The annotation of

Humans Glucosylceramidase / genetics Pseudogenes / genetics Brain / metabolism Molecular Sequence Annotation Parkinson Disease / genetics Gaucher Disease / genetics Sequence Analysis, RNA / methods

Journal

Science advances
ISSN: 2375-2548
Titre abrégé: Sci Adv
Pays: United States
ID NLM: 101653440

Informations de publication

Date de publication:
28 Jun 2024
Historique:
medline: 26 6 2024
pubmed: 26 6 2024
entrez: 26 6 2024
Statut: ppublish

Résumé

Mutations in

Identifiants

DOI: 10.1126/sciadv.adk1296 PMID: 38924406
pubmed: 38924406
doi: 10.1126/sciadv.adk1296
doi:

Substances chimiques

Glucosylceramidase EC 3.2.1.45
GBA protein, human EC 3.2.1.45

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

eadk1296

Auteurs

Emil K Gustavsson (EK)

Genetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London, UK.
Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD 20815, USA.
ORCID: 0000-0003-0541-7537

Siddharth Sethi (S)

Genetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London, UK.
Astex Pharmaceuticals, 436 Cambridge Science Park, Cambridge, UK.
ORCID: 0000-0002-4398-4295

Yujing Gao (Y)

Astex Pharmaceuticals, 436 Cambridge Science Park, Cambridge, UK.
ORCID: 0000-0002-4542-7062

Jonathan W Brenton (JW)

Genetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London, UK.
Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD 20815, USA.
ORCID: 0000-0002-2381-8484

Sonia García-Ruiz (S)

Genetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London, UK.
NIHR Great Ormond Street Hospital Biomedical Research Centre, University College London, London, UK.
ORCID: 0000-0003-4913-5312

David Zhang (D)

Genetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London, UK.

Raquel Garza (R)

Laboratory of Molecular Neurogenetics, Department of Experimental Medical Science, Wallenberg Neuroscience Center and Lund Stem Cell Center, Lund, Sweden.
ORCID: 0000-0002-2524-3055

Regina H Reynolds (RH)

Genetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London, UK.
Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD 20815, USA.
ORCID: 0000-0001-6470-7919

James R Evans (JR)

Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD 20815, USA.
Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK.
The Francis Crick Institute, London, UK.
ORCID: 0000-0003-2923-281X

Zhongbo Chen (Z)

Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, UK.
ORCID: 0000-0001-6668-7202

Melissa Grant-Peters (M)

Genetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London, UK.
Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD 20815, USA.
ORCID: 0000-0003-0585-0971

Hannah Macpherson (H)

Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, UK.
ORCID: 0000-0002-9535-4025

Kylie Montgomery (K)

Genetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London, UK.
Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, UK.
ORCID: 0000-0001-6090-0703

Rhys Dore (R)

Genetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London, UK.
ORCID: 0000-0001-8417-8743

Anna I Wernick (AI)

Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK.
The Francis Crick Institute, London, UK.
ORCID: 0000-0001-9048-9492

Charles Arber (C)

Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, UK.
ORCID: 0000-0002-9743-8134

Selina Wray (S)

Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, UK.

Sonia Gandhi (S)

Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD 20815, USA.
Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK.
The Francis Crick Institute, London, UK.
ORCID: 0000-0003-4395-2661

Julian Esselborn (J)

Astex Pharmaceuticals, 436 Cambridge Science Park, Cambridge, UK.
ORCID: 0000-0002-3499-8417

Cornelis Blauwendraat (C)

Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA.
ORCID: 0000-0001-9358-8111

Christopher H Douse (CH)

Laboratory of Epigenetics and Chromatin Dynamics, Department of Experimental Medical Science, Lund Stem Cell Center, Lund University, Lund, Sweden.
ORCID: 0000-0002-1604-8944

Anita Adami (A)

Laboratory of Molecular Neurogenetics, Department of Experimental Medical Science, Wallenberg Neuroscience Center and Lund Stem Cell Center, Lund, Sweden.
ORCID: 0000-0002-9421-7942

Diahann A M Atacho (DAM)

Laboratory of Molecular Neurogenetics, Department of Experimental Medical Science, Wallenberg Neuroscience Center and Lund Stem Cell Center, Lund, Sweden.
ORCID: 0000-0002-6158-0235

Antonina Kouli (A)

Wellcome-MRC Cambridge Stem Cell Institute and John Van Geest Centre for Brain Repair, Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.
ORCID: 0000-0001-6553-6154

Annelies Quaegebeur (A)

Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD 20815, USA.
Department of Clinical Neurosciences, University of Cambridge, Clifford Albutt Building, Cambridge, UK.

Roger A Barker (RA)

Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD 20815, USA.
Wellcome-MRC Cambridge Stem Cell Institute and John Van Geest Centre for Brain Repair, Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.
ORCID: 0000-0001-8843-7730

Elisabet Englund (E)

Department of Neuropathology, University of Lund, Lund, Sweden.
ORCID: 0000-0002-2708-2443

Frances Platt (F)

Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD 20815, USA.
Department of Pharmacology, University of Oxford, Oxford, UK.

Johan Jakobsson (J)

Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD 20815, USA.
Laboratory of Molecular Neurogenetics, Department of Experimental Medical Science, Wallenberg Neuroscience Center and Lund Stem Cell Center, Lund, Sweden.
ORCID: 0000-0003-0669-7673

Nicholas W Wood (NW)

Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD 20815, USA.
Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK.
ORCID: 0000-0002-9500-3348

Henry Houlden (H)

Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, UCL, London, UK.
ORCID: 0000-0002-2866-7777

Harpreet Saini (H)

Astex Pharmaceuticals, 436 Cambridge Science Park, Cambridge, UK.

Carla F Bento (CF)

Astex Pharmaceuticals, 436 Cambridge Science Park, Cambridge, UK.
ORCID: 0000-0001-8377-4543

John Hardy (J)

Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD 20815, USA.
Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, UK.
Reta Lila Weston Institute, UCL Queen Square Institute of Neurology, UCL, London, UK.
UK Dementia Research Institute at UCL, UCL Queen Square Institute of Neurology, UCL, London, UK.
NIHR University College London Hospitals Biomedical Research Centre, London, UK.
Institute for Advanced Study, The Hong Kong University of Science and Technology, Hong Kong SAR, China.
ORCID: 0000-0002-3122-0423

Mina Ryten (M)

Genetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London, UK.
Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD 20815, USA.
NIHR Great Ormond Street Hospital Biomedical Research Centre, University College London, London, UK.
ORCID: 0000-0001-9520-6957

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