نتایج جستجو برای: aspartoacylase enzyme

تعداد نتایج: 241038  

Journal: :iranian journal of child neurology 0
mahmoodreza ashrafi 1. pediatric neurology division, growth and development research center, children’s medical center, pediatric center of excellence, tehran university of medical science, tehran, iran alireza tavasoli 1. pediatric neurology division, growth and development research center, children’s medical center, pediatric center of excellence, tehran university of medical science, tehran, iran pegah katibeh 1. pediatric neurology division, growth and development research center, children’s medical center, pediatric center of excellence, tehran university of medical science, tehran, iran omid aryani 2. department of medical genetic, national institute for genetic engineering and biotechnology, tehran, iran mohammad vafaee-shahi 1. pediatric neurology division, growth and development research center, children’s medical center, pediatric center of excellence, tehran university of medical science, tehran, iran

how to cite this article: ashrafi mr, tavasoli ar, katibeh p, aryani o, vafaee-shahi m. a novel mutation in aspartoacylase gene; canavan disease. iran j child neurol. autumn 2015; 9(4): 54-57. abstract objective canavan disease (cd) is a type of vacuolating leukodystrophy with autosomal recessive inheritance. aspartoacylase deficiency results in decrease of myelin biosynthesis, dysmyelination a...

متن کامل
2001
Kishore Bhakoo Timothy Craig Peter Styles

Introduction NAA (N-acetyl-aspartate) is the second most abundant molecule in the CNS (after glutamate), its MRS signal is commonly used as a putative marker of viable neurones, and yet little is known about its function. Furthermore, recent data from cell culture has raised the possibility of an additional cellular contribution of NAA from nonneuronal origins, principally in isolated mature ol...

متن کامل
Journal: :Journal of medical genetics 2002
T R Olsen L Tranebjaerg E A Kvittingen L Hagenfeldt C Møller O Nilssen

Canavan disease (CD) (OMIM 271900) is an autosomal recessive leucodystrophy characterised by swelling and spongy degeneration of the white matter of the brain. The biochemical marker for the disorder is increased level of N-acetylaspartic acid (NAA) in cerebrospinal fluid and urine owing to aspartoacylase (ASPA) deficiency. 2 The disease is caused by mutations in the gene encoding the enzyme as...

متن کامل
2002
T R Olsen L Tranebjærg E A Kvittingen L Hagenfeldt C Møller Ø Nilssen

Canavan disease (CD) (OMIM 271900) is an autosomal recessive leucodystrophy characterised by swelling and spongy degeneration of the white matter of the brain. The biochemical marker for the disorder is increased level of N-acetylaspartic acid (NAA) in cerebrospinal fluid and urine owing to aspartoacylase (ASPA) deficiency. 2 The disease is caused by mutations in the gene encoding the enzyme as...

متن کامل
2015
Mahmoudreza ASHRAFI Alireza TAVASOLI Omid ARYANI Mohammad VAFAEE-SHAHI

Introduction Canavan disease (CD) is a type of vacuolating leukodystrophy with autosomal recessive inheritance (1). This neurodegenerative disorder is caused by a defect in the aspartoacylase (ASPA) gene encoding the critical enzyme aspartoacylase, which has the role of hydrolyzing N-acetyl-L-aspartic acid (NAA) and providing the acetyl group to oligodendrocytes for myelin synthesis (2, 3). Asp...

متن کامل
Journal: :Proceedings of the National Academy of Sciences 2006

متن کامل
2015
Seemin Seher Ahmed Seher Ahmed

Canavan’s Disease is a fatal Central Nervous System disorder caused by genetic defects in the enzyme – aspartoacylase and currently has no effective treatment options. We report additional phenotypes in a stringent preclinical aspartoacylase knockout mouse model. Using this model, we developed a gene therapy strategy with intravenous injections of the aspartoacylase gene packaged in recombinant...

متن کامل
Journal: :The FASEB Journal 2006

متن کامل
Journal: :Human Mutation 2017

متن کامل
Journal: :Human gene therapy 2002
Christopher Janson Scott McPhee Larissa Bilaniuk John Haselgrove Mark Testaiuti Andrew Freese Dah-Jyuu Wang David Shera Peter Hurh Joan Rupin Elizabeth Saslow Olga Goldfarb Michael Goldberg Ghassem Larijani William Sharrar Larisa Liouterman Angelique Camp Edwin Kolodny Jude Samulski Paola Leone

This clinical protocol describes virus-based gene transfer for Canavan disease, a childhood leukodystrophy. Canavan disease, also known as Van Bogaert-Bertrand disease, is a monogeneic, autosomal recessive disease in which the gene coding for the enzyme aspartoacylase (ASPA) is defective. The lack of functional enzyme leads to an increase in the central nervous system of the substrate molecule,...

متن کامل

نمودار تعداد نتایج جستجو در هر سال

با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید

function paginate(evt) { url=/search_year_filter/ var term=document.getElementById("search_meta_data").dataset.term pg=parseInt(evt.target.text) var data={ "year":filter_year, "term":term, "pgn":pg } filtered_res=post_and_fetch(data,url) window.scrollTo(0,0); } function update_search_meta(search_meta) { meta_place=document.getElementById("search_meta_data") term=search_meta.term active_pgn=search_meta.pgn num_res=search_meta.num_res num_pages=search_meta.num_pages year=search_meta.year meta_place.dataset.term=term meta_place.dataset.page=active_pgn meta_place.dataset.num_res=num_res meta_place.dataset.num_pages=num_pages meta_place.dataset.year=year document.getElementById("num_result_place").innerHTML=num_res if (year !== "unfilter"){ document.getElementById("year_filter_label").style="display:inline;" document.getElementById("year_filter_place").innerHTML=year }else { document.getElementById("year_filter_label").style="display:none;" document.getElementById("year_filter_place").innerHTML="" } } function update_pagination() { search_meta_place=document.getElementById('search_meta_data') num_pages=search_meta_place.dataset.num_pages; active_pgn=parseInt(search_meta_place.dataset.page); document.getElementById("pgn-ul").innerHTML=""; pgn_html=""; for (i = 1; i <= num_pages; i++){ if (i===active_pgn){ actv="active" }else {actv=""} pgn_li="
  • " +i+ "
    • "; pgn_html+=pgn_li; } document.getElementById("pgn-ul").innerHTML=pgn_html var pgn_links = document.querySelectorAll('.mypgn'); pgn_links.forEach(function(pgn_link) { pgn_link.addEventListener('click', paginate) }) } function post_and_fetch(data,url) { showLoading() xhr = new XMLHttpRequest(); xhr.open('POST', url, true); xhr.setRequestHeader('Content-Type', 'application/json; charset=UTF-8'); xhr.onreadystatechange = function() { if (xhr.readyState === 4 && xhr.status === 200) { var resp = xhr.responseText; resp_json=JSON.parse(resp) resp_place = document.getElementById("search_result_div") resp_place.innerHTML = resp_json['results'] search_meta = resp_json['meta'] update_search_meta(search_meta) update_pagination() hideLoading() } }; xhr.send(JSON.stringify(data)); } function unfilter() { url=/search_year_filter/ var term=document.getElementById("search_meta_data").dataset.term var data={ "year":"unfilter", "term":term, "pgn":1 } filtered_res=post_and_fetch(data,url) } function deactivate_all_bars(){ var yrchart = document.querySelectorAll('.ct-bar'); yrchart.forEach(function(bar) { bar.dataset.active = false bar.style = "stroke:#71a3c5;" }) } year_chart.on("created", function() { var yrchart = document.querySelectorAll('.ct-bar'); yrchart.forEach(function(check) { check.addEventListener('click', checkIndex); }) }); function checkIndex(event) { var yrchart = document.querySelectorAll('.ct-bar'); var year_bar = event.target if (year_bar.dataset.active == "true") { unfilter_res = unfilter() year_bar.dataset.active = false year_bar.style = "stroke:#1d2b3699;" } else { deactivate_all_bars() year_bar.dataset.active = true year_bar.style = "stroke:#e56f6f;" filter_year = chart_data['labels'][Array.from(yrchart).indexOf(year_bar)] url=/search_year_filter/ var term=document.getElementById("search_meta_data").dataset.term var data={ "year":filter_year, "term":term, "pgn":1 } filtered_res=post_and_fetch(data,url) } } function showLoading() { document.getElementById("loading").style.display = "block"; setTimeout(hideLoading, 10000); // 10 seconds } function hideLoading() { document.getElementById("loading").style.display = "none"; } -->