Publications by authors named "Matteo Ferla"

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Crystal structure of fatty acid thioesterase A bound by 129 fragments provides diverse development opportunities.
Ekaterina Kot, Matteo Paolo Ferla, Patricia Helen Hollinshead, Charles William Ernest Tomlinson, Daren Fearon

Pest Manag Sci· January 2026

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Combined crystallographic fragment screening and deep mutational scanning enable discovery of Zika virus NS2B-NS3 protease inhibitors.
Xiaomin Ni, R Blake Richardson, Andre Schutzer Godoy, Matteo P Ferla, Caroline Kikawa

Nat Commun· October 2025

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Crystallographic fragment screening and deep mutational scanning of Zika virus NS2B-NS3 protease enable development of resistance-resilient inhibitors.
Xiaomin Ni, R Blake Richardson, Andre Schutzer Godoy, Matteo P Ferla, Caroline Kikawa

bioRxiv· February 2025

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Crystallographic fragment screening and deep mutational scanning of Zika virus NS2B-NS3 protease enable development of resistance-resilient inhibitors.
Frank von Delft, Xiaomin Ni, R Richardson, Andre Godoy, Matteo Ferla

Res Sq· February 2025

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Dominant negative variants in ITPR3 impair T cell Ca2+ dynamics causing combined immunodeficiency.
Elena Blanco, Carme Camps, Sameer Bahal, Mohit D Kerai, Matteo P Ferla

J Exp Med· January 2025

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Fragmenstein: predicting protein-ligand structures of compounds derived from known crystallographic fragment hits using a strict conserved-binding-based methodology.
Matteo P Ferla, Rubén Sánchez-García, Rachael E Skyner, Stefan Gahbauer, Jenny C Taylor

J Cheminform· January 2025

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De novo variants in DENND5B cause a neurodevelopmental disorder.
Marcello Scala, Valeria Tomati, Matteo Ferla, Mariateresa Lena, Julie S Cohen

Am J Hum Genet· March 2024

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Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.
Reza Maroofian, Rauan Kaiyrzhanov, Elisa Cali, Mina Zamani, Maha S Zaki, Matteo Ferla

Brain· December 2023

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Open science discovery of potent noncovalent SARS-CoV-2 main protease inhibitors.
Melissa L Boby, Daren Fearon, Matteo Ferla, Mihajlo Filep, Lizbé Koekemoer

Science· November 2023

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Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.
Alistair T Pagnamenta, Carme Camps, Edoardo Giacopuzzi, John M Taylor, Mona Hashim, Matteo Ferla

Genome Med· November 2023

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The prevalence and phenotypic range associated with biallelic PKDCC variants.
Alistair T Pagnamenta, Rebecca S Belles, Bonnie Anne Salbert, Ingrid M Wentzensen, Maria J Guillen Sacoto, Matteo Ferla

Clin Genet· July 2023

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Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities.
Elisa Cali, Mohnish Suri, Marcello Scala, Matteo P Ferla, Shahryar Alavi

Genet Med· January 2023

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Iterative computational design and crystallographic screening identifies potent inhibitors targeting the Nsp3 macrodomain of SARS-CoV-2.
Stefan Gahbauer, Galen J Correy, Marion Schuller, Matteo P Ferla, Yagmur Umay Doruk

Proc Natl Acad Sci U S A· January 2023

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Variable skeletal phenotypes associated with biallelic variants in .
Alistair T Pagnamenta, Francisca Diaz-Gonzalez, Benito Banos-Pinero, Matteo P Ferla, Mehran B Toosi

J Med Genet· October 2022

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Iterative computational design and crystallographic screening identifies potent inhibitors targeting the Nsp3 Macrodomain of SARS-CoV-2.
Stefan Gahbauer, Galen J Correy, Marion Schuller, Matteo P Ferla, Yagmur Umay Doruk

bioRxiv· July 2022

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Venus: Elucidating the Impact of Amino Acid Variants on Protein Function Beyond Structure Destabilisation.
Matteo P Ferla, Alistair T Pagnamenta, Leonidas Koukouflis, Jenny C Taylor, Brian D Marsden

J Mol Biol· June 2022

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Recurrent missense variants in can cause syndromic intellectual disability.
Natalie B Tan, Alistair T Pagnamenta, Matteo P Ferla, Jonathan Gadian, Brian Hy Chung

J Med Genet· May 2022

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Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy.
Dana Marafi, Jawid M Fatih, Rauan Kaiyrzhanov, Matteo P Ferla, Charul Gijavanekar

Brain· April 2022

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Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.
Marcello Scala, Saskia B Wortmann, Namik Kaya, Menno D Stellingwerff, Angela Pistorio, Matteo P Ferla

Hum Mutat· March 2022

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DogCatcher allows loop-friendly protein-protein ligation.
Anthony H Keeble, Vikash K Yadav, Matteo P Ferla, Claudia C Bauer, Eulashini Chuntharpursat-Bon

Cell Chem Biol· February 2022

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Biallelic PI4KA variants cause neurological, intestinal and immunological disease.
Claire G Salter, Yiying Cai, Bernice Lo, Guy Helman, Henry Taylor, Matteo P Ferla

Brain· December 2021

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Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease.
Omar Hikmat, Pirjo Isohanni, Nandaki Keshavan, Matteo P Ferla, Elisa Fassone

Ann Clin Transl Neurol· November 2021

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GM1-Gangliosidosis Type III Associated Parkinsonism.
Rauan Kaiyrzhanov, Ulviyya Guliyeva, Sughra Gulieva, Kamran Salayev, Aytan Mursalova, Matteo P Ferla

Mov Disord Clin Pract· August 2021

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Commentary: GM1-Gangliosidosis Type III Associated Parkinsonism.
Manju A Kurian, Rauan Kaiyrzhanov, Parvin Allahyarova, Ulviyya Guliyeva, Sughra Gulieva, Matteo P Ferla

Mov Disord Clin Pract· August 2021

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Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms.
Caroline F Wright, Nicholas M Quaife, Laura Ramos-Hernández, Petr Danecek, Matteo P Ferla

Am J Hum Genet· June 2021

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