ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients (Q29147535)

GOA release 2020-03-11

protein glycosylation

1 reference

GOA release 2020-03-11

Amy C. Yang

57

0 references

Martin Kircher

Martin Kircher

6

0 references

Jay Shendure

45

University of Washington Center for Mendelian Genomics

Jay Shendure

1 reference

4 April 2017

58

University of Washington Center for Mendelian Genomics

1 reference

4 April 2017

39

Deborah A. Nickerson

1 reference

4 April 2017

Daniel Katz

32

0 references

Rebecca D Ganetzky

Rebecca Ganetzky

26

0 references

Katherine L Lachlan

Katherine Lachlan

36

0 references

Luísa Diogo

Luisa Diogo

21

0 references

Rita Barone

Rita Barone

11

0 references

Gert Matthijs

Gert Matthijs

59

0 references

Joy Yaplito-Lee

38

Joy Yaplito-Lee

1 reference

4 April 2017

10

Michael J. Bamshad

1 reference

4 April 2017

60

Hudson H. Freeze

1 reference

4 April 2017

14

Kati J. Buckingham

1 reference

4 April 2017

5

Kimiyo Raymond

1 reference

4 April 2017

7

Jose E. Abdenur

1 reference

4 April 2017

56

Tim Wood

1 reference

4 April 2017

12

Gerard T. Berry

1 reference

4 April 2017

Bobby G. Ng

1

1 reference

4 April 2017

Sergey A. Shiryaev

2

1 reference

4 April 2017

Daisy Rymen

3

1 reference

4 April 2017

Erik A. Eklund

4

1 reference

4 April 2017

Fusun Alehan

8

1 reference

4 April 2017

Alina T. Midro

9

1 reference

4 April 2017

Jane E. Brumbaugh

13

1 reference

4 April 2017

Katie Clarkson

15

1 reference

4 April 2017

F. Sessions Cole

16

1 reference

4 April 2017

Shawn O'Connor

17

1 reference

4 April 2017

Gregory M. Cooper

18

1 reference

4 April 2017

Rudy Van Coster

19

1 reference

4 April 2017

Laurie A. Demmer

20

1 reference

4 April 2017

Alexander J. Fay

22

1 reference

4 April 2017

Can Ficicioglu

23

1 reference

4 April 2017

Agata Fiumara

24

1 reference

4 April 2017

William A. Gahl

25

1 reference

4 April 2017

Himanshu Goel

27

1 reference

4 April 2017

Lyndsay A. Harshman

28

1 reference

4 April 2017

Miao He

29

1 reference

4 April 2017

Jaak Jaeken

30

1 reference

4 April 2017

Philip M. James

31

1 reference

4 April 2017

Liesbeth Keldermans

33

1 reference

4 April 2017

Maria Kibaek

34

1 reference

4 April 2017

Andrew J. Kornberg

35

1 reference

4 April 2017

Christina Lam

37

1 reference

4 April 2017

Heidi L. Peters

40

1 reference

4 April 2017

Valerie Race

41

1 reference

4 April 2017

Luc Régal

42

1 reference

4 April 2017

Jeffrey S. Rush

43

1 reference

4 April 2017

S. Lane Rutledge

44

1 reference

4 April 2017

Erika Souche

46

1 reference

4 April 2017

Susan E. Sparks

47

1 reference

4 April 2017

Pamela Trapane

48

1 reference

4 April 2017

Amarilis Sanchez-Valle

49

1 reference

4 April 2017

Eric Vilain

50

1 reference

4 April 2017

Arve Vøllo

51

1 reference

4 April 2017

Charles J. Waechter

52

1 reference

4 April 2017

Raymond Y. Wang

53

1 reference

4 April 2017

Lynne A. Wolfe

54

1 reference

4 April 2017

Derek A. Wong

Neurological aspects of human glycosylation disorders

55

1 reference

4 April 2017

1 July 2016

1 reference

4 April 2017

1 reference

4 April 2017

37

1 reference

4 April 2017

653–660

1 reference

4 April 2017

7

1 reference

4 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4907823

Physical interactions between the Alg1, Alg2, and Alg11 mannosyltransferases of the endoplasmic reticulum

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4907823

Congenital disorder of glycosylation type Ik (CDG-Ik): a defect of mannosyltransferase I

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4907823

Deficiency of GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase causes congenital disorder of glycosylation type Ik.

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4907823

Temperature-sensitive yeast mutants deficient in asparagine-linked glycosylation.

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4907823

Cloning and expression in Escherichia coli of a yeast mannosyltransferase from the asparagine-linked glycosylation pathway

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4907823

A general framework for estimating the relative pathogenicity of human genetic variants

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4907823

A Novel N-Tetrasaccharide in Patients with Congenital Disorders of Glycosylation, Including Asparagine-Linked Glycosylation Protein 1, Phosphomannomutase 2, and Mannose Phosphate Isomerase Deficiencies

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4907823

Serum transferrin carrying the xeno-tetrasaccharide NeuAc-Gal-GlcNAc2 is a biomarker of ALG1-CDG.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4907823

Solving glycosylation disorders: fundamental approaches reveal complicated pathways

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4907823

ALG1-CDG: a new case with early fatal outcome

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4907823

Congenital myasthenic syndromes due to mutations in ALG2 and ALG14.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4907823

Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutations

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4907823

Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4907823

Neurology of inherited glycosylation disorders

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4907823

Congenital disorder of glycosylation: a case presentation

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4907823

O-GlcNAc-specific antibody CTD110.6 cross-reacts with N-GlcNAc2-modified proteins induced under glucose deprivation

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4907823

Deficiency of the first mannosylation step in the N-glycosylation pathway causes congenital disorder of glycosylation type Ik.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4907823

Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations

3 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FHUMU.22983

N-glycosylation by transfer of GlcNAc2 from dolichol-PP-GlcNAc2 to the protein moiety of the major yeast exoglucanase.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4907823