Works matching AU Middlehurst, Ben

Results: 11

Penetrance of Parkinson's Disease in LRRK2 p.G2019S Carriers Is Modified by a Polygenic Risk Score.

Published in:

2020

By:

Iwaki, Hirotaka;
Blauwendraat, Cornelis;
Makarious, Mary B.;
Bandrés‐Ciga, Sara;
Leonard, Hampton L.;
Gibbs, J. Raphael;
Hernandez, Dena G.;
Scholz, Sonja W.;
Faghri, Faraz;
Nalls, Mike A.;
Singleton, Andrew B.;
Noyce, Alastair J;
Kaiyrzhanov, Rauan;
Middlehurst, Ben;
Kia, Demis A;
Tan, Manuela;
Houlden, Henry;
Morris, Huw R;
Plun‐Favreau, Helene;
Holmans, Peter

Publication type:

journal article

The endocytic membrane trafficking pathway plays a major role in the risk of Parkinson's disease.

Published in:

2019

By:

Bandres‐Ciga, Sara;
Saez‐Atienzar, Sara;
Bonet‐Ponce, Luis;
Billingsley, Kimberley;
Vitale, Dan;
Blauwendraat, Cornelis;
Gibbs, Jesse Raphael;
Pihlstrøm, Lasse;
Gan‐Or, Ziv;
Noyce, Alastair J;
Kaiyrzhanov, Rauan;
Middlehurst, Ben;
Kia, Demis A;
Tan, Manuela;
Houlden, Henry;
Morris, Huw R;
Plun‐Favreau, Helene;
Holmans, Peter;
Hardy, John;
Trabzuni, Daniah

Publication type:

journal article

Deciphering the role of a SINE-VNTR-Alu retrotransposon polymorphism as a biomarker of Parkinson’s disease progression.

Published in:

Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-61753-5

By:

Fröhlich, Alexander;
Pfaff, Abigail L.;
Middlehurst, Ben;
Hughes, Lauren S.;
Bubb, Vivien J.;
Quinn, John P.;
Koks, Sulev

Publication type:

Article

Finding genetically-supported drug targets for Parkinson's disease using Mendelian randomization of the druggable genome.

Published in:

Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-26280-1

By:

Storm, Catherine S.;
Kia, Demis A.;
Almramhi, Mona M.;
Bandres-Ciga, Sara;
Finan, Chris;
International Parkinson's Disease Genomics Consortium (IPDGC);
Noyce, Alastair J.;
Kaiyrzhanov, Rauan;
Middlehurst, Ben;
Tan, Manuela;
Houlden, Henry;
Morris, Huw R.;
Plun-Favreau, Helene;
Holmans, Peter;
Hardy, John;
Trabzuni, Daniah;
Quinn, John;
Bubb, Vivien;
Mok, Kin Y.;
Kinghorn, Kerri J.

Publication type:

Article

CRISPR deletion of a SINE-VNTR-Alu (SVA_67) retrotransposon demonstrates its ability to differentially modulate gene expression at the MAPT locus.

Published in:

Frontiers in Neurology, 2023, p. 1, doi. 10.3389/fneur.2023.1273036

By:

Fröhlich, Alexander;
Hughes, Lauren S.;
Middlehurst, Ben;
Pfaff, Abigail L.;
Bubb, Vivien J.;
Koks, Sulev;
Quinn, John P.

Publication type:

Article

A polymorphic transcriptional regulatory domain in the amyotrophic lateral sclerosis risk gene CFAP410 correlates with differential isoform expression.

Published in:

Frontiers in Molecular Neuroscience, 2022, v. 15, p. 1, doi. 10.3389/fnmol.2022.954928

By:

Marshall, Jack N. G.;
Fröhlich, Alexander;
Li Li;
Pfaff, Abigail L.;
Middlehurst, Ben;
Spargo, Thomas P.;
Iacoangeli, Alfredo;
Bing Lang;
Al-Chalabi, Ammar;
Koks, Sulev;
Bubb, Vivien J.;
Quinn, John P.

Publication type:

Article

A SINE-VNTR-Alu at the LRIG2 locus is associated with proximal and distal gene expression in CRISPR and population models.

Published in:

Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-023-50307-w

By:

Hall, Ashley;
Middlehurst, Ben;
Cadogan, Max A. M.;
Reed, Xylena;
Billingsley, Kimberley J.;
Bubb, Vivien J.;
Quinn, John P.

Publication type:

Article

The role of Ca<sup>2+</sup> influx in endocytic vacuole formation in pancreatic acinar cells.

Published in:

Biochemical Journal, 2015, v. 465, n. 3, p. 405, doi. 10.1042/BJ20140398

By:

Voronina, Svetlana;
Collier, David;
Chvanov, Michael;
Middlehurst, Ben;
Beckett, Alison J.;
Prior, Ian A.;
Criddle, David N.;
Begg, Malcolm;
Katsuhiko Mikoshiba;
Sutton, Robert;
Tepikin, Alexei V.

Publication type:

Article

Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage.

Published in:

Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-22262-5

By:

Chen, Zhongbo;
Zhang, David;
Reynolds, Regina H.;
Gustavsson, Emil K.;
García-Ruiz, Sonia;
D'Sa, Karishma;
Fairbrother-Browne, Aine;
Vandrovcova, Jana;
International Parkinson's Disease Genomics Consortium (IPDGC);
Noyce, Alastair J.;
Kaiyrzhanov, Rauan;
Middlehurst, Ben;
Kia, Demis A.;
Tan, Manuela;
Morris, Huw R.;
Plun-Favreau, Helene;
Holmans, Peter;
Trabzuni, Daniah;
Bras, Jose;
Quinn, John

Publication type:

Article

Identification of sixteen novel candidate genes for late onset Parkinson's disease.

Published in:

Molecular Neurodegeneration, 2021, v. 16, n. 1, p. 1, doi. 10.1186/s13024-021-00455-2

By:

Gialluisi, Alessandro;
Reccia, Mafalda Giovanna;
Modugno, Nicola;
Nutile, Teresa;
Lombardi, Alessia;
Di Giovannantonio, Luca Giovanni;
Pietracupa, Sara;
Ruggiero, Daniela;
Scala, Simona;
Gambardella, Stefano;
International Parkinson's Disease Genomics Consortium (IPDGC);
Noyce, Alastair J.;
Kaiyrzhanov, Rauan;
Middlehurst, Ben;
Kia, Demis A.;
Tan, Manuela;
Houlden, Henry;
Morris, Huw R.;
Plun-Favreau, Helene;
Holmans, Peter

Publication type:

Article

Restricted differentiative capacity of Wt1-expressing peritoneal mesothelium in postnatal and adult mice.

Published in:

Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-95380-1

By:

Wilm, Thomas P.;
Tanton, Helen;
Mutter, Fiona;
Foisor, Veronica;
Middlehurst, Ben;
Ward, Kelly;
Benameur, Tarek;
Hastie, Nicholas;
Wilm, Bettina

Publication type:

Article