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Jacqueline van der Spuy

Observed names: J van der Spuy, J. van der Spuy, J. van der Spuy, Jacqueline VAN DER SPUY, Jacqueline Van Der Spuy, Jacqueline Van der Spuy, Jacqueline van der Spuy (333600), Jacqui van der Spuy, van der Spuy, J, van der Spuy, Jacqueline
ORCID: 0000-0001-5906-2116
Observed ORCID: 0000-0001-5906-2116
OpenAlex ID: A5022936848
Mechanisms of cell death in rhodopsin retinitis pigmentosa: implications for therapy
2005 · Hugo F. Mendes, Jacqueline van der Spuy, et al. · Trends in Molecular Medicine · 377
The Role of the Aryl Hydrocarbon Receptor-Interacting Protein Gene in Familial and Sporadic Pituitary Adenomas
2008 · Chrysanthia A. Leontiou, Maria Gueorguiev, et al. · The Journal of Clinical Endocrinology & Metabolism · 299
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HSJ1 Is a Neuronal Shuttling Factor for the Sorting of Chaperone Clients to the Proteasome
2005 · Britta Westhoff, J. Paul Chapple, et al. · Current Biology · 141
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Treatment with extracellular HSP70/HSC70 protein can reduce polyglutamine toxicity and aggregation
2005 · Tatiana V. Novoselova, Boris A. Margulis, et al. · Journal of Neurochemistry · 94
The Role of HSP70 and Its Co-chaperones in Protein Misfolding, Aggregation and Disease
2014 · Emma J. Duncan, Michael E. Cheetham, et al. · Sub-cellular biochemistry/Subcellular biochemistry · 91
Unfolding retinal dystrophies: a role for molecular chaperones?
2001 · J.Paul Chapple, Celene Grayson, et al. · Trends in Molecular Medicine · 91
The Leber congenital amaurosis gene product AIPL1 is localized exclusively in rod photoreceptors of the adult human retina
2002 · J. van der Spuy · Human Molecular Genetics · 80
The Leber Congenital Amaurosis Protein AIPL1 Functions as Part of a Chaperone Heterocomplex
2008 · Juan Hidalgo-de-Quintana, R. Jane Evans, et al. · Investigative Ophthalmology & Visual Science · 68
An Assessment of the Apex Microarray Technology in Genotyping Patients with Leber Congenital Amaurosis and Early-Onset Severe Retinal Dystrophy
2007 · Robert H. Henderson, Naushin Waseem, et al. · Investigative Ophthalmology & Visual Science · 62
The Expression of the Leber Congenital Amaurosis Protein AIPL1 Coincides with Rod and Cone Photoreceptor Development
2003 · Jacqueline van der Spuy, Jeong H. Kim, et al. · Investigative Ophthalmology & Visual Science · 55
Heat shock cognate protein 70 chaperone-binding site in the co-chaperone murine stress-inducible protein 1 maps to within three consecutive tetratricopeptide repeat motifs
2000 · Jacqueline VAN DER SPUY, Bavesh D. KANA, et al. · Biochemical Journal · 51
CRISPR-Cas9 correction of OPA1 c.1334G>A: p.R445H restores mitochondrial homeostasis in dominant optic atrophy patient-derived iPSCs
2021 · Paul E. Sladen, Pedro R.L. Perdigão, et al. · Molecular Therapy — Nucleic Acids · 47
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Preserved Outer Retina in AIPL1 Leber's Congenital Amaurosis: Implications for Gene Therapy
2015 · Jonathan Aboshiha, Adam M. Dubis, et al. · Ophthalmology · 38
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The Leber Congenital Amaurosis Protein AIPL1 Modulates the Nuclear Translocation of NUB1 and Suppresses Inclusion Formation by NUB1 Fragments
2004 · Jacqueline van der Spuy, Michael E. Cheetham · Journal of Biological Chemistry · 37
NUB1 modulation of GSK3β reduces tau aggregation
2012 · Emma Richet, Amy M. Pooler, et al. · Human Molecular Genetics · 35
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Neuronal DnaJ proteins HSJ1a and HSJ1b: a role in linking the Hsp70 chaperone machine to the ubiquitin–proteasome system?
2004 · J.P. Chapple, J. van der Spuy, et al. · Biochemical Society Transactions · 34
Investigation of PTC124-mediated translational readthrough in a retinal organoid model of AIPL1-associated Leber congenital amaurosis
2022 · Amy Leung, Almudena Sacristan-Reviriego, et al. · Stem Cell Reports · 30
Eupatilin Improves Cilia Defects in Human CEP290 Ciliopathy Models
2023 · JC Corral-Serrano, PE Sladen, et al. · Cells · 29
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CRISPR-Cas9 correction of a nonsense mutation in LCA5 rescues lebercilin expression and localization in human retinal organoids
2023 · Tess A.V. Afanasyeva, Dimitra Athanasiou, et al. · Molecular Therapy — Methods & Clinical Development · 24
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Retinal Organoids from an AIPL1 CRISPR/Cas9 Knockout Cell Line Successfully Recapitulate the Molecular Features of LCA4 Disease
2023 · Pedro R. L. Perdigão, Bethany Ollington, et al. · International Journal of Molecular Sciences · 24
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The integrity and organization of the human AIPL1 functional domains is critical for its role as a HSP90-dependent co-chaperone for rod PDE6
2017 · Almudena Sacristan-Reviriego, James Bellingham, et al. · Human Molecular Genetics · 22
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Effective AAV-mediated gene replacement therapy in retinal organoids modeling AIPL1-associated LCA4
2024 · Hali Sai, Bethany Ollington, et al. · Molecular Therapy — Nucleic Acids · 21
Clinical and functional analyses of AIPL1 variants reveal mechanisms of pathogenicity linked to different forms of retinal degeneration
2020 · Almudena Sacristan-Reviriego, Hoang Mai Le, et al. · Scientific Reports · 20
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Gene therapy in children with AIPL1-associated severe retinal dystrophy: an open-label, first-in-human interventional study
2025 · Michel Michaelides, Yannik Laich, et al. · The Lancet · 19
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The Inherited Blindness Protein AIPL1 Regulates the Ubiquitin-Like FAT10 Pathway
2012 · John S. Bett, Naheed Kanuga, et al. · PLoS ONE · 18
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Works count: 76
Citation count: 1,999
H-index: 21
I10-index: 35
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