Abstract:
:Adult GM2 gangliosidosis is a rare autosomal recessive disease with widely varying neurological and psychiatric manifestations. It is caused by marked deficiency, but not total absence, of beta-hexosaminidase (Hex) A, due to a single base change in the alpha-subunit gene of Hex, resulting in a substitution of Ser for Gly at position 269 in the alpha-subunit of the enzyme. The same mutation was identified in all investigated patients, most of whom are Ashkenazi Jews. Among previously studied non-Jewish patients of unrelated families this mutation appears either homozygously or in compound heterozygosity with an unidentified alpha-subunit mutation, whereas all Ashkenazi patients are compound heterozygotes. In all but one of them the other mutation is one of the Ashkenazi infantile Tay-Sachs alleles, while in one 76-year-old woman with very mild neurological symptoms, it is an unidentified alpha-subunit mutation. At present, the little correlation that seems to exist between these different genotypes and the severity of the disease poses a serious dilemma for genetic counselors.
journal_name
Dev Neuroscijournal_title
Developmental neuroscienceauthors
Navon Rdoi
10.1159/000112200subject
Has Abstractpub_date
1991-01-01 00:00:00pages
295-8issue
4-5eissn
0378-5866issn
1421-9859journal_volume
13pub_type
杂志文章abstract::In this study we have examined the susceptibility of the mitochondrial respiratory chain of astrocytes and astrocytes depleted of glutathione to peroxynitrite exposure. Astrocytes, as reported previously by us, appeared resistant to the actions of peroxynitrite. In contrast, depletion (-94%) of astrocytic glutathione ...
journal_title:Developmental neuroscience
pub_type: 杂志文章
doi:10.1159/000111432
更新日期:1996-01-01 00:00:00
abstract::We have shown that the developmentally regulated appearance of the two myelin-associated glycoprotein (MAG) polypeptides in normal mouse brain myelin does not reflect the developmental pattern of differential splicing of primary gene transcripts as determined earlier by RNase protection assays. Contrary to expectation...
journal_title:Developmental neuroscience
pub_type: 杂志文章
doi:10.1159/000111857
更新日期:1990-01-01 00:00:00
abstract::Neurotransmitters play important roles in neurogenesis; in particular, acetylcholine and serotonin may regulate neurite elongation. Acetylcholine may also activate transcription factors such as early growth response protein 1 (EGR-1), which plays a role in neurite extension. N18TG2 neuroblastoma cells (which do not pr...
journal_title:Developmental neuroscience
pub_type: 杂志文章
doi:10.1159/000354423
更新日期:2013-01-01 00:00:00
abstract::Chick embryo retina neurons in culture extend neurites and form synapses. Seven different culture substrates were compared to determine which culture surface would produce the best neuronal survival and neurite extension. The order of survival of retina neurons during 7 days of culture is salt-precipitated collagen gr...
journal_title:Developmental neuroscience
pub_type: 杂志文章
doi:10.1159/000112705
更新日期:1982-01-01 00:00:00
abstract::Central nervous system (CNS) stem cells require epidermal growth factor (EGF) to survive and express glial-specific proteins (GSPs) under its influence. EGF and its receptor (EGF-R) therefore are involved in gliogenesis. We hypothesize that EGF selectively modulates GSP expression in pluripotential CNS cells and this ...
journal_title:Developmental neuroscience
pub_type: 杂志文章
doi:10.1159/000048699
更新日期:2001-01-01 00:00:00
abstract::Proper eye formation depends on specific interactions between neural and ectodermal tissues coupled with temporally distinct gene expression and a regulated sequence of signaling events. The homeobox gene Pax6 is vitally important to the entire process of eye development in both vertebrates and invertebrates. Pax6 exp...
journal_title:Developmental neuroscience
pub_type: 杂志文章
doi:10.1159/000082273
更新日期:2004-01-01 00:00:00
abstract::Prenatal fever could result in brain function impairments in the offspring. The present study investigated the effect of interleukin-6 (IL-6)-induced maternal fever on the offspring and the involvement of connexin 36 in this process. Pregnant C57BL/6J mice were injected with IL-6 on gestational day 15. The levels of i...
journal_title:Developmental neuroscience
pub_type: 杂志文章
doi:10.1159/000499735
更新日期:2019-01-01 00:00:00
abstract::Traumatic brain injury (TBI) is predominantly a clinical problem of young persons, resulting in chronic cognitive and behavioral deficits. Specifically, the physiological response to a diffuse biomechanical injury in a maturing brain can clearly alter normal neuroplasticity. To properly evaluate and investigate develo...
journal_title:Developmental neuroscience
pub_type: 杂志文章,评审
doi:10.1159/000094163
更新日期:2006-01-01 00:00:00
abstract::Early developmental treatment of rats with 3,4-methylenedioxymethamphetamine (MDMA) was previously found to cause an abnormal pattern of forebrain serotonergic axon density in adulthood consisting of a cortical hypoinnervation and a striatal hyperinnervation. The present study tested the hypothesis that this reorganiz...
journal_title:Developmental neuroscience
pub_type: 杂志文章
doi:10.1159/000207497
更新日期:2009-01-01 00:00:00
abstract::Pediatric traumatic brain injury is a significant problem that affects many children each year. Progress is being made in developing neuroprotective strategies to combat these injuries. However, investigators are a long way from therapies to fully preserve injured neurons and glia. To restore neurological function, re...
journal_title:Developmental neuroscience
pub_type: 杂志文章
doi:10.1159/000367784
更新日期:2015-01-01 00:00:00
abstract::Neurite outgrowth is dependent on the presence in neurites of assembled microtubules which consist of polymerized tubulin to which microtubule-associated proteins (MAPs) are bound. This study adds to previous evidence of the similarity between the high molecular weight MAPs, MAP1X, MAP1B and MAP5, and explains the dif...
journal_title:Developmental neuroscience
pub_type: 杂志文章
doi:10.1159/000111318
更新日期:1993-01-01 00:00:00
abstract::Cortical dysplasia (CD) is now recognized as one of the major causes of pediatric focal neocortical epilepsy, and surgical procedures have been considered early in life. However, the mechanisms involved in seizure generation and intractability in these patients are still unknown. We analyzed with immunocytochemistry f...
journal_title:Developmental neuroscience
pub_type: 杂志文章
doi:10.1159/000017406
更新日期:1999-11-01 00:00:00
abstract::Rats were exposed to mild hyperoxia and hypoxia by the administration of oxygen/air and nitrogen/air mixtures through plastic tubing held close to their snouts for periods of 3 min. Changes in tissue oxygen were monitored at an implanted carbon paste electrode; local cerebral blood flow (rCBF) at an implanted platinum...
journal_title:Developmental neuroscience
pub_type: 杂志文章
doi:10.1159/000017298
更新日期:1998-01-01 00:00:00
abstract::Quaking is a neurological mutation leading to pleiotropic phenotypic expression, the most prominent being disturbed myelin formation in the central nervous system (CNS) with minor abnormalities in the peripheral nervous system. Previous immunochemical measurements of glial fibrillary acidic protein (GFAP) revealed a m...
journal_title:Developmental neuroscience
pub_type: 杂志文章
doi:10.1159/000111682
更新日期:1992-01-01 00:00:00
abstract::Previous studies have demonstrated that exposure to ethanol during development delays the rate at which axons in certain central nervous system tracts acquire myelin. This delay appears to be related to an alteration in oligodendrocyte function and not to an aberrancy in axon size or number. The present study was desi...
journal_title:Developmental neuroscience
pub_type: 杂志文章
doi:10.1159/000112154
更新日期:1991-01-01 00:00:00
abstract::Preterm birth is an important cause of perinatal brain injury (PBI). Neurological injury in extremely preterm infants often begins in utero with chorioamnionitis (CHORIO) or inflammation/infection of the placenta and concomitant placental insufficiency. Studies in humans have shown dysregulated inflammatory signaling ...
journal_title:Developmental neuroscience
pub_type: 杂志文章
doi:10.1159/000497273
更新日期:2019-03-28 00:00:00
abstract::NeuroD is a basic helix-loop-helix (bHLH) transcription factor cloned from a two hybrid screen designed to search for new bHLH proteins. In our previous studies, we showed that NeuroD could convert Xenopus ectoderm into fully differentiated neurons and that it could prematurely differentiate neural precursor cells in ...
journal_title:Developmental neuroscience
pub_type: 杂志文章,评审
doi:10.1159/000111182
更新日期:1997-01-01 00:00:00
abstract::Perinatal asphyxia is a leading cause of brain injury in neonates, occurring in 2-4 per 1,000 live births, and there are limited treatment options. Because of their similarity to humans, nonhuman primates are ideal for performing preclinical tests of safety and efficacy for neurotherapeutic interventions. We previousl...
journal_title:Developmental neuroscience
pub_type: 杂志文章
doi:10.1159/000327246
更新日期:2011-01-01 00:00:00
abstract::The proximodistal axonal transport of choline acetyltransferase (ChAc) has been studied in the chick sciatic nerve in the absence of any experimental manipulation. The phenomenon utilized by us is a physiological transient fall in the activity of ChAc. This fall occurs in most areas of the chick central nervous system...
journal_title:Developmental neuroscience
pub_type: 杂志文章
doi:10.1159/000112484
更新日期:1979-01-01 00:00:00
abstract::We have previously shown that a single intracranial injection of apotransferrin (aTf) in neonatal rats produces an accelerated mylinogenesis and increases the expression of certain myelin proteins such as myelin basic protein (MBP). In the present work, we studied the effects of aTf upon oligodendrocyte progenitor cel...
journal_title:Developmental neuroscience
pub_type: 杂志文章
doi:10.1159/000064945
更新日期:2002-01-01 00:00:00
abstract::HIV-1 is able to penetrate the developing human central nervous system and induce damage. Clinical and neuropathological observations demonstrate that (a) the virus is transmitted during the late phase of pregnancy or at the time of delivery; (b) the main infected cells within the brain are macrophages, and (c) the me...
journal_title:Developmental neuroscience
pub_type: 杂志文章,评审
doi:10.1159/000112100
更新日期:1994-01-01 00:00:00
abstract::Our previous studies of H218, a sphingosine 1-phosphate (S1P) receptor and a member of the G-protein-coupled receptor superfamily, suggest that it may participate in mammalian nervous system development. Thus, brain levels of H218 mRNA are higher during early neurogenesis than postnatally. In addition, embryonic H218 ...
journal_title:Developmental neuroscience
pub_type: 杂志文章
doi:10.1159/000017452
更新日期:2000-01-01 00:00:00
abstract::Systemic creatine (Cr) supplementation increases brain phosphocreatine (PCr) and prevents hypoxic seizures in 15-day-old rabbits. Between 5 and 30 days of age during normal development, rabbit gray matter mitochondrial creatine kinase (Mi-CK) increases 400% while cytosolic CK (BB-CK) increases 60%. In white matter, bo...
journal_title:Developmental neuroscience
pub_type: 杂志文章
doi:10.1159/000017473
更新日期:2000-09-01 00:00:00
abstract::The development of the chick bulbar cardiac ganglia has been studied ultrastructurally from the 3rd day of incubation to hatching. For descriptive purposes, their development has been divided into three phases. The first phase includes migration and aggregation of undifferentiated neuroblasts, stages 21-26 (day 3.5-5)...
journal_title:Developmental neuroscience
pub_type: 杂志文章
doi:10.1159/000112390
更新日期:1980-01-01 00:00:00
abstract::Neurotoxicological studies have indicated that L-glutamate exhibits more pronounced effects on the preoptic area (POA) neurons of male rats than on those of females in the neonatal period. However, no information has previously been available as to whether or not such sexual dimorphism also exists for the effects of g...
journal_title:Developmental neuroscience
pub_type: 杂志文章
doi:10.1159/000048726
更新日期:2001-01-01 00:00:00
abstract::Using Western blot and immunocytochemistry to detect protein, and in situ hybridization and Northern blot to detect RNA, we studied the expression of Na,K-ATPase subunit isoforms in cultured astrocytes and oligodendrocytes in vitro, and in glial cells in the brain. We found that astrocytes in culture express alpha 1 a...
journal_title:Developmental neuroscience
pub_type: 杂志文章
doi:10.1159/000111422
更新日期:1996-01-01 00:00:00
abstract::While extracellular signals play a major role in brain neurogenesis, little is known about the cell cycle machinery underlying mitogen stimulation of precursor proliferation. Current models suggest that the D cyclins function as primary sensors of extracellular mitogens. Here we define the mechanisms by which basic fi...
journal_title:Developmental neuroscience
pub_type: 杂志文章
doi:10.1159/000082137
更新日期:2004-03-01 00:00:00
abstract::The current work tested the hypothesis that the zinc status of a cell influences its sensitivity to iron-induced oxidative stress. Human IMR-32 neuroblastoma cells were cultured for 24 h in nonchelated control media (5 microM zinc; 4.5 microM iron), or in media that was treated with DTPA to reduce its zinc content (ch...
journal_title:Developmental neuroscience
pub_type: 杂志文章
doi:10.1159/000065691
更新日期:2002-01-01 00:00:00
abstract::The postnatal development of the complexes of the electron transport chain in mitochondria isolated from rat brain synaptosomes was investigated. Synaptosomal brain mitochondria were isolated from rats aged 10-60 days, and the activities of mitochondrial complex I, complex II-III, complex IV and complex V were measure...
journal_title:Developmental neuroscience
pub_type: 杂志文章
doi:10.1159/000111289
更新日期:1995-01-01 00:00:00
abstract::Early research in the Vannucci laboratory prior to 1981 focused largely on brain energy metabolism in the developing rat. At that time, there was no experimental model to study the effects of perinatal hypoxia-ischemia in the rodent, despite the tremendous need to investigate the pathophysiology of perinatal asphyxial...
journal_title:Developmental neuroscience
pub_type: 杂志文章,评审
doi:10.1159/000085978
更新日期:2005-03-01 00:00:00