Miroslav P. Milev

Montreal, QC, Canada

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 27 publications

A Humanized Yeast Model for Studying TRAPP Complex Mutations; Proof-of-Concept Using Variants from an Individual with a TRAPPC1-Associated Neurodevelopmental Syndrome.

A Humanized Yeast Model for Studying TRAPP Complex Mutations; Proof-of-Concept Using Variants from an Individual with a TRAPPC1-Associated Neurodevelopmental Syndrome.

Journal: Cells

Published: August 04, 2024

Lipidomic analysis of human TANGO2-deficient cells suggests a lipid imbalance as a cause of TANGO2 deficiency disease.

Lipidomic analysis of human TANGO2-deficient cells suggests a lipid imbalance as a cause of TANGO2 deficiency disease.

Journal: Biochemical and biophysical research communications

Published: April 16, 2024

SEC24C deficiency causes trafficking and glycosylation abnormalities in an epileptic encephalopathy with cataracts and dyserythropoeisis.

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.

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

Dynamic regulation of inter-organelle communication by ubiquitylation controls skeletal muscle development and disease onset.

Dynamic regulation of inter-organelle communication by ubiquitylation controls skeletal muscle development and disease onset.

Journal: eLife

Published: July 18, 2022

Biallelic variants in TRAPPC10 cause a microcephalic TRAPPopathy disorder in humans and mice.

Biallelic variants in TRAPPC10 cause a microcephalic TRAPPopathy disorder in humans and mice.

Journal: PLoS genetics

Published: September 26, 2021

TRAPPC11-related muscular dystrophy with hypoglycosylation of alpha-dystroglycan in skeletal muscle and brain.

TRAPPC11-related muscular dystrophy with hypoglycosylation of alpha-dystroglycan in skeletal muscle and brain.

Journal: Neuropathology and applied neurobiology

Published: December 29, 2020

Publisher Correction: Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein.

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.

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

A novel homozygous variant in TRAPPC2L results in a neurodevelopmental disorder and disrupts TRAPP complex function.

A novel homozygous variant in TRAPPC2L results in a neurodevelopmental disorder and disrupts TRAPP complex function.

Journal: Journal of medical genetics

Published: March 17, 2020

Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein.

Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein.

Journal: Scientific reports

Published: April 10, 2019

TRAPPC11 functions in autophagy by recruiting ATG2B-WIPI4/WDR45 to preautophagosomal membranes.

TRAPPC11 functions in autophagy by recruiting ATG2B-WIPI4/WDR45 to preautophagosomal membranes.

Journal: Traffic (Copenhagen, Denmark)

Published: December 26, 2018

Showing 1-12 of 27

Last Updated: 09/26/2026