Detalhe da pesquisa
1.
A new type of blood-brain barrier aminoacidopathy underlies metabolic microcephaly associated with SLC1A4 mutations.
Brain
; 2024 Apr 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-38662784
2.
Recurrent de-novo gain-of-function mutation in SPTLC2 confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosis.
J Neurol Neurosurg Psychiatry
; 95(3): 201-205, 2024 Feb 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38041684
3.
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
4.
Serine deficiency causes complications in diabetes.
Nature
; 614(7946): 42-43, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36697725
5.
The atypical sphingolipid SPB 18:1(14Z);O2 is a biomarker for DEGS1 related hypomyelinating leukodystrophy.
J Lipid Res
; 64(12): 100464, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37890668
6.
Normalization of lipid oxidation defects arising from hypoxia early posthepatectomy prevents liver failure in mouse.
Am J Transplant
; 23(2): 190-201, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36804129
7.
Treatment with recombinant Sirt1 rewires the cardiac lipidome and rescues diabetes-related metabolic cardiomyopathy.
Cardiovasc Diabetol
; 22(1): 312, 2023 11 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-37957697
8.
Subunit composition of the mammalian serine-palmitoyltransferase defines the spectrum of straight and methyl-branched long-chain bases.
Proc Natl Acad Sci U S A
; 117(27): 15591-15598, 2020 07 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32576697
9.
Plasma Sphingoid Base Profiles of Patients Diagnosed with Intrinsic or Idiosyncratic Drug-induced Liver Injury.
Int J Mol Sci
; 24(3)2023 Feb 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36769329
10.
Precision mouse models of Yars/dominant intermediate Charcot-Marie-Tooth disease type C and Sptlc1/hereditary sensory and autonomic neuropathy type 1.
J Anat
; 241(5): 1169-1185, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34875719
11.
Lipidomics in Biomarker Research.
Handb Exp Pharmacol
; 270: 493-510, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-34409495
12.
Serine Palmitoyltransferase Subunit 3 and Metabolic Diseases.
Adv Exp Med Biol
; 1372: 47-56, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35503173
13.
Discovery and Mechanism of Action of Small Molecule Inhibitors of Ceramidases.
Angew Chem Int Ed Engl
; 61(2): e202109967, 2022 01 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34668624
14.
Metabolism of HSAN1- and T2DM-associated 1-deoxy-sphingolipids inhibits the migration of fibroblasts.
J Lipid Res
; 62: 100122, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34563520
15.
FADS3 is a Δ14Z sphingoid base desaturase that contributes to gender differences in the human plasma sphingolipidome.
J Biol Chem
; 295(7): 1889-1897, 2020 02 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-31862735
16.
Macrophage NCOR1 protects from atherosclerosis by repressing a pro-atherogenic PPARγ signature.
Eur Heart J
; 41(9): 995-1005, 2020 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31529020
17.
Serine administration as a novel prophylactic approach to reduce the severity of acute pancreatitis during diabetes in mice.
Diabetologia
; 63(9): 1885-1899, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32385601
18.
Simple Targeted Assays for Metabolic Pathways and Signaling: A Powerful Tool for Targeted Proteomics.
Anal Chem
; 92(20): 13672-13676, 2020 10 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-32865986
19.
Farnesoid X receptor activation induces the degradation of hepatotoxic 1-deoxysphingolipids in non-alcoholic fatty liver disease.
Liver Int
; 40(4): 844-859, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31883408
20.
Obesity-induced activation of JunD promotes myocardial lipid accumulation and metabolic cardiomyopathy.
Eur Heart J
; 40(12): 997-1008, 2019 03 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-30629164