Detalhe da pesquisa
1.
Hyperactive HRAS dysregulates energetic metabolism in fibroblasts from patients with Costello syndrome via enhanced production of reactive oxidizing species.
Hum Mol Genet
; 31(4): 561-575, 2022 02 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-34508588
2.
Biallelic Inactivating TUB Variants Cause Retinal Ciliopathy Impairing Biogenesis and the Structure of the Primary Cilium.
Int J Mol Sci
; 23(23)2022 Nov 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-36498982
3.
Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome.
Clin Genet
; 98(2): 172-178, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32415735
4.
BCM-95 and (2-hydroxypropyl)-ß-cyclodextrin reverse autophagy dysfunction and deplete stored lipids in Sap C-deficient fibroblasts.
Hum Mol Genet
; 24(15): 4198-211, 2015 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25926625
5.
Gaucher disease due to saposin C deficiency is an inherited lysosomal disease caused by rapidly degraded mutant proteins.
Hum Mol Genet
; 23(21): 5814-26, 2014 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24925315
6.
Reduced cathepsins B and D cause impaired autophagic degradation that can be almost completely restored by overexpression of these two proteases in Sap C-deficient fibroblasts.
Hum Mol Genet
; 21(23): 5159-73, 2012 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22949512
7.
Metabolic labelling of a subpopulation of small extracellular vesicles using a fluorescent palmitic acid analogue.
J Extracell Vesicles
; 12(12): e12392, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38072803
8.
Saposin C mutations in Gaucher disease patients resulting in lysosomal lipid accumulation, saposin C deficiency, but normal prosaposin processing and sorting.
Hum Mol Genet
; 19(15): 2987-97, 2010 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-20484222
9.
Efficient one-step chromatographic purification and functional characterization of recombinant human Saposin C.
Protein Expr Purif
; 78(2): 209-15, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21463688
10.
High resolution NMR conformational studies of new bivalent NOP receptor antagonists in model membrane systems.
Bioorg Chem
; 39(1): 59-66, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21211814
11.
Microenvironmental pH is a key factor for exosome traffic in tumor cells.
J Biol Chem
; 284(49): 34211-22, 2009 Dec 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-19801663
12.
The secretion and maturation of prosaposin and procathepsin D are blocked in embryonic neural progenitor cells.
Biochim Biophys Acta
; 1783(8): 1480-9, 2008 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-18346466
13.
The N370S (Asn370-->Ser) mutation affects the capacity of glucosylceramidase to interact with anionic phospholipid-containing membranes and saposin C.
Biochem J
; 390(Pt 1): 95-103, 2005 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-15826241
14.
Cathepsin-mediated regulation of autophagy in saposin C deficiency.
Autophagy
; 9(2): 241-3, 2013 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23108186
15.
Autophagy in Gaucher disease due to saposin C deficiency.
Autophagy
; 7(1): 94-5, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-20980829
16.
Saposin B binds and transfers phospholipids.
J Lipid Res
; 47(5): 1045-53, 2006 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-16461955
17.
Interaction of saposin D with membranes: effect of anionic phospholipids and sphingolipids.
Biochem J
; 373(Pt 3): 785-92, 2003 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-12733985
18.
Glucosylceramidase mass and subcellular localization are modulated by cholesterol in Niemann-Pick disease type C.
J Biol Chem
; 279(17): 17674-80, 2004 Apr 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-14757764