Structural gene for beta-nerve growth factor not defective in familial dysautonomia.

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Structural gene for beta-nerve growth factor not defective in familial dysautonomia.

The developmental loss of neurons in sympathetic, sensory, and some parasympathetic ganglia in familial dysautonomia suggests an inherited defect in the action of beta-nerve growth factor (beta-NGF). The role of this growth factor in dysautonomia has been difficult to resolve as there is no known source of authentic human beta-NGF. The availability of a cloned DNA probe for the human beta-NGF g...

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Familial dysautonomia.

Familial dysautonomia is a rare syndrome of childhood affecting the nervous system. As the name suggests, dysfunction of the autonomic system is a prominent feature. It was first recognized as a separate entity by Riley, Day, Greeley and Langford (1949), the first large series being described by Riley (1952). So far, about 70 patients have been recorded. Though the fully developed syndrome is u...

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Structural modification of the NH2 terminus of nerve growth factor. Purification and characterization of beta-nerve growth factor endopeptidase.

Nerve growth factor (NGF) is partially modified at its NH2 terminus during purification from mouse submaxillary gland. The significance of the cleavage of a histidine/methionine bond to produce an octapeptide from the NH2 terminus of PNGF is not yet understood. This study is concerned with the purification and characterization of the endopeptidase responsible for the cleavage and with its physi...

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Familial Dysautonomia (FD)

Familial dysautonomia (FD) is an autosomal recessive congenital neuropathy which results from poor development and progressive degeneration of the nervous system. The mutation responsible for FD was found at the 5�ss of intron 20 of the IKBKAP gene, encoding the I?B kinase complex-associated protein (IKAP...

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Familial Dysautonomia (FD)

Familial dysautonomia (FD) is an autosomal recessive congenital neuropathy which results from poor development and progressive degeneration of the nervous system. The mutation responsible for FD was found at the 5�ss of intron 20 of the IKBKAP gene, encoding the I?B kinase complex-associated protein (IKAP...

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ژورنال

عنوان ژورنال: Proceedings of the National Academy of Sciences

سال: 1984

ISSN: 0027-8424,1091-6490

DOI: 10.1073/pnas.81.13.4213