Understanding Human Glycosylation Disorders: Biochemistry Leads the Charge

Nearly 70 inherited human glycosylation disorders span a breathtaking clinical spectrum, impacting nearly every organ system and launching a family-driven diagnostic odyssey. Advances in genetics, especially next generation sequencing, propelled discovery of many glycosylation disorders in single an...

Full description

Saved in:
Bibliographic Details
Published inThe Journal of biological chemistry Vol. 288; no. 10; pp. 6936 - 6945
Main Author Freeze, Hudson H.
Format Journal Article
LanguageEnglish
Published United States Elsevier Inc 08.03.2013
American Society for Biochemistry and Molecular Biology
Subjects
Congenital Disorders of Glycosylation
Congenital Disorders of Glycosylation - diagnosis
Congenital Disorders of Glycosylation - genetics
Congenital Disorders of Glycosylation - metabolism
Dystroglycanopathy
Exome - genetics
Genetic Predisposition to Disease - genetics
Glycobiology
Glycosylation
Glycosylation Inhibitors
Glycosylphosphatidylinositols - metabolism
Glycosyltransferases
Golgi
GPI Anchor
Humans
Hypoglycemia - genetics
Liver - abnormalities
Liver - metabolism
Mannosyltransferases - genetics
Minireviews
Mutation
N-Glycosylation
Sequence Analysis, DNA - methods
Whole Exome Sequencing
GPI Anchor
Dystroglycanopathy
Glycobiology
Glycosylation Inhibitors
Congenital Disorders of Glycosylation
Glycosyltransferases
Glycosylation
Golgi
N-Glycosylation
Whole Exome Sequencing
Online AccessGet full text

Cover

More Information
Summary:Nearly 70 inherited human glycosylation disorders span a breathtaking clinical spectrum, impacting nearly every organ system and launching a family-driven diagnostic odyssey. Advances in genetics, especially next generation sequencing, propelled discovery of many glycosylation disorders in single and multiple pathways. Interpretation of whole exome sequencing results, insights into pathological mechanisms, and possible therapies will hinge on biochemical analysis of patient-derived materials and animal models. Biochemical diagnostic markers and readouts offer a physiological context to confirm candidate genes. Recent discoveries suggest novel perspectives for textbook biochemistry and novel research opportunities. Basic science and patients are the immediate beneficiaries of this bidirectional collaboration.
Bibliography:ObjectType-Article-2
SourceType-Scholarly Journals-1
ObjectType-Feature-3
content type line 23
ObjectType-Review-1
ISSN:0021-9258
1083-351X
DOI:10.1074/jbc.R112.429274