Detalhe da pesquisa
1.
Biochemical signatures of disease severity in multiple sulfatase deficiency.
J Inherit Metab Dis
; 47(2): 374-386, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37870986
2.
New mouse models with hypomorphic SUMF1 variants mimic attenuated forms of multiple sulfatase deficiency.
J Inherit Metab Dis
; 46(2): 335-347, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36433920
3.
Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra-rare disease.
J Inherit Metab Dis
; 43(6): 1298-1309, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32749716
4.
Multiple Sulfatase Deficiency: A Disease Comprising Mucopolysaccharidosis, Sphingolipidosis, and More Caused by a Defect in Posttranslational Modification.
Int J Mol Sci
; 21(10)2020 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-32414121
5.
Comparative Study of Antifungal Efficacy of Various Endodontic Irrigants with and without Clotrimazole in Extracted Teeth Inoculated with Candida albicans.
J Contemp Dent Pract
; 21(12): 1325-1330, 2020 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33893253
6.
Expanding the genetic cause of multiple sulfatase deficiency: A novel SUMF1 variant in a patient displaying a severe late infantile form of the disease.
Mol Genet Metab
; 121(3): 252-258, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28566233
7.
σ1B adaptin regulates adipogenesis by mediating the sorting of sortilin in adipose tissue.
J Cell Sci
; 127(Pt 16): 3477-87, 2014 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24928897
8.
Trans-Golgi network morphology and sorting is regulated by prolyl-oligopeptidase-like protein PREPL and the AP-1 complex subunit µ1A.
J Cell Sci
; 126(Pt 5): 1155-63, 2013 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23321636
9.
Proprotein convertases process and thereby inactivate formylglycine-generating enzyme.
J Biol Chem
; 288(8): 5828-39, 2013 Feb 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-23288839
10.
Effective Gene Therapy for Metachromatic Leukodystrophy Achieved with Minimal Lentiviral Genomic Integrations.
bioRxiv
; 2024 Mar 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38559013
11.
Drug screening identifies tazarotene and bexarotene as therapeutic agents in multiple sulfatase deficiency.
EMBO Mol Med
; 15(3): e14837, 2023 03 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36789546
12.
Molecular basis of multiple sulfatase deficiency, mucolipidosis II/III and Niemann-Pick C1 disease - Lysosomal storage disorders caused by defects of non-lysosomal proteins.
Biochim Biophys Acta
; 1793(4): 710-25, 2009 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19124046
13.
A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency.
Mol Genet Genomic Med
; 8(9): e1167, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32048457
14.
Recognition and ER Quality Control of Misfolded Formylglycine-Generating Enzyme by Protein Disulfide Isomerase.
Cell Rep
; 24(1): 27-37.e4, 2018 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29972788
15.
Eukaryotic formylglycine-generating enzyme catalyses a monooxygenase type of reaction.
FEBS J
; 282(17): 3262-74, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26077311
16.
Rapid degradation of an active formylglycine generating enzyme variant leads to a late infantile severe form of multiple sulfatase deficiency.
Eur J Hum Genet
; 21(9): 1020-3, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23321616
17.
SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency.
Eur J Hum Genet
; 19(3): 253-61, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21224894
18.
ERp44 mediates a thiol-independent retention of formylglycine-generating enzyme in the endoplasmic reticulum.
J Biol Chem
; 283(10): 6375-83, 2008 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-18178549
19.
The non-catalytic N-terminal extension of formylglycine-generating enzyme is required for its biological activity and retention in the endoplasmic reticulum.
J Biol Chem
; 283(17): 11556-64, 2008 Apr 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-18305113
20.
AP-1 membrane-cytoplasm recycling regulated by mu1A-adaptin.
Traffic
; 9(1): 121-32, 2008 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-17988225