Abstract：
:Spinal muscular atrophy (SMA) is a common autosomal recessive neuromuscular disorder that is caused by loss of the survival motor neuron gene, SMN1. SMA treatment strategies have focused on production of the SMN protein from the almost identical gene, SMN2. Valproic acid (VPA) is a histone deacetylase inhibitor that can increase SMN levels in some SMA cells or SMA patients through activation of SMN2 transcription or splicing correction of SMN2 exon 7. It remains to be clarified what concentration of VPA is required and by what mechanisms the SMN production from SMN2 is elicited. We observed that in two fibroblast cell lines from Japanese SMA patients, more than 1mM of VPA increased SMN2 expression at both the transcript and protein levels. VPA increased not only full-length (FL) transcript level but also exon 7-excluding (Δ7) transcript level in the cell lines and did not change the ratio of FL/Δ7, suggesting that SMN2 transcription was mainly activated. We also found that VPA modulated splicing factor expression: VPA increased the expression of splicing factor 2/alternative splicing factor (SF2/ASF) and decreased the expression of heterogeneous nuclear ribonucleoprotein A1 (hnRNPA1). In conclusion, more than 1mM of VPA activated SMN2 transcription and modulated the expression of splicing factors in our SMA fibroblast cell lines.
journal_name
Brain Devjournal_title
Brain & developmentauthors
Harahap IS,Saito T,San LP,Sasaki N,Gunadi,Nurputra DK,Yusoff S,Yamamoto T,Morikawa S,Nishimura N,Lee MJ,Takeshima Y,Matsuo M,Nishio Hdoi
10.1016/j.braindev.2011.04.010subject
Has Abstractpub_date
2012-03-01 00:00:00pages
213-22issue
3eissn
0387-7604issn
1872-7131pii
S0387-7604(11)00099-4journal_volume
34pub_type
杂志文章abstract：:The pathological role of autoantibodies in development of CNS disorders is a new idea with growing interest among neuroscientists. The involvement of autoimmune response in the pathogenesis of autism spectrum disorders (ASD) has been suggested by the presence of multiple brain-specific autoantibodies in children with ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2013.04.015
更新日期：2014-04-01 00:00:00
abstract：:In the acute precollicular-postmammillary decerebrate cat, stimulation of the mesencephalic locomotor region (MLR) induces "controlled locomotion" on a moving treadmill. Stimulation of the dorsal area and of the ventral area of the pons at its midline elicited a long-lasting decrease and an increase in the tone of the...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(86)80062-6
更新日期：1986-01-01 00:00:00
abstract：:Clobazam was added to the previous antiepileptic drug therapy of 90 children suffering from drug resistant epilepsy. Ten patients became seizure free, although four of these later developed tolerance. Thirty-three patients experienced a decrease in seizure frequency, and 24 of these, too, developed tolerance. Forty-fo...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(12)80025-8
更新日期：1991-05-01 00:00:00
abstract：:We report on the clinical, neuropathological, and genetic findings of a Japanese case with myocerebrohepatopathy spectrum (MCHS) disorder due to polymerase gamma (POLG) mutations. A girl manifested poor sucking and failure to thrive since 4 months of age and had frequent vomiting and developmental regression at 5 mont...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2014.10.013
更新日期：2015-08-01 00:00:00
abstract：:Continuous and simultaneous registration of electroencephalogram (EEG) and heart rate (HR) pattern in preterm infants can give information about the functioning of central nervous system and the integrity of the autonomic nervous system. The developmental and behavioural state determine the pattern of EEG activity. A ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2005.01.007
更新日期：2005-12-01 00:00:00
abstract：:Adrenocorticotropic hormone (ACTH) has been the first-line drug for the treatment of West syndrome, although the therapy has various adverse effects. ACTH depresses resistance to a variety of bacterial, viral, protozoal, and fungal agents. The timing of the various vaccinations is delayed after ACTH therapy in Japan, ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2008.11.007
更新日期：2009-11-01 00:00:00
abstract：:Two brothers, offspring of an Arab inbred family suffered from both mucolipidosis III (ML-III) and Bardet-Biedl syndrome (BBS). Other members of this family were affected either with ML-III, or with BBS. It seems that this unique combination is probably coincidental. ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(12)80072-6
更新日期：1990-01-01 00:00:00
abstract：INTRODUCTION:Chilaiditi syndrome is a rare pathophysiology in which the colon or other organs are interposed between the diaphragm and liver, and respiratory or digestive symptoms sometimes manifest. Although there have been some cases of Chilaiditi syndrome complicating neuromuscular disorders, none have described res...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2017.11.001
更新日期：2018-04-01 00:00:00
abstract：:Molecular background of neurogenetic disease is briefly reviewed. Importance and usefulness of genetic testing are emphasized. Molecular genetics is a powerful tool for investigation of epileptic syndromes. Diagnosis based on gene analysis will give a new insight for pathophysiology and clinical outcome of the patient...
journal_title：Brain & development
pub_type： 历史文章,杂志文章,评审
doi：10.1016/j.braindev.2011.01.007
更新日期：2011-10-01 00:00:00
abstract：:Relative to their numbers, more than twice the number of disabled children fell victim to the Great East Japan Earthquake than did normal people. It was important to find out needs and provide support, as the needs of disabled children vulnerable to the disaster, such as a shortage of diapers of the right size for dis...
journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/j.braindev.2012.09.008
更新日期：2013-03-01 00:00:00
abstract：:154 patients with a mean age of 6 years 1 month were followed on valproate monotherapy for a period ranging from 5 to 27 months (mean 22 months). Absence epilepsies, benign myoclonic epilepsies and epilepsies with tonic-clonic seizures on awakening were the best controlled, followed by benign partial epilepsies and in...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(86)80119-x
更新日期：1986-01-01 00:00:00
abstract：:Mutations in the methyl-CpG-binding protein 2 (MECP2) gene located on Xq28, cause Rett syndrome (RTT) in female patients. Meanwhile, nonmosaic MECP2 mutations unknown in girls have been found in an increasing number of male patients with a normal 46, XY karyotype. They can cause a broad spectrum of neurodevelopmental ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2005.10.007
更新日期：2006-06-01 00:00:00
abstract：BACKGROUND:Biotinidase deficiency (BTD) is an autosomal recessive inborn error of metabolism provoking progressive biotin depletion, which causes, in turn, multiple carboxylase deficiency. Its infantile onset is characterized by intractable seizures associated with lethargy, psychomotor regression, hypotonia, feeding a...
journal_title：Brain & development
pub_type：
doi：10.1016/j.braindev.2020.03.001
更新日期：2020-06-01 00:00:00
abstract：:Progressive multifocal leukoencephalopathy is a demyelinating disease caused by JC virus, an opportunistic infection of the central nervous system. Although the majority of cases are infected with the human immunodeficiency virus (HIV), other immunocompromised patients are also at risk. Purine nucleoside phosphorylase...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2006.07.008
更新日期：2007-03-01 00:00:00
abstract：:As a treatable cause of CNS dysfunctions in the fetal alcohol syndrome (FAS), low-zinc-status in addition to hypoglycemia has been investigated in experimental rat models. During the premating period female rats of an ethanol group and a control group received 30% ethanol (E) and water (W), respectively. During pregna...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(82)80070-3
更新日期：1982-01-01 00:00:00
abstract：OBJECTIVE:Autonomic nervous system activity is recognized as a major component of emotional responses. Future reward/punishment expectations depend upon the process of decision making in the frontal lobe, which is considered to play an important role in executive function. The aim of this study was to investigate the r...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2017.03.004
更新日期：2017-08-01 00:00:00
abstract：:Teratological study on microgyra is rare, and its morphogenesis is still on dispute. Microgyra associated with cranial meningocele and progressive hydrocephalus were induced in rat siblings by administration of 10 mg/kg.bw of n-methyl n-nitrosourea (MNU) to rat dams on day 9 of gestation. Microgyra were closely simila...
journal_title：Brain & development
pub_type： 杂志文章
doi：
更新日期：1982-01-01 00:00:00
abstract：:A 7-year-old boy began to complain that his pitch perception was decreased just after oral medication with carbamazepine was initiated for the treatment of epilepsy. When he played the piano, he felt as if he had played a musical note of almost a half pitch lower than he had. His pitch perception recovered soon after ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(02)00155-9
更新日期：2003-03-01 00:00:00
abstract：:Mutations of the gene encoding the alpha2 subunit of the neuronal sodium channel, SCN2A, have been found in benign familial neonatal-infantile seizures (BFNIS). In Dravet syndrome, only one nonsense mutation of SCN2A was identified, while hundreds of mutations were found in the paralogue gene, SCN1A, which encodes the...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2009.08.009
更新日期：2009-11-01 00:00:00
abstract：PURPOSE:To evaluate the incidence and clinical importance of brain gliomas - optic pathway gliomas (OPGs) and especially gliomas outside the optic pathway (GOOP) for children with neurofibromatosis type 1 (NF1), additionally, to assess the causes of obstructive hydrocephalus in NF1 children with an emphasis on cases ca...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2019.04.003
更新日期：2019-09-01 00:00:00
abstract：BACKGROUND:Germline mutations of the PTEN gene are responsible for several PTEN hamartoma tumor syndromes. They are also implicated as a cause of macrocephaly and mild to severe developmental delay, regardless of the presence or absence of hamartomas in childhood. Nevertheless, because of limited information, the clini...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2018.04.008
更新日期：2018-09-01 00:00:00
abstract：:In this study a comparison of the myelination rate in humans in normal and pathologic conditions was made. The progress of myelination was examined on slides stained by the Klüver-Barrera method and evaluated as to four degrees. The prenatal myelination in the brain stem in a group of newborns who died of pregnancy pa...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(12)80328-7
更新日期：1990-01-01 00:00:00
abstract：:Two cases of convulsive syncope following the insertion of sphenoidal electrodes are reported. The episodes occurred shortly after an uneventful insertion of the needle. Both patients exhibited behavioral arrest with loss of muscle tone, followed by flexor posturing, jerking of the extremities, then followed by what a...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(99)00006-6
更新日期：1999-04-01 00:00:00
abstract：:We recorded serially brainstem auditory evoked response (BAER) during the neonatal period in term infants who suffered perinatal asphyxia. The amplitudes of BAER components was analysed at 40 dB above BAER threshold of each subject who had a threshold journal_title：Brain & development pub_type： 杂志文章 doi：10.1016/j.braindev.2006.03.004 更新日期：2006-10-01 00:00:00
abstract：:We report a 22-year-old male patient with pharmacoresistant epilepsy, mental retardation and dysmorphisms. Standard cytogenetic analysis revealed a de novo interstitial duplication of the short arm of chromosome 11 (11p). High density array-CGH analysis showed that the rearrangement spans about 35Mb on chromosome 11p1...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2009.01.003
更新日期：2010-03-01 00:00:00
abstract：PURPOSE:We studied children younger than 6years old who developed catastrophic epilepsy and were registered in the FACE study group to clarify their clinical characteristics and prevalence of seizure as well as epilepsy types. SUBJECTS:Subjects were prospectively recruited from children with epilepsy who satisfied the...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2013.02.004
更新日期：2013-09-01 00:00:00
abstract：:From the mass screening EEG, 31 primary school children and 17 junior high school (Jr-HS) students with paroxysmal discharge were chosen. An equal number of children with disorganized patterns, including a few borderline ones, and with normal patterns were selected from the same classes. School performance and behavio...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(83)80005-9
更新日期：1983-01-01 00:00:00
abstract：:Congenital muscular dystrophy (CMD) is a heterogenous group of disorders. In the majority of cases the intelligence is preserved, which comprises the classic "occidental" (type 1) form. This type appears to be prevalent in the west. We report a five-case series in Turkey, confirming its geographical distribution. ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(89)80066-x
更新日期：1989-01-01 00:00:00
abstract：:Mutations in the methyl-CpG-binding protein 2 gene (MECP2) are identified in the majority of females with Rett syndrome (RTT), an X-linked dominant neurodevelopmental disorder. We searched for mutations by sequencing the MECP2 coding region in 45 sporadic cases (35 with classic RTT, eight with variant forms and two ma...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(01)00339-4
更新日期：2001-12-01 00:00:00
abstract：:A 2-month-old Japanese girl exhibited tonic seizure, agenesis of the corpus callosum, lacunar chorioretinopathy, vertebral anomalies, electroencephalographic abnormalities and a malignant tumor. Autopsy revealed a hepatoblastoma and severe brain malformations consisting of callosal agenesis, arhinencephaly, marked pol...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(85)80119-4
更新日期：1985-01-01 00:00:00
