Detalhe da pesquisa
1.
Gaucher disease glucocerebrosidase and α-synuclein form a bidirectional pathogenic loop in synucleinopathies.
Cell
; 146(1): 37-52, 2011 Jul 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-21700325
2.
PGRN deficiency exacerbates, whereas a brain penetrant PGRN derivative protects, GBA1 mutation-associated pathologies and diseases.
Proc Natl Acad Sci U S A
; 120(1): e2210442120, 2023 01 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36574647
3.
Complement drives glucosylceramide accumulation and tissue inflammation in Gaucher disease.
Nature
; 543(7643): 108-112, 2017 03 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28225753
4.
An unexpected player in Gaucher disease: The multiple roles of complement in disease development.
Semin Immunol
; 37: 30-42, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29478824
5.
Intravenous infusion of iPSC-derived neural precursor cells increases acid ß-glucosidase function in the brain and lessens the neuronopathic phenotype in a mouse model of Gaucher disease.
Hum Mol Genet
; 28(20): 3406-3421, 2019 10 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31373366
6.
Extracellular Lipids Accumulate in Human Carotid Arteries as Distinct Three-Dimensional Structures and Have Proinflammatory Properties.
Am J Pathol
; 188(2): 525-538, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29154769
7.
LAL (Lysosomal Acid Lipase) Promotes Reverse Cholesterol Transport In Vitro and In Vivo.
Arterioscler Thromb Vasc Biol
; 38(5): 1191-1201, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29599133
8.
Modulating ryanodine receptors with dantrolene attenuates neuronopathic phenotype in Gaucher disease mice.
Hum Mol Genet
; 25(23): 5126-5141, 2016 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27655403
9.
Neuronopathic Gaucher disease: dysregulated mRNAs and miRNAs in brain pathogenesis and effects of pharmacologic chaperone treatment in a mouse model.
Hum Mol Genet
; 24(24): 7031-48, 2015 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26420838
10.
Ten plus one challenges in diseases of the lysosomal system.
Mol Genet Metab
; 120(1-2): 38-46, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-27923545
11.
Therapies for lysosomal storage diseases: Principles, practice, and prospects for refinements based on evolving science.
Mol Genet Metab
; 137(1-2): 81-91, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35933791
12.
Long-term hematological, visceral, and growth outcomes in children with Gaucher disease type 3 treated with imiglucerase in the International Collaborative Gaucher Group Gaucher Registry.
Mol Genet Metab
; 120(1-2): 47-56, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28040394
13.
Roscoe Owen Brady, MD: Remembrances of co-investigators and colleagues.
Mol Genet Metab
; 120(1-2): 1-7, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-27866832
14.
CNS-accessible Inhibitor of Glucosylceramide Synthase for Substrate Reduction Therapy of Neuronopathic Gaucher Disease.
Mol Ther
; 24(6): 1019-1029, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26948439
15.
Discrete mechanisms of mTOR and cell cycle regulation by AMPK agonists independent of AMPK.
Proc Natl Acad Sci U S A
; 111(4): E435-44, 2014 Jan 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-24474794
16.
Spiral ganglion degeneration and hearing loss as a consequence of satellite cell death in saposin B-deficient mice.
J Neurosci
; 35(7): 3263-75, 2015 Feb 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-25698761
17.
Multiple pathogenic proteins implicated in neuronopathic Gaucher disease mice.
Hum Mol Genet
; 23(15): 3943-57, 2014 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24599400
18.
Gaucher disease: Basic and translational science needs for more complete therapy and management.
Mol Genet Metab
; 132(2): 59-75, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33419694
19.
Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes.
J Med Genet
; 52(2): 85-94, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25480986
20.
The LIMP-2/SCARB2 binding motif on acid ß-glucosidase: basic and applied implications for Gaucher disease and associated neurodegenerative diseases.
J Biol Chem
; 289(43): 30063-74, 2014 Oct 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-25202012