Publications by authors named "David A Parfitt"

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Evaluation of in vitro liver models and non-human primates for predicting ADAR RNA editing efficiency in human liver.
Monica Aguila, Nicole H P Cnubben, David A Parfitt, Bruno Albuquerque, Peter C de Visser

Sci Rep· November 2025

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Calcium-Enhanced Medium-Based Delivery of Splice Modulating Antisense Oligonucleotides in 2D and 3D hiPSC-Derived Neuronal Models.
Ronald A M Buijsen, Linda M van der Graaf, Elsa C Kuijper, Barry A Pepers, Elena Daoutsali, David A Parfitt

Biomedicines· August 2024

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Amyloid beta accumulations and enhanced neuronal differentiation in cerebral organoids of Dutch-type cerebral amyloid angiopathy patients.
Elena Daoutsali, Barry A Pepers, Stavros Stamatakis, Linda M van der Graaf, Gisela M Terwindt, David A Parfitt

Front Aging Neurosci· January 2023

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Iron accumulation induces oxidative stress, while depressing inflammatory polarization in human iPSC-derived microglia.
Boyd Kenkhuis, Michelle van Eekeren, David A Parfitt, Yavuz Ariyurek, Poulomi Banerjee

Stem Cell Reports· June 2022

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Detailed Phenotyping and Therapeutic Strategies for Intronic ABCA4 Variants in Stargardt Disease.
Mubeen Khan, Gavin Arno, Ana Fakin, David A Parfitt, Patty P A Dhooge

Mol Ther Nucleic Acids· September 2020

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AAV-mediated ERdj5 overexpression protects against P23H rhodopsin toxicity.
Monica Aguilà, James Bellingham, Dimitra Athanasiou, Dalila Bevilacqua, Yanai Duran, David A Parfitt

Hum Mol Genet· May 2020

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Splice-Modulating Oligonucleotide QR-110 Restores CEP290 mRNA and Function in Human c.2991+1655A>G LCA10 Models.
Kalyan Dulla, Monica Aguila, Amelia Lane, Katarina Jovanovic, David A Parfitt

Mol Ther Nucleic Acids· September 2018

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DNAJ Proteins in neurodegeneration: essential and protective factors.
Christina Zarouchlioti, David A Parfitt, Wenwen Li, Lauren M Gittings, Michael E Cheetham

Philos Trans R Soc Lond B Biol Sci· January 2018

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Arl3 and RP2 regulate the trafficking of ciliary tip kinesins.
Nele Schwarz, Amelia Lane, Katarina Jovanovic, David A Parfitt, Monica Aguila

Hum Mol Genet· September 2017

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Arl3 and RP2 regulate the trafficking of ciliary tip kinesins.
Nele Schwarz, Amelia Lane, Katarina Jovanovic, David A Parfitt, Monica Aguila

Hum Mol Genet· July 2017

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REEP6 deficiency leads to retinal degeneration through disruption of ER homeostasis and protein trafficking.
Smriti A Agrawal, Thomas Burgoyne, Aiden Eblimit, James Bellingham, David A Parfitt

Hum Mol Genet· July 2017

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Protein kinase CK2 modulates HSJ1 function through phosphorylation of the UIM2 domain.
Daniele Ottaviani, Oriano Marin, Giorgio Arrigoni, Cinzia Franchin, Jordi Vilardell, David A Parfitt

Hum Mol Genet· February 2017

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Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa.
Gavin Arno, Smriti A Agrawal, Aiden Eblimit, James Bellingham, Mingchu Xu, David A Parfitt

Am J Hum Genet· December 2016

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Using induced pluripotent stem cells to understand retinal ciliopathy disease mechanisms and develop therapies.
David A Parfitt, Amelia Lane, Conor Ramsden, Katarina Jovanovic, Peter J Coffey

Biochem Soc Trans· October 2016

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Identification and Correction of Mechanisms Underlying Inherited Blindness in Human iPSC-Derived Optic Cups.
David A Parfitt, Amelia Lane, Conor M Ramsden, Amanda-Jayne F Carr, Peter M Munro

Cell Stem Cell· June 2016

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Targeting the Proteostasis Network in Rhodopsin Retinitis Pigmentosa.
David A Parfitt, Michael E Cheetham

Adv Exp Med Biol· April 2016

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The cell stress machinery and retinal degeneration.
Dimitra Athanasiou, Monica Aguilà, Dalila Bevilacqua, Sergey S Novoselov, David A Parfitt

FEBS Lett· June 2013

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Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23).
Tom R Webb, David A Parfitt, Jessica C Gardner, Ariadna Martinez, Dalila Bevilacqua

Hum Mol Genet· August 2012

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Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).
Martine Girard, Roxanne Larivière, David A Parfitt, Emily C Deane, Rebecca Gaudet

Proc Natl Acad Sci U S A· January 2012

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Deficiency of ferritin heavy-chain nuclear import in triple a syndrome implies nuclear oxidative damage as the primary disease mechanism.
Helen L Storr, Barbara Kind, David A Parfitt, J Paul Chapple, M Lorenz

Mol Endocrinol· December 2009

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The ataxia protein sacsin is a functional co-chaperone that protects against polyglutamine-expanded ataxin-1.
David A Parfitt, Gregory J Michael, Esmeralda G M Vermeulen, Natalia V Prodromou, Tom R Webb

Hum Mol Genet· May 2009

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