Keyword search (4,164 papers available)

"Membrane traffic" Keyword-tagged Publications:

Title Authors PubMed ID
1 Vitamin B5, a Coenzyme A precursor, rescues TANGO2 deficiency disease-associated defects in Drosophila and human cells Asadi P; Milev MP; Saint-Dic D; Gamberi C; Sacher M; 36502486
BIOLOGY
2 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. Milev MP, Saint-Dic D, Zardoui K, Klopstock T, Law C, Distelmaier F, Sacher M 32909282
BIOLOGY
3 TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophy. Larson AA, Baker PR, Milev MP, Press CA, Sokol RJ, Cox MO, Lekostaj JK, Stence AA, Bossler AD, Mueller JM, Prematilake K, Tadjo TF, Williams CA, Sacher M, Moore SA 29855340
BIOLOGY
4 Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts. Milev MP, Graziano C, Karall D, Kuper WFE, Al-Deri N, Cordelli DM, Haack TB, Danhauser K, Iuso A, Palombo F, Pippucci T, Prokisch H, Saint-Dic D, Seri M, Stanga D, Cenacchi G, van Gassen KLI, Zschocke J, Fauth C, Mayr JA, Sacher M, van Hasselt PM 30120216
BIOLOGY
5 TRAPPopathies: An emerging set of disorders linked to variations in the genes encoding transport protein particle (TRAPP)-associated proteins. Sacher M, Shahrzad N, Kamel H, Milev MP 30152084
BIOLOGY

 

Title:TRAPPopathies: An emerging set of disorders linked to variations in the genes encoding transport protein particle (TRAPP)-associated proteins.
Authors:Sacher M,  Shahrzad N,  Kamel H,  Milev MP
Link:https://www.ncbi.nlm.nih.gov/pubmed/30152084?dopt=Abstract
DOI:10.1111/tra.12615
Publication:Traffic (Copenhagen, Denmark)
Keywords:Golgi;  Rab;  TRAPP;  guanine nucleotide exchange factor;  intellectual deficit;  membrane traffic;  muscular dystrophy;  neurodevelopmental disorders;  secretory pathway;  variants; 
PMID:30152084 Category:Traffic Date Added:2019-06-07
Dept Affiliation: BIOLOGY
1 Department of Biology, Concordia University, Montreal, Quebec, Canada.
2 Department of Anatomy and Cell Biology, McGill University, Montreal, Quebec, Canada.
3 Department of Medicine, University of California, San Francisco, California.

Description:

TRAPPopathies: An emerging set of disorders linked to variations in the genes encoding transport protein particle (TRAPP)-associated proteins.

Traffic. 2019 01;20(1):5-26

Authors: Sacher M, Shahrzad N, Kamel H, Milev MP

Abstract

The movement of proteins between cellular compartments requires the orchestrated actions of many factors including Rab family GTPases, Soluble NSF Attachment protein REceptors (SNAREs) and so-called tethering factors. One such tethering factor is called TRAnsport Protein Particle (TRAPP), and in humans, TRAPP proteins are distributed into two related complexes called TRAPP II and III. Although thought to act as a single unit within the complex, in the past few years it has become evident that some TRAPP proteins function independently of the complex. Consistent with this, variations in the genes encoding these proteins result in a spectrum of human diseases with diverse, but partially overlapping, phenotypes. This contrasts with other tethering factors such as COG, where variations in the genes that encode its subunits all result in an identical phenotype. In this review, we present an up-to-date summary of all the known disease-related variations of genes encoding TRAPP-associated proteins and the disorders linked to these variations which we now call TRAPPopathies.

PMID: 30152084 [PubMed - in process]




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