5 Hypomyelinating Leukodystrophy

mutation on hyccin (FAM126A)

Also Known As:

Leukodystrophy, Hypomyelinating, 5; Hypomyelination And Congenital Cataract

Networked: 5 relevant articles (0 outcomes, 0 trials/studies)

1.	Leukoencephalopathies

1.	Biancheri, Roberta: 4 articles (01/2012 - 10/2006)
2.	Gazzerro, Elisabetta: 4 articles (01/2012 - 10/2006)
3.	Minetti, Carlo: 4 articles (01/2012 - 10/2006)
4.	Zara, Federico: 4 articles (01/2012 - 10/2006)
5.	Lisanti, Michael P: 3 articles (01/2012 - 10/2006)
6.	Sotgia, Federica: 3 articles (01/2012 - 10/2006)
7.	Rossi, Andrea: 3 articles (09/2011 - 10/2006)
8.	van der Knaap, Marjo S: 3 articles (09/2011 - 10/2006)
9.	Bugiani, Marianna: 2 articles (09/2011 - 08/2007)
10.	Bordo, Laura: 2 articles (08/2007 - 10/2006)

Drugs and Important Biological Agents (IBA) related to 5 Hypomyelinating Leukodystrophy:

1.	Membrane Proteins (Integral Membrane Proteins)IBA 09/01/2011 - "To further delineate the clinical spectrum of hypomyelination and congenital cataract (HCC), a rare autosomal recessive white matter disorder due to deficiency of a membrane protein, hyccin, encoded by FAM126A. " 08/01/2007 - "To define the clinical and laboratory findings in a novel autosomal recessive white matter disorder called hypomyelination and congenital cataract, recently found to be caused by a deficiency of a membrane protein, hyccin, encoded by the DRCTNNB1A gene located on chromosome 7p21.3-p15.3. " 10/01/2006 - "Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract." 02/01/2008 - "Hypomyelination and congenital cataract (HCC) is an autosomal recessive white matter disease caused by deficiency of hyccin, a membrane protein implicated in both central and peripheral myelination. "
2.	Proteins (Proteins, Gene)FDA Link 01/01/2012 - "Hyccin, the molecule mutated in the leukodystrophy hypomyelination and congenital cataract (HCC), is a neuronal protein."