Works by Spuy, Jacqueline van der

Results: 15

NUB1 modulation of tau aggregation

Published in:

2010

By:

Richet, Emma;
Cheetham, Mike;
Jacqueline Van Der Spuy

Publication type:

Abstract

Clinical and functional analyses of AIPL1 variants reveal mechanisms of pathogenicity linked to different forms of retinal degeneration.

Published in:

Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-74516-9

By:

Sacristan-Reviriego, Almudena;
Le, Hoang Mai;
Georgiou, Michalis;
Meunier, Isabelle;
Bocquet, Beatrice;
Roux, Anne-Françoise;
Prodromou, Chrisostomos;
Bainbridge, James;
Michaelides, Michel;
van der Spuy, Jacqueline

Publication type:

Article

Negative Regulator of Ubiquitin-Like Protein 1 modulates the autophagy–lysosomal pathway via p62 to facilitate the extracellular release of tau following proteasome impairment.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 1, p. 80, doi. 10.1093/hmg/ddz255

By:

Guarascio, Rosellina;
Salih, Dervis;
Yasvoina, Marina;
Edwards, Frances A;
Cheetham, Michael E;
van der Spuy, Jacqueline

Publication type:

Article

Retinal Organoids from an AIPL1 CRISPR/Cas9 Knockout Cell Line Successfully Recapitulate the Molecular Features of LCA4 Disease.

Published in:

International Journal of Molecular Sciences, 2023, v. 24, n. 6, p. 5912, doi. 10.3390/ijms24065912

By:

Perdigão, Pedro R. L.;
Ollington, Bethany;
Sai, Hali;
Leung, Amy;
Sacristan-Reviriego, Almudena;
van der Spuy, Jacqueline

Publication type:

Article

Induced Pluripotent Stem Cells and Genome-Editing Tools in Determining Gene Function and Therapy for Inherited Retinal Disorders.

Published in:

2022

By:

Benati, Daniela;
Leung, Amy;
Perdigao, Pedro;
Toulis, Vasileios;
van der Spuy, Jacqueline;
Recchia, Alessandra

Publication type:

Literature Review

The integrity and organization of the human AIPL1 functional domains is critical for its role as a HSP90-dependent co-chaperone for rod PDE6.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 22, p. 4465, doi. 10.1093/hmg/ddx334

By:

Sacristan-Reviriego, Almudena;
Bellingham, James;
Prodromou, Chrisostomos;
Kumaran, Neruban;
Bainbridge, James;
Michaelides, Michel;
van der Spuy, Jacqueline

Publication type:

Article

NUB1 modulation of GSK3β reduces tau aggregation.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 24, p. 5254, doi. 10.1093/hmg/dds376

By:

Richet, Emma;
Pooler, Amy M.;
Rodriguez, Teresa;
Novoselov, Sergey S.;
Schmidtke, Gunter;
Groettrup, Marcus;
Hanger, Diane P.;
Cheetham, Michael E.;
van der Spuy, Jacqueline

Publication type:

Article

The Leber Congenital Amaurosis Protein AIPL1 and EB Proteins Co-Localize at the Photoreceptor Cilium.

Published in:

PLoS ONE, 2015, v. 10, n. 3, p. 1, doi. 10.1371/journal.pone.0121440

By:

Hidalgo-de-Quintana, Juan;
Schwarz, Nele;
Meschede, Ingrid P.;
Stern-Schneider, Gabriele;
Powner, Michael B.;
Morrison, Ewan E.;
Futter, Clare E.;
Wolfrum, Uwe;
Cheetham, Michael E.;
van der Spuy, Jacqueline

Publication type:

Article

The Inherited Blindness Protein AIPL1 Regulates the Ubiquitin-Like FAT10 Pathway.

Published in:

PLoS ONE, 2012, v. 7, n. 2, p. 1, doi. 10.1371/journal.pone.0030866

By:

Bett, John S.;
Kanuga, Naheed;
Richet, Emma;
Schmidtke, Gunter;
Groettrup, Marcus;
Cheetham, Michael E.;
Der Spuy, Jacqueline van

Publication type:

Article

THE ROLE OF NUB1 IN THE CLEARANCE OF TAU AGGREGATES IN ALZHEIMER'S DISEASE.

Published in:

Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2017, v. 13, p. P330, doi. 10.1016/j.jalz.2017.06.047

By:

Guarascio, Rosellina;
van der Spuy, Jacqueline

Publication type:

Article

Eupatilin Improves Cilia Defects in Human CEP290 Ciliopathy Models.

Published in:

Cells (2073-4409), 2023, v. 12, n. 12, p. 1575, doi. 10.3390/cells12121575

By:

Corral-Serrano, Julio C.;
Sladen, Paul E.;
Ottaviani, Daniele;
Rezek, Olivia F.;
Athanasiou, Dimitra;
Jovanovic, Katarina;
van der Spuy, Jacqueline;
Mansfield, Brian C.;
Cheetham, Michael E.

Publication type:

Article

The Leber congenital amaurosis gene product AIPL1 is localized exclusively in rod photoreceptors of the adult human retina.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 7, p. 823, doi. 10.1093/hmg/11.7.823

By:

Spuy, Jacqueline van der;
Chapple, J. Paul;
Clark, Brian J.;
Luthert, Philip J.;
Sethi, Charanjit S.;
Cheetham, Michael E.

Publication type:

Article

The Role of the Aryl Hydrocarbon Receptor-Interacting Protein Gene in Familial and Sporadic Pituitary Adenomas.

Published in:

Journal of Clinical Endocrinology & Metabolism, 2008, v. 93, n. 6, p. 2390, doi. 10.1210/jc.2007-2611

By:

Leontiou, Chrysanthia A.;
Gueorguiev, Maria;
van der Spuy, Jacqueline;
Quinton, Richard;
Lolli, Francesca;
Hassan, Sevda;
Chahal, Harvinder S.;
Igreja, Susana C.;
Jordan, Suzanne;
Rowe, Janice;
Stolbrink, Marie;
Christian, Helen C.;
Wray, Jessica;
Bishop-Bailey, David;
Berney, Dan M.;
Wass, John A. H.;
Popovic, Vera;
Ribeiro-Oliveira, Jr. Antônio;
Gadelha, Monica R.;
Monson, John P.

Publication type:

Article

The Role of Hsp90 in Retinal Proteostasis and Disease.

Published in:

Biomolecules (2218-273X), 2022, v. 12, n. 7, p. N.PAG, doi. 10.3390/biom12070978

By:

Ziaka, Kalliopi;
van der Spuy, Jacqueline

Publication type:

Article

Treatment with extracellular HSP70/HSC70 protein can reduce polyglutamine toxicity and aggregation.

Published in:

Journal of Neurochemistry, 2005, v. 94, n. 3, p. 597, doi. 10.1111/j.1471-4159.2005.03119.x

By:

Novoselova, Tatiana V.;
Margulis, Boris A.;
Novoselov, Sergey S.;
Sapozhnikov, Alexander M.;
van der Spuy, Jacqueline;
Cheetham, Michael E.;
Guzhova, Irina V.

Publication type:

Article