Neurological Aspects of Human Glycosylation Disorders

Hudson H. Freeze, Erik Eklund, Bobby G. Ng, Marc C. Patterson

Research output: Contribution to journalReview articlepeer-review

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.
Original languageEnglish
Pages (from-to)105
JournalAnnual Review of Neuroscience
Volume38
DOIs
Publication statusPublished - 2015

Subject classification (UKÄ)

  • Neurosciences

Free keywords

  • glycans
  • congenital disorders
  • epilepsy
  • seizures
  • glycoprotein
  • CDG

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