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Museer A. Lone

University of Fribourg ·

Area of research

Molecular Biology · Cell Biology

Research interest

Research focused on Sphingolipid and Amyotrophic lateral sclerosis, with related work in Protein subunit, Composition (language), Homeostasis. Notable publications include 'Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis', 'Subunit composition of the mammalian serine-palmitoyltransferase defines the spectrum of straight and methyl-branched long-chain bases', and 'CERT1 mutations perturb human development by disrupting sphingolipid homeostasis'.

h-index

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citations

289

works

4

NIH funding

—

primary concept

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email

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Recent publications

CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

Journal of Clinical Investigation 2023cited by 42position: middledoi

Recurrent<i>de-novo gain-of-function</i>mutation in<i>SPTLC2</i>confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosis

Journal of Neurology Neurosurgery & Psychiatry 2023cited by 13position: middledoi

Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis

Nature Medicine 2021cited by 151position: middledoi

Subunit composition of the mammalian serine-palmitoyltransferase defines the spectrum of straight and methyl-branched long-chain bases

Proceedings of the National Academy of Sciences 2020cited by 83position: firstdoi

Grants

No grants ingested yet.

Frequent collaborators

Thorsten Hornemann · University Hospital of Zurich2 papers (2020–2023)Sitong Chen · Dalian Ocean University1 papers (2023–2023)Essa M. Saied · Suez Canal University1 papers (2020–2020)A. Nazlı Başak · University of Tübingen1 papers (2023–2023)Andreas J. Hülsmeier · University of Zurich1 papers (2020–2020)Maike F. Dohrn · RWTH Aachen University1 papers (2023–2023)Michael J. Lyons · Greenwood Genetic Center1 papers (2023–2023)— · 1 papers (2023–2023)Arnold von Eckardstein · University of Zurich1 papers (2020–2020)Sandra Donkervoort · Government of the United States of America1 papers (2023–2023)Stephan Züchner · University of Miami1 papers (2023–2023)Matthis Synofzik · University of Antwerp1 papers (2023–2023)— · 1 papers (2023–2023)Matt C. Danzi · University of Miami1 papers (2023–2023)— · 1 papers (2020–2020)Raymond J. Louie · Greenwood Genetic Center1 papers (2023–2023)— · 1 papers (2023–2023)Christoph Arenz · Suez Canal University1 papers (2020–2020)Carsten G. Bönnemann · National Institutes of Health1 papers (2023–2023)Rotem Orbach · National Institute of Neurological Disorders and Stroke1 papers (2023–2023)