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EXTL3 protein, human

Known as: Hereditary Multiple Exostoses Gene Isolog, exostoses (multiple)-like 3 protein, human, EXTL3 
Exostosin-like 3 (919, ~105 kDa) is encoded by the human EXTL3 gene. This protein is involved in protein glycosylation and the unfolded protein… 
National Institutes of Health

Related topics

Related topics

8 relations
Carbohydrate MetabolismEXTL3 geneEnzyme GeneGlycosyltransferase Gene

Broader (1)

N-Acetylglucosaminyltransferases

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2018
Highly Cited
2018
Specific glycosaminoglycan chain length and sulfation patterns are required for cell uptake of tau versus α-synuclein and β-amyloid aggregates
Transcellular propagation of protein aggregate “seeds” has been proposed to mediate the progression of neurodegenerative diseases… 
Highly Cited
2017
Highly Cited
2017
EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay
We studied three patients with severe skeletal dysplasia, T cell immunodeficiency, and developmental delay. Whole-exome… 
2017
2017
Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.
2014
2014
Heparan Sulfate Containing Unsubstituted Glucosamine Residues
Background: The function and biosynthetic mechanism of GlcNH3+ in heparan sulfate remain unclear. Results: GlcNH3+-containing… 
Highly Cited
2012
Highly Cited
2012
The antimicrobial protein REG3A regulates keratinocyte proliferation and differentiation after skin injury.
2011
2011
Regenerating Islet-derived 1α (Reg-1α) Protein Is New Neuronal Secreted Factor That Stimulates Neurite Outgrowth via Exostosin Tumor-like 3 (EXTL3) Receptor*
Background: Reg-1α is a small secretory protein overexpressed during the early stages of Alzheimer disease. Results: Secreted Reg… 
2010
2010
Gene silencing of EXTL2 and EXTL3 as a substrate deprivation therapy for heparan sulphate storing mucopolysaccharidoses
Neurological pathology is characteristic of the mucopolysaccharidoses (MPSs) that store heparan sulphate (HS) glycosaminoglycan… 
Highly Cited
2007
Highly Cited
2007
Contribution of EXT1, EXT2, and EXTL3 to Heparan Sulfate Chain Elongation*
The exostosin (EXT) family of genes encodes glycosyltransferases involved in heparan sulfate biosynthesis. Five human members of… 
Highly Cited
2004
Highly Cited
2004
Axon Sorting in the Optic Tract Requires HSPG Synthesis by ext2 (dackel) and extl3 (boxer)
Highly Cited
2001
Highly Cited
2001
Human tumor suppressor EXT gene family members EXTL1 and EXTL3 encode α1,4- N-acetylglucosaminyltransferases that likely are involved in heparan sulfate/ heparin biosynthesis
The tumor suppressors EXT1 and EXT2 are associated with hereditary multiple exostoses and encode bifunctional… 
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