| pubmed-article:16378743 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:16378743 | lifeskim:mentions | umls-concept:C0023520 | lld:lifeskim |
| pubmed-article:16378743 | lifeskim:mentions | umls-concept:C0231335 | lld:lifeskim |
| pubmed-article:16378743 | lifeskim:mentions | umls-concept:C0927232 | lld:lifeskim |
| pubmed-article:16378743 | lifeskim:mentions | umls-concept:C0682708 | lld:lifeskim |
| pubmed-article:16378743 | lifeskim:mentions | umls-concept:C0004134 | lld:lifeskim |
| pubmed-article:16378743 | lifeskim:mentions | umls-concept:C0544820 | lld:lifeskim |
| pubmed-article:16378743 | lifeskim:mentions | umls-concept:C0597295 | lld:lifeskim |
| pubmed-article:16378743 | lifeskim:mentions | umls-concept:C1314792 | lld:lifeskim |
| pubmed-article:16378743 | lifeskim:mentions | umls-concept:C0205161 | lld:lifeskim |
| pubmed-article:16378743 | lifeskim:mentions | umls-concept:C2587213 | lld:lifeskim |
| pubmed-article:16378743 | lifeskim:mentions | umls-concept:C0205214 | lld:lifeskim |
| pubmed-article:16378743 | pubmed:issue | 1 | lld:pubmed |
| pubmed-article:16378743 | pubmed:dateCreated | 2006-4-24 | lld:pubmed |
| pubmed-article:16378743 | pubmed:abstractText | Mutations in eukaryotic initiation factor 2B (eIF2B) cause one of the most common leukodystrophies, childhood ataxia with CNS hypomyelination/vanishing white matter disease or CACH/VWM. Patients may develop a wide spectrum of neurological abnormalities from prenatal-onset white matter disease to juvenile or adult-onset ataxia and dementia, sometimes with ovarian insufficiency. The pattern of diffuse white matter abnormalities on MRI of the head is often diagnostic. Neuropathological abnormalities indicate a unique and selective disruption of oligodendrocytes and astrocytes with sparing of neurons. Marked decrease of asialo-transferrin in cerebrospinal fluid is the only biochemical abnormality identified thus far. Eukaryotic translation initiation factor 2B (eIF2B) mutations cause a decrease in guanine nucleotide exchange activity on eIF2-GDP, resulting in increased susceptibility to stress and enhanced ATF4 expression during endoplasmic reticulum stress. eIF2B mutations are speculated to lead to increased susceptibility to various physiological stress conditions. Future research will be directed towards understanding why abnormal control of protein translation predominantly affects brain glial cells. | lld:pubmed |
| pubmed-article:16378743 | pubmed:language | eng | lld:pubmed |
| pubmed-article:16378743 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16378743 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:16378743 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16378743 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:16378743 | pubmed:month | May | lld:pubmed |
| pubmed-article:16378743 | pubmed:issn | 1096-7192 | lld:pubmed |
| pubmed-article:16378743 | pubmed:author | pubmed-author:SchiffmannRap... | lld:pubmed |
| pubmed-article:16378743 | pubmed:author | pubmed-author:Elroy-SteinOr... | lld:pubmed |
| pubmed-article:16378743 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:16378743 | pubmed:volume | 88 | lld:pubmed |
| pubmed-article:16378743 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:16378743 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:16378743 | pubmed:pagination | 7-15 | lld:pubmed |
| pubmed-article:16378743 | pubmed:dateRevised | 2006-11-15 | lld:pubmed |
| pubmed-article:16378743 | pubmed:meshHeading | pubmed-meshheading:16378743... | lld:pubmed |
| pubmed-article:16378743 | pubmed:meshHeading | pubmed-meshheading:16378743... | lld:pubmed |
| pubmed-article:16378743 | pubmed:meshHeading | pubmed-meshheading:16378743... | lld:pubmed |
| pubmed-article:16378743 | pubmed:meshHeading | pubmed-meshheading:16378743... | lld:pubmed |
| pubmed-article:16378743 | pubmed:meshHeading | pubmed-meshheading:16378743... | lld:pubmed |
| pubmed-article:16378743 | pubmed:meshHeading | pubmed-meshheading:16378743... | lld:pubmed |
| pubmed-article:16378743 | pubmed:meshHeading | pubmed-meshheading:16378743... | lld:pubmed |
| pubmed-article:16378743 | pubmed:year | 2006 | lld:pubmed |
| pubmed-article:16378743 | pubmed:articleTitle | Childhood ataxia with CNS hypomyelination/vanishing white matter disease--a common leukodystrophy caused by abnormal control of protein synthesis. | lld:pubmed |
| pubmed-article:16378743 | pubmed:affiliation | Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA. RS4e@nih.gov | lld:pubmed |
| pubmed-article:16378743 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:16378743 | pubmed:publicationType | Research Support, U.S. Gov't, Non-P.H.S. | lld:pubmed |
| pubmed-article:16378743 | pubmed:publicationType | Review | lld:pubmed |
| pubmed-article:16378743 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| pubmed-article:16378743 | pubmed:publicationType | Research Support, N.I.H., Intramural | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:16378743 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:16378743 | lld:pubmed |
