Detalhe da pesquisa
1.
Disruption of polyunsaturated fatty acid biosynthesis drives STING-dependent acute myeloid leukemia cell maturation and death.
J Biol Chem
; 300(5): 107214, 2024 Mar 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38522521
2.
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
3.
VUS: Variant of uncertain significance or very unclear situation?
Mol Genet Metab
; 140(1-2): 107678, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37574344
4.
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
5.
Saturated very long-chain fatty acids regulate macrophage plasticity and invasiveness.
J Neuroinflammation
; 19(1): 305, 2022 Dec 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-36528616
6.
iBRET Screen of the ABCD1 Peroxisomal Network and Mutation-Induced Network Perturbations.
J Proteome Res
; 20(9): 4366-4380, 2021 09 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34383492
7.
Evolution of adrenoleukodystrophy model systems.
J Inherit Metab Dis
; 44(3): 544-553, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33373044
8.
MRI surveillance of boys with X-linked adrenoleukodystrophy identified by newborn screening: Meta-analysis and consensus guidelines.
J Inherit Metab Dis
; 44(3): 728-739, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33373467
9.
Spinal cord atrophy as a measure of severity of myelopathy in adrenoleukodystrophy.
J Inherit Metab Dis
; 43(4): 852-860, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32077106
10.
Progression of myelopathy in males with adrenoleukodystrophy: towards clinical trial readiness.
Brain
; 142(2): 334-343, 2019 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30535170
11.
Translational Metabolism: A multidisciplinary approach towards precision diagnosis of inborn errors of metabolism in the omics era.
J Inherit Metab Dis
; 42(2): 197-208, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30723938
12.
CYP4F2 affects phenotypic outcome in adrenoleukodystrophy by modulating the clearance of very long-chain fatty acids.
Biochim Biophys Acta
; 1862(10): 1861-70, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27425035
13.
Lipid-induced endoplasmic reticulum stress in X-linked adrenoleukodystrophy.
Biochim Biophys Acta Mol Basis Dis
; 1863(9): 2255-2265, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28666219
14.
Comparison of C26:0-carnitine and C26:0-lysophosphatidylcholine as diagnostic markers in dried blood spots from newborns and patients with adrenoleukodystrophy.
Mol Genet Metab
; 122(4): 209-215, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29089175
15.
Enzymatic characterization of ELOVL1, a key enzyme in very long-chain fatty acid synthesis.
Biochim Biophys Acta
; 1851(2): 231-7, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25499606
16.
Pathogenicity of novel ABCD1 variants: The need for biochemical testing in the era of advanced genetics.
Mol Genet Metab
; 118(2): 123-7, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27067449
17.
The variability conundrum in neurometabolic degenerative diseases.
Mol Genet Metab
; 131(4): 367-369, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33246824
18.
Hematopoietic cell transplantation does not prevent myelopathy in X-linked adrenoleukodystrophy: a retrospective study.
J Inherit Metab Dis
; 38(2): 359-61, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25488625
19.
X-linked adrenoleukodystrophy in women: a cross-sectional cohort study.
Brain
; 137(Pt 3): 693-706, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24480483
20.
Peroxisomes: new insights into protein sorting, dynamics, quality control, signalling and roles in health and disease.
Histochem Cell Biol
; 151(4): 283-289, 2019 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-30927066