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Literature DB >> 6273766

Giant axonal neuropathy: intermediate filament aggregates in cultured skin fibroblasts.

Abstract

Giant axonal neuropathy is characterized by large masses of filaments in neurons and other cells. Coomassie blue staining of the detergent-resistant cytoskeleton of cultured fibroblasts from three patients revealed cytoplasmic masses with the characteristics of aggregates of intermediate (8- to 10-nm) filaments. These fibroblast abnormalities provide definitive evidence for a genetic etiology of this disease and may be useful for prenatal diagnosis and for investigations of pathogenesis.

Entities: Chemical Disease Species

Mesh：

Year: 1981 PMID： 6273766 DOI： 10.1212/wnl.31.11.1470

Source DB: PubMed Journal: Neurology ISSN： 0028-3878 Impact factor: 9.910

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Cited

15 in total

1. Onset of human cytomegalovirus replication in fibroblasts requires the presence of an intact vimentin cytoskeleton.

Authors: Matthew S Miller; Laura Hertel
Journal: J Virol Date: 2009-04-29 Impact factor: 5.103

2. Giant axonal neuropathy: normal protein composition of neurofilaments.

Authors: V Ionasescu; C Searby; P Rubenstein; A Sandra; P Cancilla; J Robillard
Journal: J Neurol Neurosurg Psychiatry Date: 1983-06 Impact factor: 10.154

3. Abnormal organization of keratin intermediate filaments in cultured keratinocytes of epidermolysis bullosa simplex.

Authors: Y Kitajima; S Inoue; H Yaoita
Journal: Arch Dermatol Res Date: 1989 Impact factor: 3.017

4. Giant axonal neuropathy: observations on a further patient.

Authors: M Donaghy; E M Brett; I E Ormerod; R H King; P K Thomas
Journal: J Neurol Neurosurg Psychiatry Date: 1988-07 Impact factor: 10.154

5. Giant axonal neuropathy-associated gigaxonin mutations impair intermediate filament protein degradation.

Authors: Saleemulla Mahammad; S N Prasanna Murthy; Alessandro Didonna; Boris Grin; Eitan Israeli; Rodolphe Perrot; Pascale Bomont; Jean-Pierre Julien; Edward Kuczmarski; Puneet Opal; Robert D Goldman
Journal: J Clin Invest Date: 2013-04-15 Impact factor: 14.808

6. Modest loss of peripheral axons, muscle atrophy and formation of brain inclusions in mice with targeted deletion of gigaxonin exon 1.

Authors: Florence Dequen; Pascale Bomont; Geneviève Gowing; Don W Cleveland; Jean-Pierre Julien
Journal: J Neurochem Date: 2008-07-31 Impact factor: 5.372

Giant axonal neuropathy: intermediate filament aggregates in cultured skin fibroblasts.

1. Onset of human cytomegalovirus replication in fibroblasts requires the presence of an intact vimentin cytoskeleton.

2. Giant axonal neuropathy: normal protein composition of neurofilaments.

3. Abnormal organization of keratin intermediate filaments in cultured keratinocytes of epidermolysis bullosa simplex.

4. Giant axonal neuropathy: observations on a further patient.

5. Giant axonal neuropathy-associated gigaxonin mutations impair intermediate filament protein degradation.

6. Modest loss of peripheral axons, muscle atrophy and formation of brain inclusions in mice with targeted deletion of gigaxonin exon 1.

7. Gigaxonin controls vimentin organization through a tubulin chaperone-independent pathway.

8. Sensory-motor deficits and neurofilament disorganization in gigaxonin-null mice.

9. Withaferin a alters intermediate filament organization, cell shape and behavior.

10. Giant axonal neuropathy: a conditional mutation affecting cytoskeletal organization.