Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease

[1]  A. Koeppen,et al.  Genetic localization of an autosomal dominant leukodystrophy mimicking chronic progressive multiple sclerosis to chromosome 5q31. , 2000, Human molecular genetics.

[2]  E. Wijsman,et al.  A missense mutation in the desmin rod domain is associated with autosomal dominant distal myopathy, and exerts a dominant negative effect on filament formation. , 1999, Human molecular genetics.

[3]  S. Naidu,et al.  The gene for leukoencephalopathy with vanishing white matter is located on chromosome 3q27. , 1999, American journal of human genetics.

[4]  A D Irvine,et al.  Human keratin diseases: the increasing spectrum of disease and subtlety of the phenotype–genotype correlation , 1999, The British journal of dermatology.

[5]  E. Mariman,et al.  Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy , 1999, Nature Genetics.

[6]  F. Muntoni,et al.  Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy , 1999, Nature Genetics.

[7]  J. Nagle,et al.  Missense mutations in desmin associated with familial cardiac and skeletal myopathy , 1998, Nature Genetics.

[8]  M. Hutton,et al.  Determination of the gene structure of human GFAP and absence of coding region mutations associated with frontotemporal dementia with parkinsonism linked to chromosome 17. , 1998, Genomics.

[9]  J. Goldman,et al.  Fatal encephalopathy with astrocyte inclusions in GFAP transgenic mice. , 1998, The American journal of pathology.

[10]  R. Pearce,et al.  Targeted deletion in astrocyte intermediate filament (Gfap) alters neuronal physiology. , 1996, Proceedings of the National Academy of Sciences of the United States of America.

[11]  W. Ball,et al.  Alexander disease: a case report and review of the literature. , 1996, Pediatric pathology & laboratory medicine : journal of the Society for Pediatric Pathology, affiliated with the International Paediatric Pathology Association.

[12]  J. Parisi,et al.  Hereditary adult-onset Alexander's disease with palatal myoclonus, spastic paraparesis, and cerebellar ataxia , 1995, Neurology.

[13]  C. Betsholtz,et al.  Mice lacking glial fibrillary acidic protein display astrocytes devoid of intermediate filaments but develop and reproduce normally. , 1995, The EMBO journal.

[14]  S. Itohara,et al.  Mice devoid of the glial fibrillary acidic protein develop normally and are susceptible to scrapie prions , 1995, Neuron.

[15]  A. Messing,et al.  GFAP promoter directs astrocyte-specific expression in transgenic mice , 1994, The Journal of neuroscience : the official journal of the Society for Neuroscience.

[16]  C. Marsden,et al.  A familial disorder associated with palatal myoclonus, other brainstem signs, tetraparesis, ataxia and Rosenthal fibre formation. , 1993, Journal of neurology, neurosurgery, and psychiatry.

[17]  Y. Sakaki,et al.  Accumulation of αB-crystallin in brains of patients with Alexander's disease is not due to an abnormality of the 5′-flanking and coding sequence of the genomic DNA , 1992, Neuroscience Letters.

[18]  M. Brenner,et al.  Multiple interacting sites regulate astrocyte-specific transcription of the human gene for glial fibrillary acidic protein. , 1991, The Journal of biological chemistry.

[19]  Elaine Fuchs,et al.  Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: Genetic and functional analyses , 1991, Cell.

[20]  M. Dohadwala,et al.  Characterization of human cDNA and genomic clones for glial fibrillary acidic protein. , 1990, Brain research. Molecular brain research.

[21]  A. Johnson,et al.  On-grid immunogold labeling of glial intermediate filaments in epoxy-embedded tissue. , 1989, The American journal of anatomy.

[22]  T. Iwaki,et al.  αB-crystallin is expressed in non-lenticular tissues and accumulates in Alexander's disease brain , 1989, Cell.

[23]  R. Herndon,et al.  LIGHT AND ELECTRON MICROSCOPIC OBSERVATIONS ON ROSENTHAL FIBERS IN ALEXANDER'S DISEASE AND IN MULTIPLE SCLEROSIS , 1970, Journal of neuropathology and experimental neurology.

[24]  R. Kucherlapati,et al.  Experimental autoimmune encephalomyelitis in mice lacking glial fibrillary acidic protein is characterized by a more severe clinical course and an infiltrative central nervous system lesion. , 1998, The American journal of pathology.

[25]  E. Fuchs,et al.  The cytoskeleton and disease: genetic disorders of intermediate filaments. , 1996, Annual review of genetics.

[26]  Klein Ea,et al.  Prominent white matter cavitation in an infant with Alexander's disease. , 1994 .

[27]  A. Anzil,et al.  Prominent white matter cavitation in an infant with Alexander's disease. , 1994, Clinical neuropathology.