434 related articles for article (PubMed ID: 24784932)
1. 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]
2. 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]
3. Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking.
Duan R; Marafi D; Xia ZJ; Ng BG; Maroofian R; Sumya FT; Saad AK; Du H; Fatih JM; Hunter JV; Elbendary HM; Baig SM; Abdullah U; Ali Z; Efthymiou S; Murphy D; Mitani T; Withers MA; Jhangiani SN; Coban-Akdemir Z; Calame DG; Pehlivan D; Gibbs RA; Posey JE; Houlden H; Lupashin VV; Zaki MS; Freeze HH; Lupski JR
J Inherit Metab Dis; 2023 Nov; 46(6):1195-1205. PubMed ID: 37711075
[TBL] [Abstract][Full Text] [Related]
4. Mutations in proteins of the Conserved Oligomeric Golgi Complex affect polarity, cell wall structure, and glycosylation in the filamentous fungus Aspergillus nidulans.
Gremillion SK; Harris SD; Jackson-Hayes L; Kaminskyj SG; Loprete DM; Gauthier AC; Mercer S; Ravita AJ; Hill TW
Fungal Genet Biol; 2014 Dec; 73():69-82. PubMed ID: 25312861
[TBL] [Abstract][Full Text] [Related]
5. Further delineation of COG8-CDG: A case with novel compound heterozygous mutations diagnosed by targeted exome sequencing.
Yang A; Cho SY; Jang JH; Kim J; Kim SZ; Lee BH; Yoo HW; Jin DK
Clin Chim Acta; 2017 Aug; 471():191-195. PubMed ID: 28619360
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Compound heterozygous variants of the COG6 gene in a Chinese patient with deficiency of subunit 6 of the conserved oligomeric Golgi complex (COG6-CDG).
Li G; Xu Y; Hu X; Li N; Yao R; Yu T; Wang X; Guo W; Wang J
Eur J Med Genet; 2019 Jan; 62(1):44-46. PubMed ID: 29709711
[TBL] [Abstract][Full Text] [Related]
8. Deficiency in COG5 causes a moderate form of congenital disorders of glycosylation.
Paesold-Burda P; Maag C; Troxler H; Foulquier F; Kleinert P; Schnabel S; Baumgartner M; Hennet T
Hum Mol Genet; 2009 Nov; 18(22):4350-6. PubMed ID: 19690088
[TBL] [Abstract][Full Text] [Related]
9. Identification of the first COG-CDG patient of Indian origin.
Ng BG; Sharma V; Sun L; Loh E; Hong W; Tay SK; Freeze HH
Mol Genet Metab; 2011 Mar; 102(3):364-7. PubMed ID: 21185756
[TBL] [Abstract][Full Text] [Related]
10. How Golgi glycosylation meets and needs trafficking: the case of the COG complex.
Reynders E; Foulquier F; Annaert W; Matthijs G
Glycobiology; 2011 Jul; 21(7):853-63. PubMed ID: 21112967
[TBL] [Abstract][Full Text] [Related]
11. Fatal outcome due to deficiency of subunit 6 of the conserved oligomeric Golgi complex leading to a new type of congenital disorders of glycosylation.
Lübbehusen J; Thiel C; Rind N; Ungar D; Prinsen BH; de Koning TJ; van Hasselt PM; Körner C
Hum Mol Genet; 2010 Sep; 19(18):3623-33. PubMed ID: 20605848
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Differential effects of lobe A and lobe B of the Conserved Oligomeric Golgi complex on the stability of {beta}1,4-galactosyltransferase 1 and {alpha}2,6-sialyltransferase 1.
Peanne R; Legrand D; Duvet S; Mir AM; Matthijs G; Rohrer J; Foulquier F
Glycobiology; 2011 Jul; 21(7):864-76. PubMed ID: 21062782
[TBL] [Abstract][Full Text] [Related]
14. COG1-congenital disorders of glycosylation: Milder presentation and review.
Salazar M; Miyake N; Silva S; Solar B; Papazoglu GM; Asteggiano CG; Matsumoto N
Clin Genet; 2021 Sep; 100(3):318-323. PubMed ID: 33960418
[TBL] [Abstract][Full Text] [Related]
15. Deficiencies in subunits of the Conserved Oligomeric Golgi (COG) complex define a novel group of Congenital Disorders of Glycosylation.
Zeevaert R; Foulquier F; Jaeken J; Matthijs G
Mol Genet Metab; 2008 Jan; 93(1):15-21. PubMed ID: 17904886
[TBL] [Abstract][Full Text] [Related]
16. Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.
Timal S; Hoischen A; Lehle L; Adamowicz M; Huijben K; Sykut-Cegielska J; Paprocka J; Jamroz E; van Spronsen FJ; Körner C; Gilissen C; Rodenburg RJ; Eidhof I; Van den Heuvel L; Thiel C; Wevers RA; Morava E; Veltman J; Lefeber DJ
Hum Mol Genet; 2012 Oct; 21(19):4151-61. PubMed ID: 22492991
[TBL] [Abstract][Full Text] [Related]
17. The first case of antenatal presentation in COG8-congenital disorder of glycosylation with a novel splice site mutation and an extended phenotype.
Arora V; Puri RD; Bhai P; Sharma N; Bijarnia-Mahay S; Dimri N; Baijal A; Saxena R; Verma I
Am J Med Genet A; 2019 Mar; 179(3):480-485. PubMed ID: 30690882
[TBL] [Abstract][Full Text] [Related]
18. Genetic analysis and prenatal diagnosis in a Chinese with growth retardation, abnormal liver function, and microcephaly.
Zhao P; Zhang L; Tan L; Luo S; Huang Y; Peng H; Cao J; He X
Mol Genet Genomic Med; 2021 Sep; 9(9):e1751. PubMed ID: 34331832
[TBL] [Abstract][Full Text] [Related]
19. COG5-CDG: expanding the clinical spectrum.
Rymen D; Keldermans L; Race V; Régal L; Deconinck N; Dionisi-Vici C; Fung CW; Sturiale L; Rosnoblet C; Foulquier F; Matthijs G; Jaeken J
Orphanet J Rare Dis; 2012 Dec; 7():94. PubMed ID: 23228021
[TBL] [Abstract][Full Text] [Related]
20. COG defects, birth and rise!
Foulquier F
Biochim Biophys Acta; 2009 Sep; 1792(9):896-902. PubMed ID: 19028570
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]