Search details
1.
Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling.
PLoS Genet
; 19(11): e1011005, 2023 Nov.
Article
in English
| 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.
Article
in English
| MEDLINE | ID: mdl-37552066
3.
Variants in autophagy genes MTMR12 and FAM134A are putative modifiers of the hepatic phenotype in α1-antitrypsin deficiency.
Hepatology
; 2024 Apr 01.
Article
in English
| MEDLINE | ID: mdl-38557779
4.
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.
Article
in English
| MEDLINE | ID: mdl-35121658
5.
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.
Article
in English
| MEDLINE | ID: mdl-35301011
6.
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.
Article
in English
| MEDLINE | ID: mdl-35361529
7.
Autophagy genes in myeloid cells counteract IFNγ-induced TNF-mediated cell death and fatal TNF-induced shock.
Proc Natl Acad Sci U S A
; 116(33): 16497-16506, 2019 08 13.
Article
in English
| MEDLINE | ID: mdl-31346084
8.
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.
Article
in English
| MEDLINE | ID: mdl-34412939
9.
Functional characterization of four ATP-binding cassette transporter A3 gene (ABCA3) variants.
Hum Mutat
; 41(7): 1298-1307, 2020 07.
Article
in English
| MEDLINE | ID: mdl-32196812
10.
Mechanisms of Action of Autophagy Modulators Dissected by Quantitative Systems Pharmacology Analysis.
Int J Mol Sci
; 21(8)2020 Apr 19.
Article
in English
| MEDLINE | ID: mdl-32325894
11.
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.
Article
in English
| MEDLINE | ID: mdl-29112685
12.
Activation of the Caenorhabditis elegans Degenerin Channel by Shear Stress Requires the MEC-10 Subunit.
J Biol Chem
; 291(27): 14012-14022, 2016 Jul 01.
Article
in English
| MEDLINE | ID: mdl-27189943
13.
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.
Article
in English
| MEDLINE | ID: mdl-26494620
14.
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.
Article
in English
| MEDLINE | ID: mdl-24838285
15.
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.
Article
in English
| MEDLINE | ID: mdl-24838286
16.
SERPINB12 Is a Slow-Binding Inhibitor of Granzyme A and Hepsin.
Biochemistry
; 54(45): 6756-9, 2015 Nov 17.
Article
in English
| MEDLINE | ID: mdl-26497600
17.
Isolation of serpin-interacting proteins in C. elegans using protein affinity purification.
Methods
; 68(3): 536-41, 2014 Aug 01.
Article
in English
| MEDLINE | ID: mdl-24798811
18.
Update of the human and mouse SERPIN gene superfamily.
Hum Genomics
; 7: 22, 2013 Oct 30.
Article
in English
| MEDLINE | ID: mdl-24172014
19.
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.
Article
in English
| MEDLINE | ID: mdl-38066314
20.
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 Feb 07.
Article
in English
| MEDLINE | ID: mdl-38336172