Detalhe da pesquisa
1.
CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders.
Genet Med
; 26(6): 101104, 2024 Feb 24.
Artigo
Inglês
| MEDLINE | ID: mdl-38411040
2.
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
Inglês
| MEDLINE | ID: mdl-35032416
3.
Interplay between metabolic identities in the intestinal crypt supports stem cell function.
Nature
; 543(7645): 424-427, 2017 03 16.
Artigo
Inglês
| MEDLINE | ID: mdl-28273069
4.
Adaptations of the 3T3-L1 adipocyte lipidome to defective ether lipid catabolism upon Agmo knockdown.
J Lipid Res
; 63(6): 100222, 2022 06.
Artigo
Inglês
| MEDLINE | ID: mdl-35537527
5.
Circadian misalignment disturbs the skeletal muscle lipidome in healthy young men.
FASEB J
; 35(6): e21611, 2021 06.
Artigo
Inglês
| MEDLINE | ID: mdl-33977623
6.
Multi-omics in classical galactosemia: Evidence for the involvement of multiple metabolic pathways.
J Inherit Metab Dis
; 45(6): 1094-1105, 2022 11.
Artigo
Inglês
| MEDLINE | ID: mdl-36053831
7.
An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.
Genet Med
; 23(4): 740-750, 2021 04.
Artigo
Inglês
| MEDLINE | ID: mdl-33239752
8.
MetaboShiny: interactive analysis and metabolite annotation of mass spectrometry-based metabolomics data.
Metabolomics
; 16(9): 99, 2020 09 11.
Artigo
Inglês
| MEDLINE | ID: mdl-32915321
9.
Disturbed brain ether lipid metabolism and histology in Sjögren-Larsson syndrome.
J Inherit Metab Dis
; 43(6): 1265-1278, 2020 11.
Artigo
Inglês
| MEDLINE | ID: mdl-32557630
10.
Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia.
Brain
; 142(11): 3382-3397, 2019 11 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31637422
11.
Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes.
J Inherit Metab Dis
; 42(3): 414-423, 2019 05.
Artigo
Inglês
| MEDLINE | ID: mdl-30761551
12.
Defining functional classes of Barth syndrome mutation in humans.
Hum Mol Genet
; 25(9): 1754-70, 2016 05 01.
Artigo
Inglês
| MEDLINE | ID: mdl-26908608
13.
CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder.
Am J Hum Genet
; 96(2): 245-57, 2015 Feb 05.
Artigo
Inglês
| MEDLINE | ID: mdl-25597510
14.
Functional characterisation of peroxisomal ß-oxidation disorders in fibroblasts using lipidomics.
J Inherit Metab Dis
; 41(3): 479-487, 2018 05.
Artigo
Inglês
| MEDLINE | ID: mdl-28849344
15.
Plasma lipidomics as a diagnostic tool for peroxisomal disorders.
J Inherit Metab Dis
; 41(3): 489-498, 2018 05.
Artigo
Inglês
| MEDLINE | ID: mdl-29209936
16.
Vitamin B6 is essential for serine de novo biosynthesis.
J Inherit Metab Dis
; 40(6): 883-891, 2017 11.
Artigo
Inglês
| MEDLINE | ID: mdl-28801717
17.
Lipidomic analysis of fibroblasts from Zellweger spectrum disorder patients identifies disease-specific phospholipid ratios.
J Lipid Res
; 57(8): 1447-54, 2016 08.
Artigo
Inglês
| MEDLINE | ID: mdl-27284103
18.
Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.
Genet Med
; 23(12): 2467, 2021 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-34667295
19.
Allosteric inhibition of the neuropeptidase neurolysin.
J Biol Chem
; 289(51): 35605-19, 2014 Dec 19.
Artigo
Inglês
| MEDLINE | ID: mdl-25378390
20.
Principles and practice of lipidomics.
J Inherit Metab Dis
; 38(1): 41-52, 2015 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-25409862