NDLI: Detection of survival motor neuron protein in buccal cells through electrochemiluminescence-based assay.

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Detection of survival motor neuron protein in buccal cells through electrochemiluminescence-based assay.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Steinkellner, Hannes Etzler, Julia Gmeiner, Bernhard M. Laccone, Franco
Description	Country affiliation: Austria Author Affiliation: Steinkellner H ( 1 Institute of Medical Genetics, Medical University of Vienna , Vienna, Austria .)
Abstract	Spinal muscular atrophy (SMA) is a severe autosomal recessive disorder affecting one in every 10,000 live births. The disease is characterized by loss of alpha-motor neurons in the spinal cord that leads to progressive atrophy and weakness of limb and trunk muscles. This neuromuscular disorder results from deletions and/or mutations within the survival motor neuron 1 (SMN1) gene, leading to a pathologically decreased expression of functional full-length SMN protein. Here we report on the investigation to measure SMN protein levels through electrochemiluminescence immunoassay (ECLIA). This simple assay is a highly quantitative method able to measure SMN protein levels in human, mouse, and rat samples throughout a wide working range with low intra- and interassay error. The sensitivity for human SMN is 30 pg/mL and provides a new tool for the set up of high-throughput screening for basic research. Moreover, we describe a novel tool for a noninvasive assessment of SMN in buccal cells derived from healthy donors, SMA carriers, and SMA patients. The availability of a validated quantitative ECLIA should improve the investigation of novel compounds for the treatment of SMA.
File Format	HTM / HTML
ISSN	1540658X
Issue Number	3
Volume Number	13
e-ISSN	15578127
Journal	ASSAY and Drug Development Technologies
Language	English
Publisher	Mary Ann Liebert, Inc.
Publisher Date	2015-04-01
Publisher Place	United States
Access Restriction	Subscribed
Subject Keyword	Discipline Analytical Discipline Pharmacology Discipline Chemistry Techniques Electrochemical Techniques Methods Immunoassay Luminescence Mouth Mucosa Cytology Smn Complex Proteins Analysis Adult Animals Cell Line Child Female Hek293 Cells Healthy Volunteers Hep G2 Cells High-throughput Screening Assays Humans Luminescent Measurements Male Mice Middle Aged Rats Journal Article
Content Type	Text
Resource Type	Article
Subject	Drug Discovery Molecular Medicine

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