Djenann Dic-Saint
Montreal, QC, Canada
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 13 publications
SEC24C deficiency causes trafficking and glycosylation abnormalities in an epileptic encephalopathy with cataracts and dyserythropoeisis.
Journal: JCI insight
Published: June 29, 2023
Vitamin B5, a coenzyme A precursor, rescues TANGO2 deficiency disease-associated defects in Drosophila and human cells.
Journal: Journal of inherited metabolic disease
Published: September 07, 2022
Biallelic variants in TRAPPC10 cause a microcephalic TRAPPopathy disorder in humans and mice.
Journal: PLoS genetics
Published: September 26, 2021
Publisher Correction: Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein.
Journal: Scientific reports
Published: November 11, 2020
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.
Journal: Journal of inherited metabolic disease
Published: March 18, 2020
TRAPPC11 functions in autophagy by recruiting ATG2B-WIPI4/WDR45 to preautophagosomal membranes.
Journal: Traffic (Copenhagen, Denmark)
Published: December 26, 2018
Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts.
Journal: Journal of medical genetics
Published: April 20, 2018
Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction.
Journal: American journal of human genetics
Published: May 01, 2017
The TRAPP Subunit Trs130p Interacts with the GAP Gyp6p to Mediate Ypt6p Dynamics at the Late Golgi.
Journal: Frontiers in cell and developmental biology
Published: December 11, 2015
TRAMM/TrappC12 plays a role in chromosome congression, kinetochore stability, and CENP-E recruitment.
Journal: The Journal of cell biology
Published: April 29, 2015
A trs20 mutation that mimics an SEDT-causing mutation blocks selective and non-selective autophagy: a model for TRAPP III organization.
Journal: Traffic (Copenhagen, Denmark)
Published: March 05, 2013
Last Updated: 09/26/2026