Detalhe da pesquisa
1.
The murine retinal pigment epithelium requires peroxisomal ß-oxidation to maintain lysosomal function and prevent dedifferentiation.
Proc Natl Acad Sci U S A
; 120(43): e2301733120, 2023 Oct 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-37862382
2.
Tracer-based lipidomics enables the discovery of disease-specific candidate biomarkers in mitochondrial ß-oxidation disorders.
FASEB J
; 38(4): e23478, 2024 Feb 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38372965
3.
Diacylglycerols and Lysophosphatidic Acid, Enriched on Lipoprotein(a), Contribute to Monocyte Inflammation.
Arterioscler Thromb Vasc Biol
; 44(3): 720-740, 2024 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38269588
4.
The Plasma Lipidomic Landscape in Patients with Sepsis due to Community-acquired Pneumonia.
Am J Respir Crit Care Med
; 209(8): 973-986, 2024 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38240721
5.
Four-dimensional Lipidomics Profiling in X-linked Adrenoleukodystrophy using Trapped Ion Mobility Mass Spectrometry.
J Lipid Res
; : 100567, 2024 May 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-38795862
6.
Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease.
Hum Mol Genet
; 31(21): 3597-3612, 2022 10 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35147173
7.
ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies.
Am J Hum Genet
; 108(10): 2017-2023, 2021 10 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34587489
8.
Long-term efficacy and safety of elamipretide in patients with Barth syndrome: 168-week open-label extension results of TAZPOWER.
Genet Med
; 26(7): 101138, 2024 Apr 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38602181
9.
CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders.
Genet Med
; 26(6): 101104, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38411040
10.
PCYT2 deficiency in Saarlooswolfdogs with progressive retinal, central, and peripheral neurodegeneration.
Mol Genet Metab
; 141(3): 108149, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38277988
11.
Disorders of fatty acid homeostasis.
J Inherit Metab Dis
; 2024 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38693715
12.
The plasma kynurenine-to-tryptophan ratio as a biomarker of tuberculosis disease in people living with HIV on antiretroviral therapy: an exploratory nested case-control study.
BMC Infect Dis
; 24(1): 372, 2024 Apr 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38565993
13.
Sterol-regulated transmembrane protein TMEM86a couples LXR signaling to regulation of lysoplasmalogens in macrophages.
J Lipid Res
; 64(2): 100325, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36592658
14.
Integrative Analysis of the Inflammatory Bowel Disease Serum Metabolome Improves Our Understanding of Genetic Etiology and Points to Novel Putative Therapeutic Targets.
Gastroenterology
; 162(3): 828-843.e11, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34780722
15.
Time-restricted feeding during the inactive phase abolishes the daily rhythm in mitochondrial respiration in rat skeletal muscle.
FASEB J
; 36(2): e22133, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35032416
16.
Acyl-CoA dehydrogenase substrate promiscuity: Challenges and opportunities for development of substrate reduction therapy in disorders of valine and isoleucine metabolism.
J Inherit Metab Dis
; 46(5): 931-942, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37309295
17.
Sex-specific newborn screening for X-linked adrenoleukodystrophy.
J Inherit Metab Dis
; 46(1): 116-128, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36256460
18.
Indoleamine 2,3-dioxygenase (IDO)-1 and IDO-2 activity and severe course of COVID-19.
J Pathol
; 256(3): 256-261, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34859884
19.
Adaptations of the 3T3-L1 adipocyte lipidome to defective ether lipid catabolism upon Agmo knockdown.
J Lipid Res
; 63(6): 100222, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35537527
20.
Work and oxygen consumption of isolated right ventricular papillary muscle in experimental pulmonary hypertension.
J Physiol
; 600(20): 4465-4484, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35993114