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pubmed-article:20933060pubmed:abstractTextDefects 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.lld:pubmed
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pubmed-article:20933060pubmed:articleTitleScreening 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.lld:pubmed
pubmed-article:20933060pubmed:affiliationDepartment of Pathology and Laboratory Medicine, Division of Metabolic Disease, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA. anhaackk@email.chop.edulld:pubmed
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