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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 08 Dec 2016.

Serine palmitoyltransferase, long chain base subunit 1

serine palmitoyltransferase, Serine C-Palmitoyltransferase, HSAN, SPTLC1
Serine palmitoyltransferase, which consists of two different subunits, is the key enzyme in sphingolipid biosynthesis. It converts L-serine and palmitoyl-CoA to 3-oxosphinganine with pyridoxal 5'-phosphate as a cofactor. The product of this gene is the long chain base subunit 1 of serine palmitoyltransferase. Mutations in this gene were identified in patients with hereditary sensory neuropathy type 1. Alternatively spliced variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: ACID, STEP, HAD, V1a, CAN
Papers on serine palmitoyltransferase
Inhibition of ceramide de novo synthesis as a postischemic strategy to reduce myocardial reperfusion injury.
New
Signorelli et al., Milano, Italy. In Basic Res Cardiol, Mar 2016
This correlates with the enhanced expression of the first and rate-limiting enzyme of the de novo pathway, serine palmitoyltransferase (SPT).
HSAN1 mutations in serine palmitoyltransferase reveal a close structure-function-phenotype relationship.
New
Hornemann et al., Zürich, Switzerland. In Hum Mol Genet, Jan 2016
UNASSIGNED: Hereditary sensory and autonomic neuropathy type 1 (HSAN1) is a rare autosomal dominant inherited peripheral neuropathy caused by mutations in the SPTLC1 and SPTLC2 subunits of serine palmitoyltransferase (SPT).
Regulation of sphingolipid biosynthesis by the morphogenesis checkpoint kinase Swe1.
New
Kohlwein et al., United States. In J Biol Chem, Jan 2016
Deletion of the Swe1 kinase renders mutant cells sensitive to serine palmitoyltransferase inhibition due to impaired sphingoid long-chain base synthesis.
Implications of a peroxisome proliferator-activated receptor alpha (PPARα) ligand clofibrate in breast cancer.
New
Sharma-Walia et al., North Chicago, United States. In Oncotarget, Dec 2015
Surprisingly, the expression of lipogenic pathway genes including SREBP-1c (sterol regulatory element-binding protein-1c), HMG-CoA synthase, SPTLC1 (serine palmitoyltransferase long-chain), and Acyl-CoA oxidase (ACO) decreased with a concurrent increase in fatty acid oxidation genes such as CPT-1a (carnitine palmitoyltransferase 1a) and SREBP-2 (Sterol regulatory element-binding protein-2).
The Variant p.(Arg183Trp) in SPTLC2 Causes Late-Onset Hereditary Sensory Neuropathy.
New
Ylikallio et al., Zürich, Switzerland. In Neuromolecular Med, Dec 2015
UNASSIGNED: Hereditary sensory and autonomic neuropathy 1 (HSAN1) is an autosomal dominant disorder that can be caused by variants in SPTLC1 or SPTLC2, encoding subunits of serine palmitoyl-CoA transferase.
Nogo-B regulates endothelial sphingolipid homeostasis to control vascular function and blood pressure.
New
Impact
Di Lorenzo et al., New York City, United States. In Nat Med, Sep 2015
Nogo-B inhibits serine palmitoyltransferase, the rate-limiting enzyme of the de novo sphingolipid biosynthetic pathway, thereby controlling production of endothelial sphingosine 1-phosphate and autocrine, G protein-coupled receptor-dependent signaling by this metabolite.
1-Deoxysphingolipids Encountered Exogenously and Made de Novo: Dangerous Mysteries inside an Enigma.
Review
New
Merrill et al., Atlanta, United States. In J Biol Chem, Jul 2015
The traditional backbones of mammalian sphingolipids are 2-amino, 1,3-diols made by serine palmitoyltransferase (SPT).
Mitochondrial dynamics and inherited peripheral nerve diseases.
Review
New
Piscosquito et al., Milano, Italy. In Neurosci Lett, Jul 2015
Mutations in several proteins fundamental for the axonal transport or forming the axonal cytoskeleton result in peripheral neuropathy, i.e., CMT, distal hereditary motor neuropathy (dHMN) or hereditary sensory and autonomic neuropathy (HSAN), as well as in hereditary spastic paraplegia.
The shifting paradigm of Charcot-Marie-Tooth disease.
Review
New
Echaniz-Laguna, Strasbourg, France. In Rev Neurol (paris), Jun 2015
The phenotypic spectrum of CMT overlaps with other inherited neuropathies such as distal hereditary motor neuropathy (dHMN), hereditary sensory and autonomic neuropathy (HSAN), spinal muscular atrophy (SMA) subtypes, and the neuropathies of mitochondrial disorders.
Regulation of de novo sphingolipid biosynthesis by the ORMDL proteins and sphingosine kinase-1.
Review
Wattenberg et al., Louisville, United States. In Adv Biol Regul, 2015
Here we examine control of the initiating, and rate limiting, enzyme in sphingolipid biosynthesis, serine palmitoyltransferase (SPT).
The consequences of genetic and pharmacologic reduction in sphingolipid synthesis.
Review
Schiffmann, Dallas, United States. In J Inherit Metab Dis, 2015
Complete synthetic blockage may be lethal if it includes all sphingolipids, such as in a global knockout of serine palmitoyltransferase. Partial inhibition of sphingolipid synthetic pathways is usually benign and may have beneficial effects in a number of lysosomal diseases and in more common pathologies, as seen in animal models for atherosclerosis, polycystic kidney disease, diabetes, and asthma.
Characterization of two mutations in the SPTLC1 subunit of serine palmitoyltransferase associated with hereditary sensory and autonomic neuropathy type I.
GeneRIF
Janssens et al., Antwerp, Belgium. In Hum Mutat, 2011
SPTLC1 mutations p.S331F and p.A352V result in a reduction of serine palmitoyltransferase activity in vitro and are associated with increased levels of the deoxysphingoid in patients' plasma samples.
Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids.
GeneRIF
Hornemann et al., Zürich, Switzerland. In J Biol Chem, 2010
Hereditary sensory neuropathy type 1 is caused by a gain of function mutation in SPTLC1 which causes the accumulation of two neurotoxic sphingolipids
Orm family proteins mediate sphingolipid homeostasis.
Impact
Weissman et al., San Francisco, United States. In Nature, 2010
Starting from an unbiased functional genomic approach in Saccharomyces cerevisiae, we identify Orm proteins as negative regulators of sphingolipid synthesis that form a conserved complex with serine palmitoyltransferase, the first and rate-limiting enzyme in sphingolipid production.
Overexpression of the wild-type SPT1 subunit lowers desoxysphingolipid levels and rescues the phenotype of HSAN1.
GeneRIF
Brown et al., Boston, United States. In J Neurosci, 2009
Adult-onset hereditary sensory and autonomic neuropathy type (HSAN)I is the hypothetical result of a gain-of-function mutation in SPTLC1 that leads to accumulation of a toxic metabolite.
Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy.
Impact
Hübner et al., Hamburg, Germany. In Nat Genet, 2009
Hereditary sensory and autonomic neuropathy type II (HSAN II) leads to severe mutilations because of impaired nociception and autonomic dysfunction.
Cell polarity factor Par3 binds SPTLC1 and modulates monocyte serine palmitoyltransferase activity and chemotaxis.
GeneRIF
Fitzgerald et al., Boston, United States. In J Biol Chem, 2009
Cell polarity factor Par3 binds SPTLC1 and modulates monocyte serine palmitoyltransferase activity and chemotaxis
Identification of small subunits of mammalian serine palmitoyltransferase that confer distinct acyl-CoA substrate specificities.
GeneRIF
Dunn et al., Bethesda, United States. In Proc Natl Acad Sci U S A, 2009
discovery of 2 proteins, ssSPTa and ssSPTb, which each interacts with both hLCB1 and hLCB2, suggesting that there are 4 distinct human SPT isozymes.
SPTLC1 is mutated in hereditary sensory neuropathy, type 1.
Impact
Brown et al., United States. In Nat Genet, 2001
We report here that the gene encoding a subunit of serine palmitoyltransferase is located within the HSN1 locus, expressed in dorsal root ganglia (DRG) and mutated in HSN1.
Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I.
Impact
Nicholson et al., Sydney, Australia. In Nat Genet, 2001
Here we map the gene SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, to this locus.
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