Iron dysregulation in movement disorders

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F12%3A11491" target="_blank" >RIV/00216208:11110/12:11491 - isvavai.cz</a>

Alternative codes found

RIV/00064165:_____/12:11491

Result on the web

<a href="http://dx.doi.org/10.1016/j.nbd.2011.12.054" target="_blank" >http://dx.doi.org/10.1016/j.nbd.2011.12.054</a>

DOI - Digital Object Identifier

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Result language

angličtina

Original language name

Iron dysregulation in movement disorders

Original language description

Iron is an essential element necessary for energy production, DNA and neurotransmitter synthesis, myelination and phospholipid metabolism. Neurodegeneration with brain iron accumulation (NBIA) involves several genetic disorders, two of which, aceruloplasminemia and neuroferritinopathy, are caused by mutations in genes directly involved in iron metabolic pathway, and others, such as pantothenate-kinase 2, phospholipase-A2 and fatty acid 2-hydroxylase associated neurodegeneration, are caused by mutationsin genes coding for proteins involved in phospholipid metabolism. Phospholipids are major constituents of myelin and iron accumulation has been linked to myelin derangements. Another group of NBIAs is caused by mutations in lysosomal enzymes or transporters such as ATP13A2, mucolipin-1 and possibly beta-galactosidase and alpha-fucosidase. Increased cellular iron uptake in these diseases may be caused by impaired recycling of iron which normally involves lysosomes. Abnormal iron utilizati

Czech name

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Czech description

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Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

FH - Neurology, neuro-surgery, nuero-sciences

OECD FORD branch

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Project

<a href="/en/project/NT12282" target="_blank" >NT12282: Pathophysiological mechanisms of neuromodulation therapy in dystonia</a><br>

Continuities

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)<br>Z - Vyzkumny zamer (s odkazem do CEZ)

Publication year

2012

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Neurobiology of Disease

ISSN

0969-9961

e-ISSN

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Volume of the periodical

46

Issue of the periodical within the volume

1

Country of publishing house

GB - UNITED KINGDOM

Number of pages

18

Pages from-to

1-18

UT code for WoS article

000301898100001

EID of the result in the Scopus database

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