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Neurological Aspects of Human Glycosylation Disorders

Freeze, Hudson H.; Eklund, Erik LU ; Ng, Bobby G. and Patterson, Marc C. (2015) In Annual Review of Neuroscience 38. p.105-105
Abstract
This review presents principles of glycosylation, describes the relevant glycosylation pathways and their related disorders, and highlights some of the neurological aspects and issues that continue to challenge researchers. More than 100 rare human genetic disorders that result from deficiencies in the different glycosylation pathways are known today. Most of these disorders impact the central and/or peripheral nervous systems. Patients typically have developmental delays/intellectual disabilities, hypotonia, seizures, neuropathy, and metabolic abnormalities in multiple organ systems. Among these disorders there is great clinical diversity because all cell types differentially glycosylate proteins and lipids. The patients have hundreds of... (More)
This review presents principles of glycosylation, describes the relevant glycosylation pathways and their related disorders, and highlights some of the neurological aspects and issues that continue to challenge researchers. More than 100 rare human genetic disorders that result from deficiencies in the different glycosylation pathways are known today. Most of these disorders impact the central and/or peripheral nervous systems. Patients typically have developmental delays/intellectual disabilities, hypotonia, seizures, neuropathy, and metabolic abnormalities in multiple organ systems. Among these disorders there is great clinical diversity because all cell types differentially glycosylate proteins and lipids. The patients have hundreds of misglycosylated products, which afflict a myriad of processes, including cell signaling, cell-cell interaction, and cell migration. This vast complexity in glycan composition and function, along with the limited availability of analytic tools, has impeded the identification of key glycosylated molecules that cause pathologies. To date, few critical target proteins have been pinpointed. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
glycans, congenital disorders, epilepsy, seizures, glycoprotein, CDG
in
Annual Review of Neuroscience
volume
38
pages
105 - 105
publisher
Annual Reviews
external identifiers
  • wos:000358485000006
  • scopus:84937434499
ISSN
0147-006X
DOI
10.1146/annurev-neuro-071714-034019
language
English
LU publication?
yes
id
a19b98d2-af27-4bd1-b654-73acc999fcab (old id 7779536)
date added to LUP
2015-09-01 16:08:31
date last changed
2017-11-19 03:16:00
@article{a19b98d2-af27-4bd1-b654-73acc999fcab,
  abstract     = {This review presents principles of glycosylation, describes the relevant glycosylation pathways and their related disorders, and highlights some of the neurological aspects and issues that continue to challenge researchers. More than 100 rare human genetic disorders that result from deficiencies in the different glycosylation pathways are known today. Most of these disorders impact the central and/or peripheral nervous systems. Patients typically have developmental delays/intellectual disabilities, hypotonia, seizures, neuropathy, and metabolic abnormalities in multiple organ systems. Among these disorders there is great clinical diversity because all cell types differentially glycosylate proteins and lipids. The patients have hundreds of misglycosylated products, which afflict a myriad of processes, including cell signaling, cell-cell interaction, and cell migration. This vast complexity in glycan composition and function, along with the limited availability of analytic tools, has impeded the identification of key glycosylated molecules that cause pathologies. To date, few critical target proteins have been pinpointed.},
  author       = {Freeze, Hudson H. and Eklund, Erik and Ng, Bobby G. and Patterson, Marc C.},
  issn         = {0147-006X},
  keyword      = {glycans,congenital disorders,epilepsy,seizures,glycoprotein,CDG},
  language     = {eng},
  pages        = {105--105},
  publisher    = {Annual Reviews},
  series       = {Annual Review of Neuroscience},
  title        = {Neurological Aspects of Human Glycosylation Disorders},
  url          = {http://dx.doi.org/10.1146/annurev-neuro-071714-034019},
  volume       = {38},
  year         = {2015},
}