Published September 3, 2006
| Version v1
Journal article
Open
Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract
Authors/Creators
- Zara, Federico
- Biancheri, Roberta
- Bruno, Claudio
- Bordo, Laura
- Assereto, Stefania
- Gazzerro, Elisabetta
- Sotgia, Federica
- Wang, Xiao Bo
- Gianotti, Stefania
- Stringara, Silvia
- Pedemonte, Marina
- Uziel, Graziella
- Rossi, Andrea
- Schenone, Angelo
- Tortori-Donati, Paolo
- van der Knaap, Marjo S.
- Lisanti, Michael P.
- Minetti, Carlo
Description
We describe a new autosomal recessive white matter disorder ('hypomyelination and congenital cataract') characterized by hypomyelination of the central and peripheral nervous system, progressive neurological impairment and congenital cataract. We identified mutations in five affected families, resulting in a deficiency of hyccin, a newly identified 521-amino acid membrane protein. Our study highlights the essential role of hyccin in central and peripheral myelination.
Files
article.pdf
Files
(298.1 kB)
| Name | Size | Download all |
|---|---|---|
|
md5:cc8d5e997dde0569c6c67a22382b6432
|
298.1 kB | Preview Download |