Sven Potelle
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Explore the profile of Sven Potelle including associated specialties, affiliations and a list of published articles.
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12
Citations
221
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Recent Articles
1.
Maia N, Potelle S, Yildirim H, Duvet S, Akula S, Schulz C, et al.
Am J Hum Genet
. 2022 Jan;
109(2):345-360.
PMID: 35045343
Free oligosaccharides (fOSs) are soluble oligosaccharide species generated during N-glycosylation of proteins. Although little is known about fOS metabolism, the recent identification of NGLY1 deficiency, a congenital disorder of deglycosylation...
2.
Ury B, Potelle S, Caligiore F, Whorton M, Bommer G
J Biol Chem
. 2021 May;
296:100789.
PMID: 34015330
The glycoprotein α-dystroglycan helps to link the intracellular cytoskeleton to the extracellular matrix. A unique glycan structure attached to this protein is required for its interaction with extracellular matrix proteins...
3.
Morava E, Schatz U, Torring P, Abbott M, Baumann M, Brasch-Andersen C, et al.
Am J Hum Genet
. 2021 May;
108(6):1151-1160.
PMID: 33979636
We describe a genetic syndrome due to PGM2L1 deficiency. PGM2 and PGM2L1 make hexose-bisphosphates, like glucose-1,6-bisphosphate, which are indispensable cofactors for sugar phosphomutases. These enzymes form the hexose-1-phosphates crucial for...
4.
Lebredonchel E, Houdou M, Potelle S, de Bettignies G, Schulz C, Krzewinski Recchi M, et al.
Biochimie
. 2019 Jul;
165:123-130.
PMID: 31351090
Since 2012, the interest for TMEM165 increased due to its implication in a rare genetic human disease named TMEM165-CDG (Congenital Disorder(s) of Glycosylation). TMEM165 is a Golgi localized protein, highly...
5.
Houdou M, Lebredonchel E, Garat A, Duvet S, Legrand D, Decool V, et al.
FASEB J
. 2018 Oct;
33(2):2669-2679.
PMID: 30307768
Congenital disorders of glycosylation are severe inherited diseases in which aberrant protein glycosylation is a hallmark. Transmembrane protein 165 (TMEM165) is a novel Golgi transmembrane protein involved in type II...
6.
Dulary E, Yu S, Houdou M, de Bettignies G, Decool V, Potelle S, et al.
Biochim Biophys Acta Gen Subj
. 2017 Nov;
1862(3):394-402.
PMID: 29108953
The Golgi ion homeostasis is tightly regulated to ensure essential cellular processes such as glycosylation, yet our understanding of this regulation remains incomplete. Gdt1p is a member of the conserved...
7.
Morelle W, Potelle S, Witters P, Wong S, Climer L, Lupashin V, et al.
J Clin Endocrinol Metab
. 2017 Mar;
102(4):1375-1386.
PMID: 28323990
Context: TMEM165 deficiency is a severe multisystem disease that manifests with metabolic, endocrine, and skeletal involvement. It leads to one type of congenital disorders of glycosylation (CDG), a rapidly growing...
8.
Potelle S, Dulary E, Climer L, Duvet S, Morelle W, Vicogne D, et al.
Biochem J
. 2017 Mar;
474(9):1481-1493.
PMID: 28270545
TMEM165 deficiencies lead to one of the congenital disorders of glycosylation (CDG), a group of inherited diseases where the glycosylation process is altered. We recently demonstrated that the Golgi glycosylation...
9.
Krzewinski-Recchi M, Potelle S, Mir A, Vicogne D, Dulary E, Duvet S, et al.
Biochim Biophys Acta Gen Subj
. 2017 Jan;
1861(4):737-748.
PMID: 28088503
Background: Defects in TMEM165 gene cause a type-II Congenital Disorder of Glycosylation affecting Golgi glycosylation processes. TMEM165 patients exhibit psychomotor retardation, important osteoporosis, scoliosis, irregular epiphyses and thin bone cortex....
10.
Dulary E, Potelle S, Legrand D, Foulquier F
Tissue Cell
. 2016 Jul;
49(2 Pt A):150-156.
PMID: 27401145
Congenital Disorders of Glycosylation (CDG) are rare inherited diseases causing glycosylation defects responsible for severe growth and psychomotor retardations in patients. Whereas most genetic defects affect enzymes directly involved in...