Pesquisa | BVS Doenças Infecciosas e Parasitárias

1.

Iterative computational design and crystallographic screening identifies potent inhibitors targeting the Nsp3 macrodomain of SARS-CoV-2.

Gahbauer, Stefan; Correy, Galen J; Schuller, Marion; Ferla, Matteo P; Doruk, Yagmur Umay; Rachman, Moira; Wu, Taiasean; Diolaiti, Morgan; Wang, Siyi; Neitz, R Jeffrey; Fearon, Daren; Radchenko, Dmytro S; Moroz, Yurii S; Irwin, John J; Renslo, Adam R; Taylor, Jenny C; Gestwicki, Jason E; von Delft, Frank; Ashworth, Alan; Ahel, Ivan; Shoichet, Brian K; Fraser, James S.

Proc Natl Acad Sci U S A ; 120(2): e2212931120, 2023 01 10.

Artigo em Inglês | MEDLINE | ID: mdl-36598939

2.

Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms.

Wright, Caroline F; Quaife, Nicholas M; Ramos-Hernández, Laura; Danecek, Petr; Ferla, Matteo P; Samocha, Kaitlin E; Kaplanis, Joanna; Gardner, Eugene J; Eberhardt, Ruth Y; Chao, Katherine R; Karczewski, Konrad J; Morales, Joannella; Gallone, Giuseppe; Balasubramanian, Meena; Banka, Siddharth; Gompertz, Lianne; Kerr, Bronwyn; Kirby, Amelia; Lynch, Sally A; Morton, Jenny E V; Pinz, Hailey; Sansbury, Francis H; Stewart, Helen; Zuccarelli, Britton D; Cook, Stuart A; Taylor, Jenny C; Juusola, Jane; Retterer, Kyle; Firth, Helen V; Hurles, Matthew E; Lara-Pezzi, Enrique; Barton, Paul J R; Whiffin, Nicola.

Am J Hum Genet ; 108(6): 1083-1094, 2021 06 03.

Artigo em Inglês | MEDLINE | ID: mdl-34022131

3.

A human importin-ß-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8.

Van Gucht, Ilse; Meester, Josephina A N; Bento, Jotte Rodrigues; Bastiaansen, Maaike; Bastianen, Jarl; Luyckx, Ilse; Van Den Heuvel, Lotte; Neutel, Cédric H G; Guns, Pieter-Jan; Vermont, Mandy; Fransen, Erik; Perik, Melanie H A M; Velchev, Joe Davis; Alaerts, Maaike; Schepers, Dorien; Peeters, Silke; Pintelon, Isabel; Almesned, Abdulrahman; Ferla, Matteo P; Taylor, Jenny C; Dallosso, Anthony R; Williams, Maggie; Evans, Julie; Rosenfeld, Jill A; Sluysmans, Thierry; Rodrigues, Desiderio; Chikermane, Ashish; Bharmappanavara, Gangadhara; Vijayakumar, Kayal; Mottaghi Moghaddam Shahri, Hassan; Hashemi, Narges; Torbati, Paria Najarzadeh; Toosi, Mehran B; Al-Hassnan, Zuhair N; Vogt, Julie; Revencu, Nicole; Maystadt, Isabelle; Miller, Erin M; Weaver, K Nicole; Begtrup, Amber; Houlden, Henry; Murphy, David; Maroofian, Reza; Pagnamenta, Alistair T; Van Laer, Lut; Loeys, Bart L; Verstraeten, Aline.

Am J Hum Genet ; 108(6): 1115-1125, 2021 06 03.

Artigo em Inglês | MEDLINE | ID: mdl-34010605

4.

Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities.

Cali, Elisa; Suri, Mohnish; Scala, Marcello; Ferla, Matteo P; Alavi, Shahryar; Faqeih, Eissa Ali; Bijlsma, Emilia K; Wigby, Kristen M; Baralle, Diana; Mehrjardi, Mohammad Y V; Schwab, Jennifer; Platzer, Konrad; Steindl, Katharina; Hashem, Mais; Jones, Marilyn; Niyazov, Dmitriy M; Jacober, Jennifer; Littlejohn, Rebecca Okashah; Weis, Denisa; Zadeh, Neda; Rodan, Lance; Goldenberg, Alice; Lecoquierre, François; Dutra-Clarke, Marina; Horvath, Gabriella; Young, Dana; Orenstein, Naama; Bawazeer, Shahad; Vulto-van Silfhout, Anneke T; Herenger, Yvan; Dehghani, Mohammadreza; Seyedhassani, Seyed Mohammad; Bahreini, Amir; Nasab, Mahya E; Ercan-Sencicek, A Gulhan; Firoozfar, Zahra; Movahedinia, Mojtaba; Efthymiou, Stephanie; Striano, Pasquale; Karimiani, Ehsan Ghayoor; Salpietro, Vincenzo; Taylor, Jenny C; Redman, Melody; Stegmann, Alexander P A; Laner, Andreas; Abdel-Salam, Ghada; Li, Megan; Bengala, Mario; Müller, Amelie Johanna; Digilio, Maria C.

Genet Med ; 25(1): 135-142, 2023 01.

Artigo em Inglês | MEDLINE | ID: mdl-36399134

5.

Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy.

Marafi, Dana; Fatih, Jawid M; Kaiyrzhanov, Rauan; Ferla, Matteo P; Gijavanekar, Charul; Al-Maraghi, Aljazi; Liu, Ning; Sites, Emily; Alsaif, Hessa S; Al-Owain, Mohammad; Zakkariah, Mohamed; El-Anany, Ehab; Guliyeva, Ulviyya; Guliyeva, Sughra; Gaba, Colette; Haseeb, Ateeq; Alhashem, Amal M; Danish, Enam; Karageorgou, Vasiliki; Beetz, Christian; Subhi, Alaa A; Mullegama, Sureni V; Torti, Erin; Sebastin, Monisha; Breilyn, Margo Sheck; Duberstein, Susan; Abdel-Hamid, Mohamed S; Mitani, Tadahiro; Du, Haowei; Rosenfeld, Jill A; Jhangiani, Shalini N; Coban Akdemir, Zeynep; Gibbs, Richard A; Taylor, Jenny C; Fakhro, Khalid A; Hunter, Jill V; Pehlivan, Davut; Zaki, Maha S; Gleeson, Joseph G; Maroofian, Reza; Houlden, Henry; Posey, Jennifer E; Sutton, V Reid; Alkuraya, Fowzan S; Elsea, Sarah H; Lupski, James R.

Brain ; 145(3): 909-924, 2022 04 29.

Artigo em Inglês | MEDLINE | ID: mdl-34605855

6.

Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability.

Tan, Natalie B; Pagnamenta, Alistair T; Ferla, Matteo P; Gadian, Jonathan; Chung, Brian Hy; Chan, Marcus Cy; Fung, Jasmine Lf; Cook, Edwin; Guter, Stephen; Boschann, Felix; Heinen, Andre; Schallner, Jens; Mignot, Cyril; Keren, Boris; Whalen, Sandra; Sarret, Catherine; Mittag, Dana; Demmer, Laurie; Stapleton, Rachel; Saida, Ken; Matsumoto, Naomichi; Miyake, Noriko; Sheffer, Ruth; Mor-Shaked, Hagar; Barnett, Christopher P; Byrne, Alicia B; Scott, Hamish S; Kraus, Alison; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Iorio, Raffaele; Di Dato, Fabiola; Pais, Lynn S; Yeung, Alison; Tan, Tiong Y; Taylor, Jenny C; Christodoulou, John; White, Susan M.

J Med Genet ; 59(5): 511-516, 2022 05.

Artigo em Inglês | MEDLINE | ID: mdl-34183358

7.

Biallelic PI4KA variants cause neurological, intestinal and immunological disease.

Salter, Claire G; Cai, Yiying; Lo, Bernice; Helman, Guy; Taylor, Henry; McCartney, Amber; Leslie, Joseph S; Accogli, Andrea; Zara, Federico; Traverso, Monica; Fasham, James; Lees, Joshua A; Ferla, Matteo P; Chioza, Barry A; Wenger, Olivia; Scott, Ethan; Cross, Harold E; Crawford, Joanna; Warshawsky, Ilka; Keisling, Matthew; Agamanolis, Dimitris; Ward Melver, Catherine; Cox, Helen; Elawad, Mamoun; Marton, Tamas; Wakeling, Matthew N; Holzinger, Dirk; Tippelt, Stephan; Munteanu, Martin; Valcheva, Deyana; Deal, Christin; Van Meerbeke, Sara; Walsh Vockley, Catherine; Butte, Manish J; Acar, Utkucan; van der Knaap, Marjo S; Korenke, G Christoph; Kotzaeridou, Urania; Balla, Tamas; Simons, Cas; Uhlig, Holm H; Crosby, Andrew H; De Camilli, Pietro; Wolf, Nicole I; Baple, Emma L.

Brain ; 144(12): 3597-3610, 2021 12 31.

Artigo em Inglês | MEDLINE | ID: mdl-34415310

8.

An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy.

Pagnamenta, Alistair T; Kaiyrzhanov, Rauan; Zou, Yaqun; Da'as, Sahar I; Maroofian, Reza; Donkervoort, Sandra; Dominik, Natalia; Lauffer, Marlen; Ferla, Matteo P; Orioli, Andrea; Giess, Adam; Tucci, Arianna; Beetz, Christian; Sedghi, Maryam; Ansari, Behnaz; Barresi, Rita; Basiri, Keivan; Cortese, Andrea; Elgar, Greg; Fernandez-Garcia, Miguel A; Yip, Janice; Foley, A Reghan; Gutowski, Nicholas; Jungbluth, Heinz; Lassche, Saskia; Lavin, Tim; Marcelis, Carlo; Marks, Peter; Marini-Bettolo, Chiara; Medne, Livija; Moslemi, Ali-Reza; Sarkozy, Anna; Reilly, Mary M; Muntoni, Francesco; Millan, Francisca; Muraresku, Colleen C; Need, Anna C; Nemeth, Andrea H; Neuhaus, Sarah B; Norwood, Fiona; O'Donnell, Marie; O'Driscoll, Mary; Rankin, Julia; Yum, Sabrina W; Zolkipli-Cunningham, Zarazuela; Brusius, Isabell; Wunderlich, Gilbert; Karakaya, Mert; Wirth, Brunhilde; Fakhro, Khalid A.

Brain ; 144(2): 584-600, 2021 03 03.

Artigo em Inglês | MEDLINE | ID: mdl-33559681

9.

MichelaNglo: sculpting protein views on web pages without coding.

Ferla, Matteo P; Pagnamenta, Alistair T; Damerell, David; Taylor, Jenny C; Marsden, Brian D.

Bioinformatics ; 36(10): 3268-3270, 2020 05 01.

Artigo em Inglês | MEDLINE | ID: mdl-32061125

10.

Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome.

Pagnamenta, Alistair T; Kaisaki, Pamela J; Bennett, Fenella; Burkitt-Wright, Emma; Martin, Hilary C; Ferla, Matteo P; Taylor, John M; Gompertz, Lianne; Lahiri, Nayana; Tatton-Brown, Katrina; Newbury-Ecob, Ruth; Henderson, Alex; Joss, Shelagh; Weber, Astrid; Carmichael, Jenny; Turnpenny, Peter D; McKee, Shane; Forzano, Francesca; Ashraf, Tazeen; Bradbury, Kimberley; Shears, Deborah; Kini, Usha; de Burca, Anna; Blair, Edward; Taylor, Jenny C; Stewart, Helen.

Clin Genet ; 95(6): 693-703, 2019 06.

Artigo em Inglês | MEDLINE | ID: mdl-30859559

11.

Primordial-like enzymes from bacteria with reduced genomes.

Ferla, Matteo P; Brewster, Jodi L; Hall, Kelsi R; Evans, Gary B; Patrick, Wayne M.

Mol Microbiol ; 105(4): 508-524, 2017 Aug.

Artigo em Inglês | MEDLINE | ID: mdl-28640457

12.

Variable skeletal phenotypes associated with biallelic variants in PRKG2.

Pagnamenta, Alistair T; Diaz-Gonzalez, Francisca; Banos-Pinero, Benito; Ferla, Matteo P; Toosi, Mehran B; Calder, Alistair D; Karimiani, Ehsan G; Doosti, Mohammad; Wainwright, Andrew; Wordsworth, Paul; Bailey, Kathryn; Ejeskär, Katarina; Lester, Tracy; Maroofian, Reza; Heath, Karen E; Tajsharghi, Homa; Shears, Deborah; Taylor, Jenny C.

J Med Genet ; 59(10): 947-950, 2022 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-34782440

13.

Evolving Accelerated Amidation by SpyTag/SpyCatcher to Analyze Membrane Dynamics.

Keeble, Anthony H; Banerjee, Anusuya; Ferla, Matteo P; Reddington, Samuel C; Anuar, Irsyad N A Khairil; Howarth, Mark.

Angew Chem Int Ed Engl ; 56(52): 16521-16525, 2017 12 22.

Artigo em Inglês | MEDLINE | ID: mdl-29024296

14.

Bacterial methionine biosynthesis.

Ferla, Matteo P; Patrick, Wayne M.

Microbiology (Reading) ; 160(Pt 8): 1571-1584, 2014 Aug.

Artigo em Inglês | MEDLINE | ID: mdl-24939187

15.

Crystallographic fragment screening delivers diverse chemical scaffolds for Zika virus NS2B-NS3 protease inhibitor development.

Ni, Xiaomin; Godoy, Andre Schutzer; Marples, Peter G; Fairhead, Michael; Balcomb, Blake H; Ferla, Matteo P; Tomlinson, Charles W E; Wang, Siyi; Giroud, Charline; Aschenbrenner, Jasmin Cara; Lithgo, Ryan M; Winokan, Max; Chandran, Anu V; Thompson, Warren; Xavier, Mary-Ann; Williams, Eleanor P; Walsh, Martin; Fearon, Daren; Koekemoer, Lizbé; von Delft, Frank.

bioRxiv ; 2024 Apr 29.

Artigo em Inglês | MEDLINE | ID: mdl-38746305

16.

The origin and ecological significance of multiple branches for histidine utilization in Pseudomonas aeruginosa PAO1.

Gerth, Monica L; Ferla, Matteo P; Rainey, Paul B.

Environ Microbiol ; 14(8): 1929-40, 2012 Aug.

Artigo em Inglês | MEDLINE | ID: mdl-22225844

17.

Venus: Elucidating the Impact of Amino Acid Variants on Protein Function Beyond Structure Destabilisation.

Ferla, Matteo P; Pagnamenta, Alistair T; Koukouflis, Leonidas; Taylor, Jenny C; Marsden, Brian D.

J Mol Biol ; 434(11): 167567, 2022 06 15.

Artigo em Inglês | MEDLINE | ID: mdl-35662467

18.

DogCatcher allows loop-friendly protein-protein ligation.

Keeble, Anthony H; Yadav, Vikash K; Ferla, Matteo P; Bauer, Claudia C; Chuntharpursat-Bon, Eulashini; Huang, Jin; Bon, Robin S; Howarth, Mark.

Cell Chem Biol ; 29(2): 339-350.e10, 2022 02 17.

Artigo em Inglês | MEDLINE | ID: mdl-34324879

19.

Iterative computational design and crystallographic screening identifies potent inhibitors targeting the Nsp3 Macrodomain of SARS-CoV-2.

Gahbauer, Stefan; Correy, Galen J; Schuller, Marion; Ferla, Matteo P; Doruk, Yagmur Umay; Rachman, Moira; Wu, Taiasean; Diolaiti, Morgan; Wang, Siyi; Neitz, R Jeffrey; Fearon, Daren; Radchenko, Dmytro; Moroz, Yurii; Irwin, John J; Renslo, Adam R; Taylor, Jenny C; Gestwicki, Jason E; von Delft, Frank; Ashworth, Alan; Ahel, Ivan; Shoichet, Brian K; Fraser, James S.

bioRxiv ; 2022 Jul 28.

Artigo em Inglês | MEDLINE | ID: mdl-35794891

20.

Pervasive cooperative mutational effects on multiple catalytic enzyme traits emerge via long-range conformational dynamics.

Acevedo-Rocha, Carlos G; Li, Aitao; D'Amore, Lorenzo; Hoebenreich, Sabrina; Sanchis, Joaquin; Lubrano, Paul; Ferla, Matteo P; Garcia-Borràs, Marc; Osuna, Sílvia; Reetz, Manfred T.

Nat Commun ; 12(1): 1621, 2021 03 12.

Artigo em Inglês | MEDLINE | ID: mdl-33712579

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