Sven Potelle

Lille, 59000, France

Last Updated: 09/26/2026

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Found 13 publications

A missing enzyme-rescue metabolite as cause of a rare skeletal dysplasia.

A missing enzyme-rescue metabolite as cause of a rare skeletal dysplasia.

Journal: Nature
Published: August 20, 2024

Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder.

Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder.

Journal: American journal of human genetics
Published: July 19, 2021

Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorder.

Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorder.

Journal: American journal of human genetics
Published: January 28, 2021

The promiscuous binding pocket of SLC35A1 ensures redundant transport of CDP-ribitol to the Golgi.

The promiscuous binding pocket of SLC35A1 ensures redundant transport of CDP-ribitol to the Golgi.

Journal: The Journal of biological chemistry
Published: January 14, 2021

Dissection of TMEM165 function in Golgi glycosylation and its Mn2+ sensitivity.

Dissection of TMEM165 function in Golgi glycosylation and its Mn2+ sensitivity.

Journal: Biochimie
Published: May 29, 2019

Investigating the function of Gdt1p in yeast Golgi glycosylation.

Investigating the function of Gdt1p in yeast Golgi glycosylation.

Journal: Biochimica et biophysica acta. General subjects
Published: May 05, 2017

Galactose Supplementation in Patients With TMEM165-CDG Rescues the Glycosylation Defects.

Galactose Supplementation in Patients With TMEM165-CDG Rescues the Glycosylation Defects.

Journal: The Journal of clinical endocrinology and metabolism
Published: October 13, 2016

Evidence for splice transcript variants of TMEM165, a gene involved in CDG.

Evidence for splice transcript variants of TMEM165, a gene involved in CDG.

Journal: Biochimica et biophysica acta. General subjects
Published: October 13, 2016

Manganese-induced turnover of TMEM165.

Manganese-induced turnover of TMEM165.

Journal: The Biochemical journal
Published: October 10, 2016

TMEM165 deficiencies in Congenital Disorders of Glycosylation type II (CDG-II): Clues and evidences for roles of the protein in Golgi functions and ion homeostasis.

TMEM165 deficiencies in Congenital Disorders of Glycosylation type II (CDG-II): Clues and evidences for roles of the protein in Golgi functions and ion homeostasis.

Journal: Tissue & cell
Published: April 28, 2016

A sequential bioorthogonal dual strategy: ManNAl and SiaNAl as distinct tools to unravel sialic acid metabolic pathways.

A sequential bioorthogonal dual strategy: ManNAl and SiaNAl as distinct tools to unravel sialic acid metabolic pathways.

Journal: Chemical communications (Cambridge, England)
Published: January 06, 2016

Glycosylation abnormalities in Gdt1p/TMEM165 deficient cells result from a defect in Golgi manganese homeostasis.

Glycosylation abnormalities in Gdt1p/TMEM165 deficient cells result from a defect in Golgi manganese homeostasis.

Journal: Human molecular genetics
Published: December 09, 2015
Showing 1-12 of 13

Last Updated: 09/26/2026