210 related articles for article (PubMed ID: 24348268)
1. MAN1B1 deficiency: an unexpected CDG-II.
Rymen D; Peanne R; Millón MB; Race V; Sturiale L; Garozzo D; Mills P; Clayton P; Asteggiano CG; Quelhas D; Cansu A; Martins E; Nassogne MC; Gonçalves-Rocha M; Topaloglu H; Jaeken J; Foulquier F; Matthijs G
PLoS Genet; 2013; 9(12):e1003989. PubMed ID: 24348268
[TBL] [Abstract][Full Text] [Related]
2. MAN1B1-CDG: novel patients and novel variant.
Kasapkara CS; Olgac A; Kilic M; Keldermans L; Matthijs G; Jaeken J
J Pediatr Endocrinol Metab; 2021 Sep; 34(9):1207-1209. PubMed ID: 34162022
[TBL] [Abstract][Full Text] [Related]
3. Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency.
Van Scherpenzeel M; Timal S; Rymen D; Hoischen A; Wuhrer M; Hipgrave-Ederveen A; Grunewald S; Peanne R; Saada A; Edvardson S; Grønborg S; Ruijter G; Kattentidt-Mouravieva A; Brum JM; Freckmann ML; Tomkins S; Jalan A; Prochazkova D; Ondruskova N; Hansikova H; Willemsen MA; Hensbergen PJ; Matthijs G; Wevers RA; Veltman JA; Morava E; Lefeber DJ
Brain; 2014 Apr; 137(Pt 4):1030-8. PubMed ID: 24566669
[TBL] [Abstract][Full Text] [Related]
4. Siblings with MAN1B1-CDG Showing Novel Biochemical Profiles.
Okamoto N; Ohto T; Enokizono T; Wada Y; Kohmoto T; Imoto I; Haga Y; Seino J; Suzuki T
Cells; 2021 Nov; 10(11):. PubMed ID: 34831340
[TBL] [Abstract][Full Text] [Related]
5. N-Glycosylation of Serum IgG and Total Glycoproteins in MAN1B1 Deficiency.
Saldova R; Stöckmann H; O'Flaherty R; Lefeber DJ; Jaeken J; Rudd PM
J Proteome Res; 2015 Oct; 14(10):4402-12. PubMed ID: 26401844
[TBL] [Abstract][Full Text] [Related]
6. A Golgi-localized mannosidase (MAN1B1) plays a non-enzymatic gatekeeper role in protein biosynthetic quality control.
Iannotti MJ; Figard L; Sokac AM; Sifers RN
J Biol Chem; 2014 Apr; 289(17):11844-11858. PubMed ID: 24627495
[TBL] [Abstract][Full Text] [Related]
7. MAN1B-CDG: Novel variants with a distinct phenotype and review of literature.
Balasubramanian M; Johnson DS;
Eur J Med Genet; 2019 Feb; 62(2):109-114. PubMed ID: 29908352
[TBL] [Abstract][Full Text] [Related]
8. 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.
Dulary E; Potelle S; Legrand D; Foulquier F
Tissue Cell; 2017 Apr; 49(2 Pt A):150-156. PubMed ID: 27401145
[TBL] [Abstract][Full Text] [Related]
9. Key features and clinical variability of COG6-CDG.
Rymen D; Winter J; Van Hasselt PM; Jaeken J; Kasapkara C; Gokçay G; Haijes H; Goyens P; Tokatli A; Thiel C; Bartsch O; Hecht J; Krawitz P; Prinsen HC; Mildenberger E; Matthijs G; Kornak U
Mol Genet Metab; 2015 Nov; 116(3):163-70. PubMed ID: 26260076
[TBL] [Abstract][Full Text] [Related]
10. Mutations in COG2 encoding a subunit of the conserved oligomeric golgi complex cause a congenital disorder of glycosylation.
Kodera H; Ando N; Yuasa I; Wada Y; Tsurusaki Y; Nakashima M; Miyake N; Saitoh S; Matsumoto N; Saitsu H
Clin Genet; 2015 May; 87(5):455-60. PubMed ID: 24784932
[TBL] [Abstract][Full Text] [Related]
11. Deficiency of the Cog8 subunit in normal and CDG-derived cells impairs the assembly of the COG and Golgi SNARE complexes.
Laufman O; Freeze HH; Hong W; Lev S
Traffic; 2013 Oct; 14(10):1065-77. PubMed ID: 23865579
[TBL] [Abstract][Full Text] [Related]
12. MAN1B1-CDG: Three new individuals and associated biochemical profiles.
Sakhi S; Cholet S; Wehbi S; Isidor B; Cogne B; Vuillaumier-Barrot S; Dupré T; Detleft T; Schmitt E; Leheup B; Bonnet C; Feillet F; Muti C; Fenaille F; Bruneel A
Mol Genet Metab Rep; 2021 Sep; 28():100775. PubMed ID: 34141584
[TBL] [Abstract][Full Text] [Related]
13. Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation.
Polla DL; Edmondson AC; Duvet S; March ME; Sousa AB; Lehman A; ; Niyazov D; van Dijk F; Demirdas S; van Slegtenhorst MA; Kievit AJA; Schulz C; Armstrong L; Bi X; Rader DJ; Izumi K; Zackai EH; de Franco E; Jorge P; Huffels SC; Hommersom M; Ellard S; Lefeber DJ; Santani A; Hand NJ; van Bokhoven H; He M; de Brouwer APM
Am J Hum Genet; 2021 Jul; 108(7):1342-1349. PubMed ID: 34143952
[TBL] [Abstract][Full Text] [Related]
14. Use of Endoglycosidase H as a diagnostic tool for MAN1B1-CDG patients.
Duvet S; Mouajjah D; Péanne R; Matthijs G; Raymond K; Jaeken J; Morava E; Foulquier F
Electrophoresis; 2018 Dec; 39(24):3133-3141. PubMed ID: 29947113
[TBL] [Abstract][Full Text] [Related]
15. COG6-CDG: Novel variants and novel malformation.
Cirnigliaro L; Bianchi P; Sturiale L; Garozzo D; Mangili G; Keldermans L; Rizzo R; Matthijs G; Fiumara A; Jaeken J; Barone R
Birth Defects Res; 2022 Mar; 114(5-6):165-174. PubMed ID: 35068072
[TBL] [Abstract][Full Text] [Related]
16. Golgi inCOGnito: From vesicle tethering to human disease.
D'Souza Z; Taher FS; Lupashin VV
Biochim Biophys Acta Gen Subj; 2020 Nov; 1864(11):129694. PubMed ID: 32730773
[TBL] [Abstract][Full Text] [Related]
17. Case Report: Compound Heterozygous Variants of the
Zhalsanova IZ; Ravzhaeva EG; Postrigan AE; Seitova GN; Zhigalina DI; Udalova VY; Danina MM; Kanivets IV; Skryabin NA
Int J Mol Sci; 2022 Sep; 23(18):. PubMed ID: 36142510
[TBL] [Abstract][Full Text] [Related]
18. Translational balancing questioned: Unaltered glycosylation during disulfiram treatment in mannosyl-oligosaccharide alpha-1,2-mannnosidase-congenital disorders of glycosylation (MAN1B1-CDG).
Kemme L; Grüneberg M; Reunert J; Rust S; Park J; Westermann C; Wada Y; Schwartz O; Marquardt T
JIMD Rep; 2021 Jul; 60(1):42-55. PubMed ID: 34258140
[TBL] [Abstract][Full Text] [Related]
19. CCDC115-CDG: A new rare and misleading inherited cause of liver disease.
Girard M; Poujois A; Fabre M; Lacaille F; Debray D; Rio M; Fenaille F; Cholet S; Ruel C; Caussé E; Selves J; Bridoux-Henno L; Woimant F; Dupré T; Vuillaumier-Barrot S; Seta N; Alric L; de Lonlay P; Bruneel A
Mol Genet Metab; 2018 Jul; 124(3):228-235. PubMed ID: 29759592
[TBL] [Abstract][Full Text] [Related]
20. Getting Sugar Coating Right! The Role of the Golgi Trafficking Machinery in Glycosylation.
D'Souza Z; Sumya FT; Khakurel A; Lupashin V
Cells; 2021 Nov; 10(12):. PubMed ID: 34943782
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
