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Proxy-Reported Symptoms and Quality of Life Survey in Zellweger Spectrum Disorders

2018-02-26 20:24:12 | BioPortfolio

Published on BioPortfolio: 2018-02-26T20:24:12-0500

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Medical and Biotech [MESH] Definitions

An autosomal recessive disorder due to defects in PEROXISOME biogenesis which involves more than 13 genes encoding peroxin proteins of the peroxisomal membrane and matrix. Zellweger syndrome is typically seen in the neonatal period with features such as dysmorphic skull; MUSCLE HYPOTONIA; SENSORINEURAL HEARING LOSS; visual compromise; SEIZURES; progressive degeneration of the KIDNEYS and the LIVER. Zellweger-like syndrome refers to phenotypes resembling the neonatal Zellweger syndrome but seen in children or adults with apparently intact peroxisome biogenesis.

A broad-spectrum spectrum antineoplastic antibiotic isolated from Streptomyces refuineus var. thermotolerans. It has low toxicity, some activity against Trichomonas and Endamoeba, and inhibits RNA and DNA synthesis. It binds irreversibly to DNA.

A multi-pass transmembrane protein that contains a C-terminal RING finger domain. It localizes to the PEROXISOME membrane and is essential for peroxisome biogenesis. Mutations in the PEX2 gene are associated with ZELLWEGER SYNDROME and INFANTILE REFSUM DISEASE.

A technique used to measure the rate of physiological activity plotted against wavelength of light. An action spectrum depicts the most effective wavelength of light (also known as spectral sensitivity) that is required for each specific process.

A cytoplasmic receptor and peroxin that contains a series of TETRACOTIPEPTIDE REPEATS and binds to PEROXISOME TARGETING SIGNAL 1 (SKL-type). It is essential for protein import into PEROXISOMES; mutations in the PEX5 gene are associated with PEROXISOMAL DISORDERS such as ZELLWEGER SYNDROME.

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