Detalhe da pesquisa
1.
Biallelic variants in TRAPPC10 cause a microcephalic TRAPPopathy disorder in humans and mice.
PLoS Genet
; 18(3): e1010114, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35298461
2.
Lipidomic analysis of human TANGO2-deficient cells suggests a lipid imbalance as a cause of TANGO2 deficiency disease.
Biochem Biophys Res Commun
; 717: 150047, 2024 Jul 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38718569
3.
Vitamin B5, a coenzyme A precursor, rescues TANGO2 deficiency disease-associated defects in Drosophila and human cells.
J Inherit Metab Dis
; 46(2): 358-368, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36502486
4.
TRAPPC11-related muscular dystrophy with hypoglycosylation of alpha-dystroglycan in skeletal muscle and brain.
Neuropathol Appl Neurobiol
; 48(2): e12771, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34648194
5.
TRAPPopathies: An emerging set of disorders linked to variations in the genes encoding transport protein particle (TRAPP)-associated proteins.
Traffic
; 20(1): 5-26, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30152084
6.
TRAPPC11 functions in autophagy by recruiting ATG2B-WIPI4/WDR45 to preautophagosomal membranes.
Traffic
; 20(5): 325-345, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30843302
7.
The phenotype associated with variants in TANGO2 may be explained by a dual role of the protein in ER-to-Golgi transport and at the mitochondria.
J Inherit Metab Dis
; 44(2): 426-437, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32909282
8.
Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction.
Am J Hum Genet
; 101(2): 291-299, 2017 Aug 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28777934
9.
Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts.
J Med Genet
; 55(11): 753-764, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30120216
10.
A novel TRAPPC11 mutation in two Turkish families associated with cerebral atrophy, global retardation, scoliosis, achalasia and alacrima.
J Med Genet
; 54(3): 176-185, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27707803
11.
Differential effects of hnRNP D/AUF1 isoforms on HIV-1 gene expression.
Nucleic Acids Res
; 40(8): 3663-75, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22187150
12.
ESCRT-II's involvement in HIV-1 genomic RNA trafficking and assembly.
Biol Cell
; 104(12): 706-21, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22978549
13.
Dynamic regulation of inter-organelle communication by ubiquitylation controls skeletal muscle development and disease onset.
Elife
; 122023 07 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37432316
14.
Novel Staufen1 ribonucleoproteins prevent formation of stress granules but favour encapsidation of HIV-1 genomic RNA.
J Cell Sci
; 123(Pt 3): 369-83, 2010 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-20053637
15.
Live cell visualization of the interactions between HIV-1 Gag and the cellular RNA-binding protein Staufen1.
Retrovirology
; 7: 41, 2010 May 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-20459747
16.
Publisher Correction: Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein.
Sci Rep
; 10(1): 19770, 2020 Nov 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33173071
17.
Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein.
Sci Rep
; 9(1): 14036, 2019 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31575891
18.
TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophy.
Skelet Muscle
; 8(1): 17, 2018 05 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-29855340
19.
HIV-1 enhances mTORC1 activity and repositions lysosomes to the periphery by co-opting Rag GTPases.
Sci Rep
; 7(1): 5515, 2017 07 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-28710431
20.
TRAMM, a new player in CENP-E biology.
Mol Cell Oncol
; 3(1): e1057314, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-27308570