Publications:

Getting Sugar Coating Right! The Role of the Golgi Trafficking Machinery in Glycosylation.

Cells

D'Souza, Zinia Z; Sumya, Farhana Taher FT; Khakurel, Amrita A; Lupashin, Vladimir V

Publication Date: 2021-11-23

Variant appearance in text: GTC90: 1856T>C

PubMed Link: 34943782

Variant Present in the following documents:

• Main text
• cells-10-03275.pdf

View BVdb publication page

Getting Sugar Coating Right! The Role of the Golgi Trafficking Machinery in Glycosylation.

Cells

D'Souza, Zinia Z; Sumya, Farhana Taher FT; Khakurel, Amrita A; Lupashin, Vladimir V

Publication Date: 2021-11-23

Variant appearance in text: GTC90: 1856T>C

PubMed Link: 34943782

Variant Present in the following documents:

• Main text
• cells-10-03275.pdf

View BVdb publication page

Golgi inCOGnito: From vesicle tethering to human disease.

Biochimica Et Biophysica Acta. General Subjects

D'Souza, Zinia Z; Taher, Farhana S FS; Lupashin, Vladimir V VV

Publication Date: 2020-11

Variant appearance in text: COG5: 1856T>C

PubMed Link: 32730773

Variant Present in the following documents:

• main.pdf

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Novel compound heterozygous COG5 mutations in a Chinese male patient with severe clinical symptoms and type IIi congenital disorder of glycosylation: A case report.

Experimental And Therapeutic Medicine

Yin, Shaowei S; Gong, Liying L; Qiu, Hao H; Zhao, Yan Y; Zhang, Yan Y; Liu, Caixia C; Jiang, Hongkun H; Mao, Yan Y; Kong, Ling-Yin LY; Liang, Bo B; Lv, Yuan Y

Publication Date: 2019-10

Variant appearance in text: COG5: 1856T>C

PubMed Link: 31572517

Variant Present in the following documents:

• Main text

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COG5-CDG with a Mild Neurohepatic Presentation.

Jimd Reports

Fung, C W CW; Matthijs, G G; Sturiale, L L; Garozzo, D D; Wong, K Y KY; Wong, R R; Wong, V V; Jaeken, J J

Publication Date: 2012

Variant appearance in text: COG5: 1856T>C

PubMed Link: 23430875

Variant Present in the following documents:

• Main text

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