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Neurodegenerative diseases: a decade of discoveries paves the way for therapeutic breakouts

Article Abstract:

A wide variety of neurodegenerative diseases are characterized by the accumulation of intracellular or extracellular protein aggregates. The genetic identification of mutations in familial counterparts to the sporadic disorders, leading to development of in vitro and in vivo model systems, has provided insights into disease pathogenesis.

Author: Forman, Mark S., Trojanowsli, John Q., Lee, Virginia M. Y.
Publisher: Nature America, Inc.
Publication Name: Nature Medicine
Subject: Health
ISSN: 1078-8956
Year: 2004
United States, Neurodegenerative diseases

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Lamin mutations come of age

Article Abstract:

Hutchinson-Gilford progeria syndrome (HGPS) is the latest and most conspicuous entry into the expanding catalogue of 'laminopathies', diseases caused by mutations affecting nuclear lamina proteins. The effects of the disease and the disorders associated with mutations in LMNA are discussed.

Author: Hegele, Robert A.
Publisher: Nature America, Inc.
Publication Name: Nature Medicine
Subject: Health
ISSN: 1078-8956
Year: 2003
Progeria

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The envelope, please: nuclear lamins and disease

Article Abstract:

Three distinct diseases that have nothing in common clinically have been linked to the same gene mutation. The mutation occurs in the gene LMNA, which codes for nuclear lamins A and C. These proteins are part of the nuclear envelope.

Author: Hegele, Robert A.
Publisher: Nature America, Inc.
Publication Name: Nature Medicine
Subject: Health
ISSN: 1078-8956
Year: 2000
Health aspects, Genetic aspects, Nuclear membranes, Nuclear membrane

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Subjects list: Research, Gene mutations, Gene mutation
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