Detalhe da pesquisa
1.
A substrate-specific mTORC1 pathway underlies Birt-Hogg-Dubé syndrome.
Nature
; 585(7826): 597-602, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32612235
2.
Light-responsive microRNA miR-211 targets Ezrin to modulate lysosomal biogenesis and retinal cell clearance.
EMBO J
; 39(8): e102468, 2020 04 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-32154600
3.
Increased expression or activation of TRPML1 reduces hepatic storage of toxic Z alpha-1 antitrypsin.
Mol Ther
; 31(9): 2651-2661, 2023 09 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37394797
4.
CHOP and c-JUN up-regulate the mutant Z α1-antitrypsin, exacerbating its aggregation and liver proteotoxicity.
J Biol Chem
; 295(38): 13213-13223, 2020 09 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-32723872
5.
FGF signalling regulates bone growth through autophagy.
Nature
; 528(7581): 272-5, 2015 Dec 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-26595272
6.
The Amyloid Inhibitor CLR01 Relieves Autophagy and Ameliorates Neuropathology in a Severe Lysosomal Storage Disease.
Mol Ther
; 28(4): 1167-1176, 2020 04 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32087148
7.
Enhancement of hepatic autophagy increases ureagenesis and protects against hyperammonemia.
Proc Natl Acad Sci U S A
; 115(2): 391-396, 2018 01 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29279371
8.
microRNAs as biomarkers in Pompe disease.
Genet Med
; 21(3): 591-600, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29997386
9.
Pyruvate dehydrogenase complex and lactate dehydrogenase are targets for therapy of acute liver failure.
J Hepatol
; 69(2): 325-335, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29580866
10.
The Amyloid Inhibitor CLR01 Relieves Autophagy and Ameliorates Neuropathology in a Severe Lysosomal Storage Disease.
Mol Ther
; 30(11): 3499, 2022 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36261045
11.
Low-dose Gene Therapy Reduces the Frequency of Enzyme Replacement Therapy in a Mouse Model of Lysosomal Storage Disease.
Mol Ther
; 24(12): 2054-2063, 2016 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-27658524
12.
Tbx1 regulates brain vascularization.
Hum Mol Genet
; 23(1): 78-89, 2014 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23945394
13.
A chaperone enhances blood α-glucosidase activity in Pompe disease patients treated with enzyme replacement therapy.
Mol Ther
; 22(11): 2004-12, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25052852
14.
Impaired parkin-mediated mitochondrial targeting to autophagosomes differentially contributes to tissue pathology in lysosomal storage diseases.
Hum Mol Genet
; 21(8): 1770-81, 2012 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22215441
15.
Liver-directed gene therapy for ornithine aminotransferase deficiency.
EMBO Mol Med
; 15(4): e17033, 2023 04 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36647689
16.
Genome editing without nucleases confers proliferative advantage to edited hepatocytes and corrects Wilson disease.
JCI Insight
; 8(21)2023 Nov 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37707949
17.
TFEB and TFE3 drive kidney cystogenesis and tumorigenesis.
EMBO Mol Med
; 15(5): e16877, 2023 05 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36987696
18.
Correction of CNS defects in the MPSII mouse model via systemic enzyme replacement therapy.
Hum Mol Genet
; 19(24): 4871-85, 2010 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20876612
19.
Efficacy of a combined intracerebral and systemic gene delivery approach for the treatment of a severe lysosomal storage disorder.
Mol Ther
; 19(5): 860-9, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21326216
20.
Induction of Autophagy Promotes Clearance of RHOP23H Aggregates and Protects From Retinal Degeneration.
Front Aging Neurosci
; 14: 878958, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35847673