Sebastian Boland

Medicine · Health Sciences

18h-index1.6kcitations37works8.12yr avg
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Research Topics

Lysosomal Storage Disorders Research(8), Lipid metabolism and biosynthesis(7), Genetics, Aging, and Longevity in Model Organisms(5), Parkinson's Disease Mechanisms and Treatments(4), Cellular transport and secretion(4)

Publications37 total

The PROCEED study: A phase I/II dose-escalation investigation of systemic AAV9-based gene therapy for peripheral manifestations of Gaucher disease
Molecular Genetics and Metabolism·2026Open Access
Interim results from the PROVIDE Clinical Trial – A phase I/II Study of LY3884961(PR001) an AAV9-based gene therapy for type 2 Gaucher disease
Molecular Genetics and Metabolism·2026
Plasma lipidome dysregulation in frontotemporal dementia reveals shared, genotype‐specific, and severity‐linked alterations
Alzheimer s & Dementia·2025· 1 citedOpen Access
Plasma lipidome dysregulation in frontotemporal dementia reveals shared, genotype-specific, and severity-linked alterations
2025Open Access
A progranulin variant causing childhood interstitial lung disease responsive to anti-TNF-α biologic therapy
Med·2025Open Access
Progranulin AAV gene therapy for frontotemporal dementia: translational studies and phase 1/2 trial interim results
Nature Medicine·2024· 51 citedOpen Access
Transcriptional determinants of lipid mobilization in human adipocytes
Science Advances·2024· 5 citedOpen Access
Lipids as Emerging Biomarkers in Neurodegenerative Diseases
International Journal of Molecular Sciences·2023· 48 citedOpen Access
Deficiency of the frontotemporal dementia gene GRN results in gangliosidosis
Nature Communications·2022· 95 citedOpen Access
Deficiency of GRN, a frontotemporal dementia gene, results in gangliosidosis
Zenodo (CERN European Organization for Nuclear Research)·2022Open Access
Deficiency of GRN, a frontotemporal dementia gene, results in gangliosidosis
Zenodo (CERN European Organization for Nuclear Research)·2022Open Access
The Lipid Droplet Knowledge Portal: A resource for systematic analyses of lipid droplet biology
Developmental Cell·2022· 78 citedOpen Access
Progranulin deficiency results in reduced bis(monoacylglycero)phosphate (BMP) levels and gangliosidosis
2021· 1 citedOpen Access
The Lipid Droplet Knowledge Portal: A resource for systematic analyses of lipid droplet biology
2021· 8 citedOpen Access
Identification of Loss-of-Function Granulin Mutation as a New Cause of Childhood Interstitial Lung Disease Responsive to Anti-TNF-Alpha Biologics
2021Open Access
<i>APOE4</i> disrupts intracellular lipid homeostasis in human iPSC-derived glia
Science Translational Medicine·2021· 297 citedOpen Access
FIT2 is an acyl–coenzyme A diphosphatase crucial for endoplasmic reticulum homeostasis
The Journal of Cell Biology·2020· 61 citedOpen Access
Inhibition of sphingolipid synthesis improves outcomes and survival in GARP mutant <i>wobbler</i> mice, a model of motor neuron degeneration
Proceedings of the National Academy of Sciences·2020· 43 citedOpen Access
Hepatocyte Deletion of Triglyceride‐Synthesis Enzyme Acyl CoA: Diacylglycerol Acyltransferase 2 Reduces Steatosis Without Increasing Inflammation or Fibrosis in Mice
Hepatology·2019· 116 citedOpen Access
Probing the Global Cellular Responses to Lipotoxicity Caused by Saturated Fatty Acids
Molecular Cell·2019· 268 citedOpen Access
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Frequent Co-authors

Tobias C. Walther(14), Teymuras V. Kurzchalia(11), Robert V. Farese(9), Niklas Mejhert(7), Yohannes A. Ambaw(7), Hans‐Joachim Knölker(7), J. Wade Harper(6), Shubham Singh(6), João A. Paulo(5), Cihan Erkut(5), Robert V. Farese(5), Sharan Swarup(5), Sider Penkov(5), Chandramohan Chitraju(4), Katlyn R. Gabriel(4), Shane D. Elliott(4), Alexander W. Fischer(4), Geetika Aggarwal(4), Salvatore Spina(4), Alissa L. Nana(4)