Concepedia

Hereditary sensory neuropathy type 1-associated deoxysphingolipids cause neurotoxicity, acute calcium handling abnormalities and mitochondrial dysfunction in vitro

Emma R. Wilson, Umaiyal Kugathasan, Andrey Y. Abramov, Alex Clark, David Bennett, Mary M. Reilly, Linda Greensmith, Bernadett Kalmár

Neurobiology of Disease · 2018 · 49 citations · 44 references

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Concepts

Abstract

handling deficits, which may play a critical role in the pathogenesis of HSN-1.

References

44

Molecular characterization of mitochondrial apoptosis-inducing factor

Santos A. Susín, Hans Kristian Lorenzo, Naoufal Zamzami et al. · Nature · 1999 · 4K citations

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Structural and functional features and significance of the physical linkage between ER and mitochondria

György Csordás, Christian Renken, Péter Várnai et al. · The Journal of Cell Biology · 2006 · 1.3K citations · Full text

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Mitochondrial Release of Caspase-2 and -9 during the Apoptotic Process

Santos A. Susín, Hans Kristian Lorenzo, Naoufal Zamzami et al. · The Journal of Experimental Medicine · 1999 · 719 citations · Full text

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Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I

Jennifer L. Dawkins, D J Hulme, Sonal Brahmbhatt et al. · Nature Genetics · 2001 · 422 citations

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Hereditary Sensory Neuropathy Type 1 Is Caused by the Accumulation of Two Neurotoxic Sphingolipids

Anke Penno, Mary M. Reilly, Henry Houlden et al. · Journal of Biological Chemistry · 2010 · 378 citations · Full text

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