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 May 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38718569
3.
Natural history of TANGO2 deficiency disorder: Baseline assessment of 73 patients.
Genet Med
; 25(4): 100352, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36473599
4.
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
5.
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
6.
A novel homozygous variant in TRAPPC2L results in a neurodevelopmental disorder and disrupts TRAPP complex function.
J Med Genet
; 58(9): 592-601, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32843486
7.
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
8.
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
9.
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
10.
Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability.
Brain
; 143(1): 112-130, 2020 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31794024
11.
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
12.
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
13.
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
14.
In sickness and in health: the role of TRAPP and associated proteins in disease.
Traffic
; 15(8): 803-18, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24917561
15.
Are all multisubunit tethering complexes bona fide tethers?
Traffic
; 15(11): 1282-7, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25048641
16.
Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability.
Am J Hum Genet
; 93(1): 181-90, 2013 Jul 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-23830518
17.
A trs20 mutation that mimics an SEDT-causing mutation blocks selective and non-selective autophagy: a model for TRAPP III organization.
Traffic
; 14(10): 1091-104, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23898804
18.
Haem's relevance genuine? Re-visiting the roles of TANGO2 homologues including HRG-9 and HRG-10 in C. elegans.
bioRxiv
; 2023 Dec 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38106020
19.
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
20.
TRAPPC2L is a novel, highly conserved TRAPP-interacting protein.
Traffic
; 10(6): 724-36, 2009 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-19416478