A mutation in the human MPDU1 gene causes congenital disorder of glycosylation type If (CDG-If) (Q24564917)

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Language	Label	Description	Also known as
English	A mutation in the human MPDU1 gene causes congenital disorder of glycosylation type If (CDG-If)	scientific article

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instance of

scholarly article

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title

A mutation in the human MPDU1 gene causes congenital disorder of glycosylation type If (CDG-If) (English)

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main subject

congenital disorder

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glycosylation

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based on heuristic

inferred from title

congenital disorder

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based on heuristic

inferred from title

congenital disorder of glycosylation

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based on heuristic

inferred from title

author name string

C Kranz

series ordinal

1

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J Denecke

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2

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M A Lehrman

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3

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S Ray

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4

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P Kienz

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5

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G Kreissel

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6

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D Sagi

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7

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J Peter-Katalinic

series ordinal

8

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H H Freeze

series ordinal

9

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T Schmid

series ordinal

10

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S Jackowski-Dohrmann

series ordinal

11

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E Harms

series ordinal

12

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T Marquardt

series ordinal

13

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language of work or name

English

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publication date

December 2001

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published in

Journal of Clinical Investigation

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volume

108

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issue

11

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page(s)

1613-9

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cites work

Requirement of the Lec35 gene for all known classes of monosaccharide-P-dolichol-dependent glycosyltransferase reactions in mammals

1 reference

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PubMed Central

reference URL

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Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy

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24 March 2017

Congenital disorders of glycosylation: glycosylation defects in man and biological models for their study

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PubMed Central

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27 September 2017

Correction of leukocyte adhesion deficiency type II with oral fucose

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PubMed Central

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27 September 2017

Truncated N-glycans affect protein folding in the ER of CHO-derived mutant cell lines without preventing calnexin binding

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27 September 2017

Sequencing of N-Linked Oligosaccharides Directly from Protein Gels: In-Gel Deglycosylation Followed by Matrix-Assisted Laser Desorption/Ionization Mass Spectrometry and Normal-Phase High-Performance Liquid Chromatography

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27 September 2017

Expression cloning of a novel suppressor of the Lec15 and Lec35 glycosylation mutations of Chinese hamster ovary cells

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27 September 2017

Pleiotropic resistance to glycoprotein processing inhibitors in Chinese hamster ovary cells. The role of a novel mutation in the asparagine-linked glycosylation pathway.

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PubMed Central

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30 May 2018

A block at Man5GlcNAc2-pyrophosphoryldolichol in intact but not disrupted castanospermine and swainsonine-resistant Chinese hamster ovary cells.

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30 May 2018

Discontinuation of fucose therapy in LADII causes rapid loss of selectin ligands and rise of leukocyte counts

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28 November 2018

A general approach to desalting oligosaccharides released from glycoproteins

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reference URL

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retrieved

12 December 2020

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Defective mannosylation of glycosylphosphatidylinositol in Lec35 Chinese hamster ovary cells

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reference URL

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retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1172/JCI13635

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PMC publication ID

200991

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PubMed publication ID

11733556

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ResearchGate publication ID

11621897

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