Abstract:
:Immunofluorescence and immunogold labelling were used to localise the 43-kDa dystrophin-associated glycoprotein (43DAG) of the dystrophin-glycoprotein complex in control and Duchenne muscular dystrophy (DMD) biopsies. In control muscle 43DAG was localised by immunofluorescence to the periphery of the fibre and, by immunogold, was further delimited to the plasma membrane. The labelling was indistinguishable from that previously reported for the dystrophin C terminus. Moreover, the distance separating adjacent 43DAG labelling sites (120 nm mode) closely matched that separating dystrophin C-terminal sites. This is strong evidence supporting Ervasti & Campbell's model in which the DAG complex is bound close to the C terminus of dystrophin and in which the DAG complexes are separated by approximately the length of the dystrophin rod. In DMD, where there is a 80-90% reduction in the glycoprotein complex, a faint or locally patchy distribution of 43DAG was seen by immunofluorescence. Measurement of nearest-neighbour distances after immunogold labelling showed that in DMD the 43DAG was more dispersed, which is further evidence that dystrophin is normally involved in anchoring the DAGs in the plasma membrane. This is significant because the potential success of dystrophin gene therapy could depend not only on restoring dystrophin but also on restoring the lost DAGs.
journal_name
Acta Neuropatholjournal_title
Acta neuropathologicaauthors
Cullen MJ,Walsh J,Nicholson LVdoi
10.1007/BF00313603subject
Has Abstractpub_date
1994-01-01 00:00:00pages
349-54issue
4eissn
0001-6322issn
1432-0533journal_volume
87pub_type
杂志文章abstract::The mechanism of inflammatory demyelination in canine distemper encephalitis (CDE) is uncertain but macrophages are thought to play an important effector role in this lesion. Serum and cerebrospinal fluid (CSF), containing anti-canine distemper virus and anti-myelin antibodies from dogs with CDE were tested for their ...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00688176
更新日期:1989-01-01 00:00:00
abstract::Psammoma bodies at the perivascular area in five cases of meningioma were examined with the electron microscope. In general, meningocytic cells invest the outer aspect of blood vessels, which are constituted by multilayered basal laminae, collagen fibers, microfibrils, and pericytes. Remnants of degenerated cells are ...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00688693
更新日期:1985-01-01 00:00:00
abstract::Abnormal TDP-43 aggregation is a prominent feature in the neuropathology of amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration. Mutations in TARDBP, the gene encoding TDP-43, cause some cases of ALS. The normal function of TDP-43 remains incompletely understood. To better understand TDP-43 biolo...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s00401-010-0659-0
更新日期:2010-04-01 00:00:00
abstract::Synemin is a member of the intermediate protein superfamily. Previous studies in avian and rodent skeletal and cardiac muscles have demonstrated that synemin localises at the Z-band, where it associates with desmin and alpha-actinin. In the present study, the distribution of synemin was examined using immunohistochemi...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s00401-003-0695-0
更新日期:2003-07-01 00:00:00
abstract::A total of 66 skin biopsies from persons with Alzheimer's disease (AD) or Down's syndrome (DS) and from persons without AD were used in this study. The age range was from 7 to 89 years. Positive immunoreactivity of skin biopsies to monoclonal antibody 4G8, which is reactive to amino acid residue 17-24 of synthetic amy...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00293394
更新日期:1994-01-01 00:00:00
abstract::Investigations of the existence and distribution of muscle spindles and tendon organs in the human voluntary anal sphincter muscle in 53 cases of autopsy material from both female and male persons (age: 27th week of gestation to 81 years) brought forward the following results: Similar to animals, muscle spindles are f...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00691860
更新日期:1984-01-01 00:00:00
abstract::In adult mice, administration of the anticonvulsive drug phenytoin caused focal swellings along the Purkinje cell axon correlated with ataxia and incoordination of movements. In our model, we used murine cerebellar slice cultures to study the influence of phenytoin on postnatal Purkinje cell axon differentiation. Almo...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s004010050844
更新日期:1998-06-01 00:00:00
abstract::An autopsy case of unclassifiable presenil dementia is reported. The outstanding pathological findings were as follows; 1. presence of senile plaques, neurofibrillary changes, Pick bodies, Hirano bodies, granulovacuolar degeneration of neurons, etc. 2. numerous Lewy bodies in the brain stem and diencephalon, 3. peculi...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00685366
更新日期:1976-11-15 00:00:00
abstract::Primary cortical and hippocampal neuronal cultures submitted to brief histotoxic hypoxia suffer delayed neuronal death after 24 h [Uto et al. (1995) J Neurochem 64: 2185-2192]. In this study the ultrastructural changes were monitored during the first 6 h following 5-min histotoxic hypoxia induced by exposure to 100 mi...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s004010050559
更新日期:1996-12-01 00:00:00
abstract::Pelizaeus-Merzbacher disease (PMD) is an untreatable and fatal leukodystrophy. In a model of PMD with perturbed blood-brain barrier integrity, cholesterol supplementation promotes myelin membrane growth. Here, we show that in contrast to the mouse model, dietary cholesterol in two PMD patients did not lead to a major ...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s00401-019-01985-2
更新日期:2019-07-01 00:00:00
abstract::Microglia are long-living resident immune cells of the brain, which secure a stable chemical and physical microenvironment necessary for the proper functioning of the central nervous system (CNS). These highly dynamic cells continuously scan their environment for pathogens and possess the ability to react to damage-in...
journal_title:Acta neuropathologica
pub_type: 杂志文章,评审
doi:10.1007/s00401-015-1524-y
更新日期:2016-03-01 00:00:00
abstract::Previous investigators have suggested that proteolysis by calpain, a Ca2+-dependent protease, causes muscle fiber degradation in Duchenne and Becker muscular dystrophies (DMD/BMD). Recent evidence indicates that the nonlysosomal ATP-ubiquitin-dependent proteolytic complex (proteasomes) participates in muscle wasting d...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s004010000229
更新日期:2000-12-01 00:00:00
abstract::Marinesco-Sjögren syndrome (MSS) features cerebellar ataxia, mental retardation, cataracts, and progressive vacuolar myopathy with peculiar myonuclear alterations. Most MSS patients carry homozygous or compound heterozygous SIL1 mutations. SIL1 is a nucleotide exchange factor for the endoplasmic reticulum resident cha...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s00401-013-1224-4
更新日期:2014-05-01 00:00:00
abstract::Since we reported a case of acute relaxant-steroid myopathy (ARSM) in 1994, we continued histological studies and compared the findings with those in a case of corticosteroid myopathy (CM). It was revealed that (1) dystrophin, spectrin, beta dystroglycan, and sarcoglycans on the cell surface were decreased, (2) regula...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s004010051022
更新日期:1999-05-01 00:00:00
abstract::X-linked adrenoleukodystrophy (X-ALD) is a rare neurometabolic disease characterized by the accumulation of very long chain fatty acids (VLCFAs) due to a loss of function of the peroxisomal transporter ABCD1. Here, using in vivo and in vitro models, we demonstrate that autophagic flux was impaired due to elevated mamm...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s00401-014-1378-8
更新日期:2015-03-01 00:00:00
abstract::We have investigated relationships between hippocampal/temporal lobe neuropathology and psychosis in subjects with temporal lobe epilepsy, paying particular attention to possible differences in density of hippocampal neurons immunoreactive for calcium-binding proteins. There was a trend for a greater prevalence of lef...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s004010051159
更新日期:2000-05-01 00:00:00
abstract::The pathogenesis of HIV-associated cognitive changes is poorly understood. Cytokines such as tumor necrosis factor-alpha (TNF-alpha) have been postulated to contribute to the mechanism of the neurological complications of HIV infection. One of the effects of TNF-alpha is to induce astrocyte proliferation in vitro. The...
journal_title:Acta neuropathologica
pub_type: 临床试验,杂志文章
doi:10.1007/s004010050646
更新日期:1997-05-01 00:00:00
abstract::Gliomas induced in the rat by transplacental administration of ethylnitrosourea (ENU) are intensely immunoreactive for vimentin and scarcely for glial fibrillary acidic protein (GFAP). Since tumoral transformation takes place during the late fetal and early postnatal period, the sequential expression of the two glial ...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00227665
更新日期:1992-01-01 00:00:00
abstract::The blood-brain barrier (BBB) was studied in rats with electrolyte-induced demyelination (EID), an experimental model for central pontine myelinolysis. Intravenously injected peroxidase was extravasated at 3 h post hypertonic saline injection (PHS) into regions frequently involved in EID. Increased pinocytotic activit...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00310371
更新日期:1994-01-01 00:00:00
abstract::Intermitochondrial septate structures were found in the dystrophic axons of two cases of infantile neuroaxonal dystrophy. Septate structures were previously seen in some tumors (glioblastomas and Schwannomas) and several organs of vertebrates and invertebrates, but never in human central nervous system (CNS). The stru...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00688007
更新日期:1980-01-01 00:00:00
abstract::Cyclooxygenases (COX, prostaglandin endoperoxide synthases, PGG/H synthases) are potent mediators of inflammation. While COX-1 is constitutively expressed in a wide range of tissues, COX-2 is cytokine inducible. Although COX-1 expression is observed in normal tissue, enhanced COX-2 expression has been attributed a key...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s004010051075
更新日期:1999-09-01 00:00:00
abstract::Central pontine myelinolysis (CPM) is an uncommon complication in sick patients with severe underlying disorders such as chronic alcoholism, malignancy, malnutrition and hyponatraemia. We report two patients with advanced HIV infection who developed CPM. In one case the diagnosis was not suspected in life, in the othe...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s004010050931
更新日期:1998-11-01 00:00:00
abstract::Surgical specimens of 4 intracranial saccular aneurysms were studied by scanning electron microscopy. The internal surface of the aneurysms showed crater-like defects and cytoplasmic bridges. In some areas the endothelium was preserved, but its longitudinal convolutions were higher and thicker than those found in unch...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00691478
更新日期:1978-11-15 00:00:00
abstract::Cerebral cortical lesions of tuberous sclerosis (TSC) and focal cortical dysplasia (FCD) show disturbances in laminar architecture and cellular differentiation. We immunohistochemically studied the expression of doublecortin, a fetal neuronal protein that regulates neuronal migration, in the surgical specimens of five...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s00401-002-0575-z
更新日期:2002-10-01 00:00:00
abstract::Equine grass sickness (EGS) is an acquired disease of unknown aetiology affecting horses kept at grass. The disease is characterised by postganglionic sympathetic and parasympathetic neuronal pathology and is categorised as a dysautonomia. This study undertook a systematic examination of brain stem cranial nerve nucle...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s004010000289
更新日期:2001-08-01 00:00:00
abstract::We have found large eosinophilic bodies in the pericapillary regions of the gray and white matter in the human spinal cord. These are entirely different from the previously reported pericapillary inclusion bodies (PIB). We have designated them pericapillary rosettes (PR), since they consist of clusters of round or ovo...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00299408
更新日期:1992-01-01 00:00:00
abstract::Frontotemporal lobar degeneration with TAR DNA-binding protein 43 inclusions (FTLD-TDP) is the most common pathology associated with frontotemporal dementia (FTD). Repeat expansions in chromosome 9 open reading frame 72 (C9ORF72) and mutations in progranulin (GRN) are the major known genetic causes of FTLD-TDP; howeve...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s00401-015-1436-x
更新日期:2015-07-01 00:00:00
abstract::Alpha-synuclein is known to play an important role in several neurodegenerative diseases. Moreover, it is expressed in central nervous system neuronal tumors, and another member of the synuclein family, gamma-synuclein, is overexpressed in breast and ovarian carcinomas. However, the expression of alpha-synuclein has n...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s004010100443
更新日期:2002-02-01 00:00:00
abstract::Mutations in the fused in sarcoma (FUS) gene are linked to a form of familial amyotrophic lateral sclerosis (ALS), ALS6. The FUS protein is a major component of the ubiquitin-positive neuronal cytoplasmic inclusions in both ALS6 and some rare forms of frontotemporal lobar degeneration (FTLD). The latter are now collec...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s00401-012-0984-6
更新日期:2012-09-01 00:00:00
abstract::Striped skunks were inoculated intracerebrally with the scrapie agent (suspension of brain from a naturally infected Suffolk sheep) or intramuscularly with street rabies virus (suspension of salivary glands from naturally infected skunks). Those given the scrapie agent developed clinical signs of weakness, posterior a...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00687775
更新日期:1988-01-01 00:00:00