Detalles de la búsqueda
1.
Inhibition of SRGAP2 function by its human-specific paralogs induces neoteny during spine maturation.
Cell;
149(4): 923-35, 2012 May 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-22559944
2.
The F-BAR domain of srGAP2 induces membrane protrusions required for neuronal migration and morphogenesis.
Cell;
138(5): 990-1004, 2009 Sep 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-19737524
3.
Neural symptoms in a gene knockout mouse model of Sjögren-Larsson syndrome are associated with a decrease in 2-hydroxygalactosylceramide.
FASEB J;
33(1): 928-941, 2019 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-30085884
4.
De novo mutation in ELOVL1 causes ichthyosis, acanthosis nigricans, hypomyelination, spastic paraplegia, high frequency deafness and optic atrophy.
J Med Genet;
56(3): 164-175, 2019 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-30487246
5.
Very long-chain tear film lipids produced by fatty acid elongase ELOVL1 prevent dry eye disease in mice.
FASEB J;
32(6): 2966-2978, 2018 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-29401594
6.
The 3-hydroxyacyl-CoA dehydratases HACD1 and HACD2 exhibit functional redundancy and are active in a wide range of fatty acid elongation pathways.
J Biol Chem;
292(37): 15538-15551, 2017 09 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-28784662
7.
Enzyme Activities of the Ceramide Synthases CERS2-6 Are Regulated by Phosphorylation in the C-terminal Region.
J Biol Chem;
291(14): 7477-87, 2016 Apr 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-26887952
8.
Disruption of the Sjögren-Larsson Syndrome Gene Aldh3a2 in Mice Increases Keratinocyte Growth and Retards Skin Barrier Recovery.
J Biol Chem;
291(22): 11676-88, 2016 May 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-27053112
9.
Lorenzo's oil inhibits ELOVL1 and lowers the level of sphingomyelin with a saturated very long-chain fatty acid.
J Lipid Res;
55(3): 524-30, 2014 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-24489110
10.
Mutation for nonsyndromic mental retardation in the trans-2-enoyl-CoA reductase TER gene involved in fatty acid elongation impairs the enzyme activity and stability, leading to change in sphingolipid profile.
J Biol Chem;
288(51): 36741-9, 2013 Dec 20.
Artículo
en Inglés
| MEDLINE | ID: mdl-24220030
11.
Comparison of skin barrier abnormalities and epidermal ceramide profiles among three ω-O-acylceramide synthesis-deficient mouse strains.
J Dermatol Sci;
113(1): 10-17, 2024 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-38158274
12.
A shift in sphingolipid composition from C24 to C16 increases susceptibility to apoptosis in HeLa cells.
Biochim Biophys Acta;
1821(7): 1031-7, 2012 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-22579584
13.
The role of human-specific gene duplications during brain development and evolution.
J Neurogenet;
27(3): 86-96, 2013 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-23782070
14.
ELOVL1 production of C24 acyl-CoAs is linked to C24 sphingolipid synthesis.
Proc Natl Acad Sci U S A;
107(43): 18439-44, 2010 Oct 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-20937905
15.
Involvement of ω-O-acylceramides and protein-bound ceramides in oral permeability barrier formation.
Cell Rep;
42(4): 112363, 2023 04 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-37054712
16.
Incomplete Elongation of Ultra-long-chain Polyunsaturated Acyl-CoAs by the Fatty Acid Elongase ELOVL4 in Spinocerebellar Ataxia Type 34.
Mol Cell Biol;
: 1-17, 2023 Feb 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-36748939
17.
Ceramide profiling of stratum corneum in Sjögren-Larsson syndrome.
J Dermatol Sci;
107(3): 114-122, 2022 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-35973883
18.
Hypomyelinating spastic dyskinesia and ichthyosis caused by a homozygous splice site mutation leading to exon skipping in ELOVL1.
Brain Dev;
44(6): 391-400, 2022 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-35379526
19.
Topography of thalamic projections requires attractive and repulsive functions of Netrin-1 in the ventral telencephalon.
PLoS Biol;
6(5): e116, 2008 May 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-18479186
20.
Production of branched-chain very-long-chain fatty acids by fatty acid elongases and their tissue distribution in mammals.
Biochim Biophys Acta Mol Cell Biol Lipids;
1866(1): 158842, 2021 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-33069870