Alzheimer disease: Presenilin springs a leak
Article Abstract:
A study provides evidence that presenilins, in addition to their cleavage function, also form ion channels responsible for a normal trickle of calcium known as the 'calcium leak current' out of a storage depot in the endoplasmic reticulum and into the cytoplasm. The first pathogenic mutations discovered to cause amyloid-[beta] pathology were found not in presenilins but in the amyloid precursor protein so when formulating a global definition for Alzheimer disease, one must keep in mind that primary endoplasmic reticulum calcium leak failure is clearly not necessary to cause Alzheimer disease.
Publication Name: Nature Medicine
Subject: Health
ISSN: 1078-8956
Year: 2006
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Lysosomal ceroid depletion by drugs: therapeutic implications for a hereditary neurodegenerative disease of childhood
Article Abstract:
Research presented concerns the physiological and genetic aspects of neuronal ceroid lipofuscinoses (NCLs), common neurodegenerative diseases found in childhood. Two drugs, phosphocyteamine and N-acetylcysteine are nucleophilic drugs that are tested to see if they can be used to treat the infantile form of NCL, which is caused by a deficiency in lysosomal palmitoyl-protein thioesterase.
Publication Name: Nature Medicine
Subject: Health
ISSN: 1078-8956
Year: 2001
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Therapeutic opportunities in polyglutamine disease
Article Abstract:
Research presented concerns the cellular pathology of polyglutamine diseases or neurodegenerative disorders that result from protein expression with expanded polyglutamine tracts. Causes and drug therapies for this genetic disease are discussed, and topics include protein folding, protein-protein interaction, transcription factors, and apoptosis.
Publication Name: Nature Medicine
Subject: Health
ISSN: 1078-8956
Year: 2001
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