(Q42663096)

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The pyridoxal 5'-phosphate (PLP)-dependent enzyme serine palmitoyltransferase (SPT): effects of the small subunits and insights from bacterial mimics of human hLCB2a HSAN1 mutations

scientific article published on 23 September 2013

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28 February 2020

The pyridoxal 5'-phosphate (PLP)-dependent enzyme serine palmitoyltransferase (SPT): effects of the small subunits and insights from bacterial mimics of human hLCB2a HSAN1 mutations (English)

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28 February 2020

Lenka Franková

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28 February 2020

Agne Kazlauskaite

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28 February 2020

Dominic J Campopiano

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28 February 2020

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Ashley E Beattie

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28 February 2020

Sita D Gupta

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28 February 2020

Jeffrey M Harmon

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28 February 2020

Teresa M Dunn

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28 February 2020

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23 September 2013

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28 February 2020

BioMed Research International

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28 February 2020

2013

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28 February 2020

194371

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28 February 2020

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1 January 2013

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Hereditary sensory and autonomic neuropathy type 1 (HSANI) caused by a novel mutation in SPTLC2.

1 reference

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Oral L-serine supplementation reduces production of neurotoxic deoxysphingolipids in mice and humans with hereditary sensory autonomic neuropathy type 1.

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Role of a conserved arginine residue during catalysis in serine palmitoyltransferase

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Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I

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27 May 2018

A disease-causing mutation in the active site of serine palmitoyltransferase causes catalytic promiscuity

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27 May 2018

Orm1 and Orm2 are conserved endoplasmic reticulum membrane proteins regulating lipid homeostasis and protein quality control

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27 May 2018

Orm family proteins mediate sphingolipid homeostasis

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27 May 2018

Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids

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27 May 2018

Overexpression of the wild-type SPT1 subunit lowers desoxysphingolipid levels and rescues the phenotype of HSAN1

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The SPTLC3 subunit of serine palmitoyltransferase generates short chain sphingoid bases

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Identification of small subunits of mammalian serine palmitoyltransferase that confer distinct acyl-CoA substrate specificities

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A systematic comparison of all mutations in hereditary sensory neuropathy type I (HSAN I) reveals that the G387A mutation is not disease associated

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10.1155/2013/194371

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28 February 2020

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28 February 2020

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28 February 2020

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