Detalhe da pesquisa
1.
Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling.
PLoS Genet
; 19(11): e1011005, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37934770
2.
Macrocephaly and developmental delay caused by missense variants in RAB5C.
Hum Mol Genet
; 32(21): 3063-3077, 2023 10 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-37552066
3.
A dominant negative variant of RAB5B disrupts maturation of surfactant protein B and surfactant protein C.
Proc Natl Acad Sci U S A
; 119(6)2022 02 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35121658
4.
Regulation of PGC1α Downstream of the Insulin Signaling Pathway Plays a Role in the Hepatic Proteotoxicity of Mutant α1-Antitrypsin Deficiency Variant Z.
Gastroenterology
; 163(1): 270-284, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35301011
5.
Functional analysis of a novel de novo variant in PPP5C associated with microcephaly, seizures, and developmental delay.
Mol Genet Metab
; 136(1): 65-73, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35361529
6.
Functional analysis of a de novo variant in the neurodevelopment and generalized epilepsy disease gene NBEA.
Mol Genet Metab
; 134(1-2): 195-202, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34412939
7.
Mechanisms of Action of Autophagy Modulators Dissected by Quantitative Systems Pharmacology Analysis.
Int J Mol Sci
; 21(8)2020 Apr 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-32325894
8.
Serum squamous cell carcinoma antigen as an early indicator of response during therapy of cervical cancer.
Br J Cancer
; 118(1): 72-78, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29112685
9.
Enhancing Autophagy with Drugs or Lung-directed Gene Therapy Reverses the Pathological Effects of Respiratory Epithelial Cell Proteinopathy.
J Biol Chem
; 290(50): 29742-57, 2015 Dec 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-26494620
10.
A genome-wide RNAi screen identifies potential drug targets in a C. elegans model of α1-antitrypsin deficiency.
Hum Mol Genet
; 23(19): 5123-32, 2014 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24838285
11.
A C. elegans model of human α1-antitrypsin deficiency links components of the RNAi pathway to misfolded protein turnover.
Hum Mol Genet
; 23(19): 5109-22, 2014 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24838286
12.
SERPINB12 Is a Slow-Binding Inhibitor of Granzyme A and Hepsin.
Biochemistry
; 54(45): 6756-9, 2015 Nov 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-26497600
13.
A high-content assay for identifying small molecules that reprogram C. elegans germ cell fate.
Methods
; 68(3): 529-35, 2014 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24990146
14.
Longitudinal modeling of human neuronal aging reveals the contribution of the RCAN1-TFEB pathway to Huntington's disease neurodegeneration.
Nat Aging
; 4(1): 95-109, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38066314
15.
Multiple Genes Core to ERAD, Macroautophagy and Lysosomal Degradation Pathways Participate in the Proteostasis Response in α1-Antitrypsin Deficiency.
Cell Mol Gastroenterol Hepatol
; 17(6): 1007-1024, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38336172
16.
Longitudinal modeling of human neuronal aging identifies RCAN1-TFEB pathway contributing to neurodegeneration of Huntington's disease.
Res Sq
; 2023 May 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37214956
17.
SERPINB3 (SCCA1) inhibits cathepsin L and lysoptosis, protecting cervical cancer cells from chemoradiation.
Commun Biol
; 5(1): 46, 2022 01 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35022555
18.
Age-related Huntington's disease progression modeled in directly reprogrammed patient-derived striatal neurons highlights impaired autophagy.
Nat Neurosci
; 25(11): 1420-1433, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36303071
19.
Lysoptosis is an evolutionarily conserved cell death pathway moderated by intracellular serpins.
Commun Biol
; 5(1): 47, 2022 01 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35022507
20.
Serpins flex their muscle: II. Structural insights into target peptidase recognition, polymerization, and transport functions.
J Biol Chem
; 285(32): 24307-12, 2010 Aug 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-20498368