A combined defect in the biosynthesis of N- and O-glycans in patients with cutis laxa and neurological involvement: the biochemical characteristics-Reference-Cited by-同舟云学术

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A combined defect in the biosynthesis of N- and O-glycans in patients with cutis laxa and neurological involvement: the biochemical characteristics

Published:2005-06 Issue:1-2 Volume:1741 Page:156-164
ISSN:0925-4439
Container-title:Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
language:en
Short-container-title:Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Author:

Wopereis Suzan,Morava Éva,Grünewald Stephanie,Mills Philippa B.,Winchester Bryan G.,Clayton Peter,Coucke Paul,Huijben Karin M.L.C.,Wevers Ron A.

Publisher

Elsevier BV

Subject

Molecular Biology,Molecular Medicine

Reference36 articles.

1. An apparent homozygous X-linked disorder with carbohydrate-deficient serum glycoproteins;Jaeken;Lancet,1987

2. Deficiency of UDP-galactose:N-acetylglucosamine beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId;Hansske;J. Clin. Invest.,2002

3. Identification and functional analysis of a defect in the human ALG9 gene: definition of congenital disorder of glycosylation type IL;Frank;Am. J. Hum. Genet.,2004

4. Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder;Wu;Nat. Med.,2004

5. Komrower Lecture, congenital disorders of glycosylation (CDG): it's all in it!;Jaeken;J. Inherit. Metab. Dis.,2003

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1. Golgi pH, Ion and Redox Homeostasis: How Much Do They Really Matter?;Frontiers in Cell and Developmental Biology;2019-06-11

2. Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica;International Journal of Molecular Sciences;2017-03-15

3. Heritable Diseases Affecting the Elastic Fibers;Emery and Rimoin's Principles and Practice of Medical Genetics;2013

4. Golgi pH, its regulation and roles in human disease;Annals of Medicine;2012-09

5. Mass spectrometry of apolipoprotein C-III, a simple analytical method for mucin-type O-glycosylation and its application to an autosomal recessive cutis laxa type-2 (ARCL2) patient;Glycobiology;2012-05-18

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