Journal article
Gain of glycosylation: a new pathomechanism of myelin protein zero mutations
Annals of neurology, Vol.71(3), pp.427-431
03/2012
DOI: 10.1002/ana.22695
PMCID: PMC3315062
PMID: 22451207
Abstract
We report the first case of a missense mutation in MPZ causing a gain of glycosylation in myelin protein zero, the main protein of peripheral nervous system myelin. The patient was affected by a severe demyelinating neuropathy caused by a missense mutation, D32N, that created a new glycosylation sequence. We confirmed that the mutant protein is hyperglycosylated, is partially retained into the Golgi apparatus in vitro, and disrupts intercellular adhesion. By sequential experiments, we demonstrated that hyperglycosylation is the main mechanism of this mutation. Gain of glycosylation is a new mechanism in Charcot-Marie-Tooth type 1B.
Details
- Title: Subtitle
- Gain of glycosylation: a new pathomechanism of myelin protein zero mutations
- Creators
- Valeria Prada - Department of Neurosciences, Ophthalmology, and Genetics, University of Genoa, Genoa, ItalyMario PassalacquaMaria BonoPaola LuzziSara ScazzolaLucilla Alessandra NobbioSimona CapponiEmilia BellonePaola MandichGianluigi MancardiMichael ShyAngelo SchenoneMarina Grandis
- Resource Type
- Journal article
- Publication Details
- Annals of neurology, Vol.71(3), pp.427-431
- Publisher
- United States
- DOI
- 10.1002/ana.22695
- PMID
- 22451207
- PMCID
- PMC3315062
- ISSN
- 0364-5134
- eISSN
- 1531-8249
- Grant note
- GGP06178 / Telethon R01 NS041319 / NINDS NIH HHS R01 NS41319A / NINDS NIH HHS R01 NS041319-01 / NINDS NIH HHS
- Language
- English
- Date published
- 03/2012
- Academic Unit
- Neurology; Molecular Physiology and Biophysics; Stead Family Department of Pediatrics; Iowa Neuroscience Institute
- Record Identifier
- 9984013922502771
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