ORCID Profile
0000-0001-6316-0501
Current Organisations
University of California, San Diego
,
Sanford Burnham Prebys Medical Discovery Institute
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Publisher: Elsevier BV
Date: 04-2013
Publisher: Informa UK Limited
Date: 08-2007
DOI: 10.1128/MCB.00802-07
Publisher: Hindawi Limited
Date: 2000
DOI: 10.1002/1098-1004(200009)16:3<247::AID-HUMU7>3.0.CO;2-A
Publisher: Annual Reviews
Date: 08-07-2015
DOI: 10.1146/ANNUREV-NEURO-071714-034019
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 ersity 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.
Publisher: Elsevier BV
Date: 05-2012
Publisher: Oxford University Press (OUP)
Date: 05-11-2015
Publisher: Hindawi Limited
Date: 21-03-2016
DOI: 10.1002/HUMU.22983
Location: United States of America
Location: United States of America
Location: United States of America
Location: United States of America
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