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rdf:type |
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lifeskim:mentions |
umls-concept:C0006684,
umls-concept:C0006685,
umls-concept:C0178719,
umls-concept:C0201925,
umls-concept:C0220908,
umls-concept:C0288263,
umls-concept:C0547047,
umls-concept:C0750502,
umls-concept:C0815000,
umls-concept:C1099354,
umls-concept:C1413495,
umls-concept:C1707391,
umls-concept:C1709060
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pubmed:issue |
2
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pubmed:dateCreated |
2010-12-27
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pubmed:abstractText |
Defects of the CLN3 gene on chromosome 16p12.1 lead to the juvenile form of neuronal ceroid-lipofuscinosis (JNCL, Batten Disease), the most common recessive inherited neurodegenerative disorder in children. Dysregulation of intracellular calcium homeostasis in the absence of a functional CLN3 protein (CLN3P, Battenin) has been linked to synaptic dysfunction and accelerated apoptosis in vulnerable neuronal cells. Prolonged increase of intracellular calcium concentration is considered to be a significant trigger for neuronal apoptosis and cellular loss in JNCL.
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pubmed:grant |
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/20933060-10191116,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20933060-12189165,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20933060-12528813,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20933060-15047975,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20933060-15094366,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20933060-15207850,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20933060-15240864,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20933060-15657902,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20933060-15897264,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20933060-16515873,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20933060-16941499,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20933060-17036287,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20933060-17189291,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20933060-17237713,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20933060-17656100,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20933060-18317235,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20933060-18688960,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20933060-18817525,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20933060-18948203,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20933060-19084560,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20933060-19941651,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20933060-19944012,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20933060-3838314,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20933060-7553855
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
http://linkedlifedata.com/resource/pubmed/chemical/3-Pyridinecarboxylic acid...,
http://linkedlifedata.com/resource/pubmed/chemical/Amlodipine,
http://linkedlifedata.com/resource/pubmed/chemical/CLN3 protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/Calcium,
http://linkedlifedata.com/resource/pubmed/chemical/Calcium Channel Blockers,
http://linkedlifedata.com/resource/pubmed/chemical/Calcium Channels, L-Type,
http://linkedlifedata.com/resource/pubmed/chemical/Flunarizine,
http://linkedlifedata.com/resource/pubmed/chemical/Membrane Glycoproteins,
http://linkedlifedata.com/resource/pubmed/chemical/Molecular Chaperones,
http://linkedlifedata.com/resource/pubmed/chemical/Nicardipine,
http://linkedlifedata.com/resource/pubmed/chemical/Nifedipine,
http://linkedlifedata.com/resource/pubmed/chemical/Nimodipine,
http://linkedlifedata.com/resource/pubmed/chemical/Potassium Chloride,
http://linkedlifedata.com/resource/pubmed/chemical/RNA, Small Interfering
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pubmed:status |
MEDLINE
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pubmed:month |
Feb
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pubmed:issn |
0006-3002
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pubmed:author |
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pubmed:copyrightInfo |
Copyright © 2010 Elsevier B.V. All rights reserved.
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pubmed:issnType |
Print
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pubmed:volume |
1810
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
186-91
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pubmed:dateRevised |
2011-7-28
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pubmed:meshHeading |
pubmed-meshheading:20933060-3-Pyridinecarboxylic acid...,
pubmed-meshheading:20933060-Amlodipine,
pubmed-meshheading:20933060-Blotting, Western,
pubmed-meshheading:20933060-Calcium,
pubmed-meshheading:20933060-Calcium Channel Blockers,
pubmed-meshheading:20933060-Calcium Channels, L-Type,
pubmed-meshheading:20933060-Cell Line, Tumor,
pubmed-meshheading:20933060-Child,
pubmed-meshheading:20933060-Drug Evaluation, Preclinical,
pubmed-meshheading:20933060-Flunarizine,
pubmed-meshheading:20933060-Humans,
pubmed-meshheading:20933060-Intracellular Space,
pubmed-meshheading:20933060-Membrane Glycoproteins,
pubmed-meshheading:20933060-Molecular Chaperones,
pubmed-meshheading:20933060-Neuroblastoma,
pubmed-meshheading:20933060-Neuronal Ceroid-Lipofuscinoses,
pubmed-meshheading:20933060-Nicardipine,
pubmed-meshheading:20933060-Nifedipine,
pubmed-meshheading:20933060-Nimodipine,
pubmed-meshheading:20933060-Potassium Chloride,
pubmed-meshheading:20933060-RNA, Small Interfering,
pubmed-meshheading:20933060-RNA Interference
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pubmed:year |
2011
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pubmed:articleTitle |
Screening for calcium channel modulators in CLN3 siRNA knock down SH-SY5Y neuroblastoma cells reveals a significant decrease of intracellular calcium levels by selected L-type calcium channel blockers.
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pubmed:affiliation |
Department of Pathology and Laboratory Medicine, Division of Metabolic Disease, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA. anhaackk@email.chop.edu
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