maha S.; Ziegler, Alban; Thorburn, David R.; Stroud, David A.; Maroofian, Reza; Christodoulou, John; Gustafsson, Claes; Nalini, Atchayaram; Lochmueller, Hanns; Minczuk, Michal; Horvath, Rita
Cardiac mitochondrial function depends on BUD23 mediated ribosome programming

心脏线粒体功能依赖于BUD23介导的核糖体编程

ELIFE
IF0
2020-01-1510
OA
Baxter, Matthew; Voronkov, Maria; Poolman, Toryn; Galli, Gina; Pinali, Christian; Goosey, Laurence; Knight, Abigail; Krakowiak, Karolina; Maidstone, Robert; Iqbal, Mudassar; Zi, Min; Prehar, Sukhpal; Cartwright, Elizabeth J.; Gibbs, Julie; Matthews, Laura C.; Adamson, Antony D.; Humphreys, Neil E.; Rebelo-Guiomar, Pedro; Minczuk, Michal; Bechtold, David A.; Loudon, Andrew; Ray, David
Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3′-end processing

与肥厚型心肌病相关的ELAC2突变损害线粒体tRNA 3 ′ 末端加工

HUMAN MUTATION
IF3.7
2019-06-1831
OAAI
Saoura, Makenzie; Powell, Christopher A.; Kopajtich, Robert; Alahmad, Ahmad; AL-Balool, Haya H.; Albash, Buthaina; Alfadhel, Majid; Alston, Charlotte L.; Bertini, Enrico; Bonnen, Penelope E.; Bratkovic, Drago; Carrozzo, Rosalba; Donati, Maria A.; Di Nottia, Michela; Ghezzi, Daniele; Goldstein, Amy; Haan, Eric; Horvath, Rita; Hughes, Joanne; Invernizzi, Federica; Lamantea, Eleonora; Lucas, Benjamin; Pinnock, Kyla-Gaye; Pujantell, Maria; Rahman, Shamima; Rebelo-Guiomar, Pedro; Santra, Saikat; Verrigni, Daniela; McFarland, Robert; Prokisch, Holger; Taylor, Robert W.; Levinger, Louis; Minczuk, Michal
Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2018-12-0188
OAAI
De Brouwer, Arjan P. M.; Abou Jamra, Rami; Koertel, Nadine; Soyris, Clara; Polla, Daniel L.; Safra, Modi; Zisso, Avia; Powell, Christopher A.; Rebelo-Guiomar, Pedro; Dinges, Nadja; Morin, Violeta; Stock, Michael; Hussain, Mureed; Shahzad, Mohsin; Riazuddin, Saima; Ahmed, Zubair M.; Pfundt, Rolph; Schwarz, Franziska; de Boer, Lonneke; Reis, Andre; Grozeva, Detilina; Raymond, F. Lucy; Riazuddin, Sheikh; Koolen, David A.; Minczuk, Michal; Roignant, Jean-Yves; van Bokhoven, Hans; Schwartz, Schraga
Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder
NATURE COMMUNICATIONS
IF15.7
2018-10-0338
OAAI
Friederich, Marisa W.; Timal, Sharita; Powell, Christopher A.; Dallabona, Cristina; Kurolap, Alina; Palacios-Zambrano, Sara; Bratkovic, Drago; Derks, Terry G. J.; Bick, David; Bouman, Katelijne; Chatfield, Kathryn C.; Damouny-Naoum, Nadine; Dishop, Megan K.; Falik-Zaccai, Tzipora C.; Fares, Fuad; Fedida, Ayalla; Ferrero, Ileana; Gallagher, Renata C.; Garesse, Rafael; Gilberti, Micol; Gonzalez, Cristina; Gowan, Katherine; Habib, Clair; Halligan, Rebecca K.; Kalfon, Limor; Knight, Kaz; Lefeber, Dirk; Mamblona, Laura; Mandel, Hanna; Mory, Adi; Ottoson, John; Paperna, Tamar; Pruijn, Ger J. M.; Rebelo-Guiomar, Pedro F.; Saada, Ann; Sainz, Bruno, Jr.; Salvemini, Hayley; Schoots, Mirthe H.; Smeitink, Jan A.; Szukszto, Maciej J.; ter Horst, Hendrik J.; van den Brandt, Frans; van Spronsen, Francjan J.; Veltman, Joris A.; Wartchow, Eric; Wintjes, Liesbeth T.; Zohar, Yaniv; Fernandez-Moreno, Miguel A.; Baris, Hagit N.; Donnini, Claudia; Minczuk, Michal; Rodenburg, Richard J.; Van Hove, Johan L. K.
Genome editing in mitochondria corrects a pathogenic mtDNA mutation in vivo

线粒体中的基因组编辑在体内纠正了致病性mtDNA突变

NATURE MEDICINE
IF50
2018-09-24230
OAAI
Gammage, Payam A.; Viscomi, Carlo; Simard, Marie-Lune; Costa, Ana S. H.; Gaude, Edoardo; Powell, Christopher A.; Van Haute, Lindsey; McCann, Beverlyj; Rebelo-Guiomar, Pedro; Cerutti, Raffaele; Zhang, Lei; Rebar, Edward J.; Zeviani, Massimo; Frezza, Christian; Stewart, James B.; Minczuk, Michal
Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2017-10-0158
OAAI
Feichtinger, Rene G.; Olahova, Monika; Kishita, Yoshihito; Garone, Caterina; Kremer, Laura S.; Yagi, Mikako; Uchiumi, Takeshi; Jourdain, Alexis A.; Thompson, Kyle; D'Souza, Aaron R.; Kopajtich, Robert; Alston, Charlotte L.; Koch, Johannes; Sperl, Wolfgang; Mastantuono, Elisa; Strom, Tim M.; Wortmann, Saskia B.; Meitinger, Thomas; Pierre, Germaine; Chinnery, Patrick F.; Chrzanowska-Lightowlers, Zofia M.; Lightowlers, Robert N.; DiMauro, Salvatore; Calvo, Sarah E.; Mootha, Vamsi K.; Moggio, Maurizio; Sciacco, Monica; Comi, Giacomo P.; Ronchi, Dario; Murayama, Kei; Ohtake, Akira; Rebelo-Guiomar, Pedro; Kohda, Masakazu; Kang, Dongchon; Mayr, Johannes A.; Taylor, Robert W.; Okazaki, Yasushi; Minczuk, Michal; Prokisch, Holger

研究方向

暂未获取到该数据
M
Michal Minczuk
H 指数:57论文数:151被引数:9,025
C
Christopher A. Powell
H 指数:32论文数:61被引数:3,589
L
Lindsey Van Haute
H 指数:25论文数:51被引数:2,788
A
Aaron R. D’Souza
H 指数:10论文数:22被引数:1,149
J
Joanna Rorbach
H 指数:36论文数:102被引数:4,350
R
Robert W. Taylor
H 指数:97论文数:763被引数:3.9万
P
Payam A. Gammage
H 指数:21论文数:41被引数:2,709
S
Schraga Schwartz
H 指数:44论文数:127被引数:2.0万
P
Petra Páleníková
H 指数:7论文数:20被引数:703
C
Caterina Garone
H 指数:32论文数:101被引数:3,712