Detalhe da pesquisa
1.
Recurrent de novo SPTLC2 variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis.
J Neurol Neurosurg Psychiatry
; 95(2): 103-113, 2024 Jan 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38041679
2.
SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia.
Brain
; 146(4): 1420-1435, 2023 04 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36718090
3.
The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment.
Neuropathol Appl Neurobiol
; 48(7): e12842, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35904184
4.
Elevation of 20-carbon long chain bases due to a mutation in serine palmitoyltransferase small subunit b results in neurodegeneration.
Proc Natl Acad Sci U S A
; 112(42): 12962-7, 2015 Oct 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-26438849
5.
Expression of the ORMDLS, modulators of serine palmitoyltransferase, is regulated by sphingolipids in mammalian cells.
J Biol Chem
; 290(1): 90-8, 2015 Jan 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-25395622
6.
Autophagy regulates sphingolipid levels in the liver.
J Lipid Res
; 55(12): 2521-31, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25332431
7.
Topological and functional characterization of the ssSPTs, small activating subunits of serine palmitoyltransferase.
J Biol Chem
; 288(14): 10144-10153, 2013 Apr 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-23426370
8.
Sphingolipids in the root play an important role in regulating the leaf ionome in Arabidopsis thaliana.
Plant Cell
; 23(3): 1061-81, 2011 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-21421810
9.
Collaborative regulation of yeast SPT-Orm2 complex by phosphorylation and ceramide.
Cell Rep
; 43(2): 113717, 2024 Feb 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38285738
10.
Mechanism of sphingolipid homeostasis revealed by structural analysis of Arabidopsis SPT-ORM1 complex.
Sci Adv
; 9(13): eadg0728, 2023 03 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-36989369
11.
Identification of small subunits of mammalian serine palmitoyltransferase that confer distinct acyl-CoA substrate specificities.
Proc Natl Acad Sci U S A
; 106(20): 8186-91, 2009 May 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-19416851
12.
A disease-causing mutation in the active site of serine palmitoyltransferase causes catalytic promiscuity.
J Biol Chem
; 285(30): 22846-52, 2010 Jul 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-20504773
13.
Structural insights into the regulation of human serine palmitoyltransferase complexes.
Nat Struct Mol Biol
; 28(3): 240-248, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33558761
14.
Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis.
Nat Med
; 27(7): 1197-1204, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-34059824
15.
Tsc10p and FVT1: topologically distinct short-chain reductases required for long-chain base synthesis in yeast and mammals.
J Lipid Res
; 50(8): 1630-40, 2009 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-19141869
16.
The ORMs interact with transmembrane domain 1 of Lcb1 and regulate serine palmitoyltransferase oligomerization, activity and localization.
Biochim Biophys Acta Mol Cell Biol Lipids
; 1864(3): 245-259, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30529276
17.
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.
Biomed Res Int
; 2013: 194371, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24175284
18.
Low-temperature effect on the sterol-dependent processing of SREBPs and transcription of related genes in HepG2 cells.
J Lipid Res
; 44(8): 1581-90, 2003 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-12754279
19.
The topology of the Lcb1p subunit of yeast serine palmitoyltransferase.
J Biol Chem
; 279(51): 53707-16, 2004 Dec 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-15485854