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The annotation of G...
The annotation of GBA1 has been concealed by its protein-coding pseudogene GBAP1
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- Gustavsson, Emil K. (author)
- University College London
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- Sethi, Siddharth (author)
- Astex Pharmaceuticals
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- Gao, Yujing (author)
- Astex Pharmaceuticals
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show more...
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- Brenton, Jonathan W. (author)
- University College London
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- García-Ruiz, Sonia (author)
- University College London
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- Zhang, David (author)
- University College London
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- Garza, Raquel (author)
- Lund University,Lunds universitet,Molekylär neurogenetik,Forskargrupper vid Lunds universitet,Molecular Neurogenetics,Lund University Research Groups
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- Reynolds, Regina H. (author)
- University College London
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- Evans, James R. (author)
- University College London
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- Chen, Zhongbo (author)
- University College London
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- Grant-Peters, Melissa (author)
- University College London
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Macpherson, Hannah (author)
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Montgomery, Kylie (author)
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Dore, Rhys (author)
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Wernick, Anna i. (author)
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Arber, Charles (author)
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Wray, Selina (author)
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Gandhi, Sonia (author)
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Esselborn, Julian (author)
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Blauwendraat, Cornelis (author)
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- Douse, Christopher H. (author)
- Lund University,Lunds universitet,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,Epigenetik och kromatindynamik,Forskargrupper vid Lunds universitet,LUCC: Lund University Cancer Centre,Other Strong Research Environments,Epigenetics and Chromatin Dynamics,Lund University Research Groups
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- Adami, Anita (author)
- Lund University,Lunds universitet,Molekylär neurogenetik,Forskargrupper vid Lunds universitet,Molecular Neurogenetics,Lund University Research Groups
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- Atacho, Diahann A. M. (author)
- Lund University,Lunds universitet,Molekylär neurogenetik,Forskargrupper vid Lunds universitet,Molecular Neurogenetics,Lund University Research Groups
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Kouli, Antonina (author)
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Quaegebeur, Annelies (author)
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- Barker, Roger A. (author)
- University of Cambridge
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- Englund, Elisabet (author)
- Lund University,Lunds universitet,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,Patologi, Lund,Sektion V,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,LUCC: Lund University Cancer Centre,Other Strong Research Environments,Pathology, Lund,Section V,Department of Clinical Sciences, Lund,Faculty of Medicine
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Platt, Frances (author)
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- Jakobsson, Johan (author)
- Lund University,Lunds universitet,Molekylär neurogenetik,Forskargrupper vid Lunds universitet,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,Molecular Neurogenetics,Lund University Research Groups,LUCC: Lund University Cancer Centre,Other Strong Research Environments,Aligning Science Across Parkinson's (ASAP) Collaborative Research Network
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Wood, Nicholas W. (author)
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Houlden, Henry (author)
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Saini, Harpreet (author)
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Bento, Carla F. (author)
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Hardy, John (author)
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Ryten, Mina (author)
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(creator_code:org_t)
- 2024
- 2024
- English.
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In: Science Advances. - 2375-2548. ; 10:26, s. 1-20
- Related links:
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http://dx.doi.org/10... (free)
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https://lup.lub.lu.s...
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https://doi.org/10.1...
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Abstract
Subject headings
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- Mutations in GBA1 cause Gaucher disease and are the most important genetic risk factor for Parkinson’s disease. However, analysis of transcription at this locus is complicated by its highly homologous pseudogene, GBAP1. We show that >50% of short RNA-sequencing reads mapping to GBA1 also map to GBAP1. Thus, we used long-read RNA sequencing in the human brain, which allowed us to accurately quantify expression from both GBA1 and GBAP1. We discovered significant differences in expression compared to short-read data and identify currently unannotated transcripts of both GBA1 and GBAP1. These included protein-coding transcripts from both genes that were translated in human brain, but without the known lysosomal function—yet accounting for almost a third of transcription. Analyzing brain-specific cell types using long-read and single-nucleus RNA sequencing revealed region-specific variations in transcript expression. Overall, these findings suggest nonlysosomal roles for GBA1 and GBAP1 with implications for our understanding of the role of GBA1 in health and disease.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Publication and Content Type
- art (subject category)
- ref (subject category)
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- By the author/editor
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Gustavsson, Emil ...
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Sethi, Siddharth
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Gao, Yujing
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Brenton, Jonatha ...
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García-Ruiz, Son ...
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Zhang, David
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show more...
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Garza, Raquel
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Reynolds, Regina ...
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Evans, James R.
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Chen, Zhongbo
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Grant-Peters, Me ...
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Macpherson, Hann ...
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Montgomery, Kyli ...
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Dore, Rhys
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Wernick, Anna i.
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Arber, Charles
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Wray, Selina
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Gandhi, Sonia
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Esselborn, Julia ...
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Blauwendraat, Co ...
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Douse, Christoph ...
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Adami, Anita
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Atacho, Diahann ...
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Kouli, Antonina
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Quaegebeur, Anne ...
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Barker, Roger A.
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Englund, Elisabe ...
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Platt, Frances
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Jakobsson, Johan
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Wood, Nicholas W ...
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Houlden, Henry
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Saini, Harpreet
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Bento, Carla F.
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Hardy, John
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Ryten, Mina
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
- Articles in the publication
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Science Advances
- By the university
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Lund University