Nature Communications (Oct 2022)
Deficiency of the frontotemporal dementia gene GRN results in gangliosidosis
- Sebastian Boland,
- Sharan Swarup,
- Yohannes A. Ambaw,
- Pedro C. Malia,
- Ruth C. Richards,
- Alexander W. Fischer,
- Shubham Singh,
- Geetika Aggarwal,
- Salvatore Spina,
- Alissa L. Nana,
- Lea T. Grinberg,
- William W. Seeley,
- Michal A. Surma,
- Christian Klose,
- Joao A. Paulo,
- Andrew D. Nguyen,
- J. Wade Harper,
- Tobias C. Walther,
- Robert V. Farese
Affiliations
- Sebastian Boland
- Department of Molecular Metabolism, Harvard T. H. Chan School of Public Health
- Sharan Swarup
- Department of Cell Biology, Harvard Medical School
- Yohannes A. Ambaw
- Department of Molecular Metabolism, Harvard T. H. Chan School of Public Health
- Pedro C. Malia
- Department of Molecular Metabolism, Harvard T. H. Chan School of Public Health
- Ruth C. Richards
- Department of Molecular Metabolism, Harvard T. H. Chan School of Public Health
- Alexander W. Fischer
- Department of Molecular Metabolism, Harvard T. H. Chan School of Public Health
- Shubham Singh
- Department of Molecular Metabolism, Harvard T. H. Chan School of Public Health
- Geetika Aggarwal
- Department of Internal Medicine, Division of Geriatric Medicine, and Department of Pharmacology and Physiology, Saint Louis University School of Medicine
- Salvatore Spina
- Department of Neurology, Memory and Aging Center, University of California, San Francisco
- Alissa L. Nana
- Department of Neurology, Memory and Aging Center, University of California, San Francisco
- Lea T. Grinberg
- Department of Neurology, Memory and Aging Center, University of California, San Francisco
- William W. Seeley
- Department of Neurology, Memory and Aging Center, University of California, San Francisco
- Michal A. Surma
- Lipotype GmbH
- Christian Klose
- Lipotype GmbH
- Joao A. Paulo
- Department of Cell Biology, Harvard Medical School
- Andrew D. Nguyen
- Department of Internal Medicine, Division of Geriatric Medicine, and Department of Pharmacology and Physiology, Saint Louis University School of Medicine
- J. Wade Harper
- Department of Cell Biology, Harvard Medical School
- Tobias C. Walther
- Department of Molecular Metabolism, Harvard T. H. Chan School of Public Health
- Robert V. Farese
- Department of Molecular Metabolism, Harvard T. H. Chan School of Public Health
- DOI
- https://doi.org/10.1038/s41467-022-33500-9
- Journal volume & issue
-
Vol. 13,
no. 1
pp. 1 – 13
Abstract
Progranulin-deficieny results in gangliosidosis due to reduced lysosomal lipids (BMP) required for ganglioside degradation. Lysosomal ganglioside accumulation may contribute to neuroinflammation and neurodegeneration susceptibility observed in FTD.
