ISOLATION OF A 17kMW COMPONENT OF ROSENTHAL FIBERS.

Goldman, J. E.

doi:10.1097/00005072-198705000-00065

Cited by 18 publications

(20 citation statements)

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“…The deposits are intimately associated with glial fibrils but are antigenically distinct [20,22], A protein of about 20 kd has been isolated from partially purified Rosenthal fibers and iden tified as an aB-crystallin. This protein is found in normal brain tissue but the point of interest is the abnormal accu mulation of this protein in Rosenthal fibers [22]. The met abolic defect is presumed to be genetic in origin [6,19,23], The positive family history substantiated by biopsy in our two cases supports this hypothesis.…”

Section: Discussionmentioning

confidence: 99%

Biopsy Diagnosis of Familial Alexander’s Disease

Duckett

Schwartzman²,

Osterholm³

et al. 1992

Pediatr Neurosurg

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A 26-year-old woman presented with headaches, incordination and a cerebellar mass (1982). The CT scan revealed dilated ventricles and a hypodense space-occupying lesion adjacent to the fourth ventricle. Neuronal loss, gliosis and masses of Rosenthal fibers were seen in biopsy. There was no evidence of neoplasm. A second biopsy 2 years later was similar to the original specimen. A diagnosis of Alexander’s disease was suggested. Later that year the patient’s 11-year-old brother manifested a clinical picture intially diagnosed as brainstem glioma, but whose biopsy was characteristic of Alexander’s disease. There has been a gradual deterioration of these siblings over the past 6 years (1986–1991). No evidence of neoplasm has appeared.

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Section: Discussionmentioning

confidence: 99%

Biopsy Diagnosis of Familial Alexander’s Disease

Duckett

Schwartzman²,

Osterholm³

et al. 1992

Pediatr Neurosurg

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“…In Alexander disease, Rosenthal fibers are found throughout the brain and spinal cord, accumulating particularly in astrocyte end-feet in the subpial and perivascular zones (Friede, 1989). They are composed of glial fibrillary acidic protein (GFAP), the major intermediate filament of astrocytes, as well as ubiquitin and the small heat-shock proteins HSP27 and αB-crystallin (Bettica and Johnson, 1990;Goldman and Corbin, 1988;Iwaki et al, 1989;Johnson and Bettica, 1989;Lowe et al, 1989;Tomokane et al, 1991). At the electronmicroscopic level, Rosenthal fibers are dense, osmiophilic structures that are closely associated with intermediate filaments (Herndon et al, 1970;Lach et al, 1991).…”

Section: Introductionmentioning

confidence: 99%

Alexander-disease mutation ofGFAPcauses filament disorganization and decreased solubility of GFAP

Hsiao

Tian

Long

et al. 2005

Journal of Cell Science

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“…Major molecular components of RFs include GFAP itself and the small heat shock proteins ␣B crystallin and hsp27. 2 Most individuals with AxD carry missense mutations in one allele of the coding region of the GFAP gene. 3,4 Our study focused on the most frequent and severe type of AxD mutation, R239C (RC) GFAP.…”

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confidence: 99%

Plectin Regulates the Organization of Glial Fibrillary Acidic Protein in Alexander Disease

Tian

Gregor

Wiche

et al. 2006

The American Journal of Pathology

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Alexander disease (AxD) is a rare but fatal neurological disorder caused by mutations in the astrocytespecific intermediate filament protein glial fibrillary acidic protein (GFAP). Histologically, AxD is characterized by cytoplasmic inclusion bodies called Rosenthal fibers (RFs), which contain GFAP, small heat shock proteins, and other undefined components. Here, we describe the expression of the cytoskeletal linker protein plectin in the AxD brain. RFs displayed positive immunostaining for plectin and GFAP, both of which were increased in the AxD brain. Co-localization, co-immunoprecipitation, and in vitro overlay analyses demonstrated direct interaction of plectin and GFAP. GFAP with the most common AxD mutation, R239C (RC GFAP), mainly formed abnormal aggregates in human primary astrocytes and murine plectin-deficient fibroblasts. Transient transfection of full-length plectin cDNA converted these aggregates to thin filaments, which exhibited diffuse cytoplasmic distribution. Compared to wild-type GFAP expression, RC GFAP expression lowered plectin levels in astrocytoma-derived stable transfectants and plectin-positive fibroblasts. A much higher proportion of total GFAP was found in the Triton X-insoluble fraction of plectin-deficient fibroblasts than in wild-type fibroblasts. Taken together, our results suggest that insufficient amounts of plectin, due to RC GFAP expression, promote GFAP aggregation and RF formation in AxD.

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ISOLATION OF A 17kMW COMPONENT OF ROSENTHAL FIBERS.

Cited by 18 publications

References 0 publications

Biopsy Diagnosis of Familial Alexander’s Disease

Biopsy Diagnosis of Familial Alexander’s Disease

Alexander-disease mutation ofGFAPcauses filament disorganization and decreased solubility of GFAP

Plectin Regulates the Organization of Glial Fibrillary Acidic Protein in Alexander Disease

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