Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Sylvia, Szucs"'
Autor:
Daniel A. Kirschner, Constance M. Moore, Thomas N. Seyfried, Elif M. Sikoglu, Huapeng Li, Reuben Matalon, Jun Xie, Sylvia Szucs, Terence R. Flotte, Ana A. Liso Navarro, Andrew R. Denninger, Guangping Gao, Hongwei Zhang, Samuel Eaton, Seemin Seher Ahmed, Chunyan Cao, Qin Su
Publikováno v:
Molecular Therapy. 21:2136-2147
Canavan's disease (CD) is a fatal pediatric leukodystrophy caused by mutations in aspartoacylase (AspA) gene. Currently, there is no effective treatment for CD; however, gene therapy is an attractive approach to ameliorate the disease. Here, we studi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::909841e3b2242fd785a839a676201b74
https://doi.org/10.1038/mt.2013.138
https://doi.org/10.1038/mt.2013.138
Publikováno v:
Molecular Genetics and Metabolism. 102:176-180
Canavan disease is a fatal neurological disease without any effective treatments to slow the relentless progress of this disorder. Enzyme replacement therapy has been used effectively to treat a number of metabolic disorders, but the presence of the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ea8a35fad2ad7028530fd57f99b7cc9
https://doi.org/10.1016/j.ymgme.2010.10.012
https://doi.org/10.1016/j.ymgme.2010.10.012
Autor:
Sylvia Szucs, Reidar Wallin, Reuben Matalon, Susan M. Hutson, R. Mark Payne, James A. MacKenzie, Andrew J. Sweatt, Manisha Nautiyal
Publikováno v:
European Journal of Neuroscience. 32:560-569
The NIPSNAP (4-nitrophenylphosphatase domain and non-neuronal SNAP25-like protein homolog 1) proteins belong to a highly conserved family of proteins of unknown function. We found that NIPSNAP1 binds to the branched-chain α-keto acid (BCKA) dehydrog
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::121e012525474fc6a083ea15d928e606
https://doi.org/10.1111/j.1460-9568.2010.07326.x
https://doi.org/10.1111/j.1460-9568.2010.07326.x
Autor:
Reuben Matalon, Sankar Surendran, Michael J. Quast, Kimberlee Michals Matalon, Stephen K. Tyring, Sylvia Szucs, Edward L. Ezell, Wei Jinga
Publikováno v:
Pediatrics. 112:1570-1574
Objective. The treatment of phenylketo- nuria (PKU) in children and adults has been difficult because of erosion of dietary adherence, leading to poor school performance, impairment of executive function- ing, loss of IQ, and deterioration of white m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c5cccc4b23568e1696027a0e1a7e2688
https://doi.org/10.1542/peds.112.s4.1570
https://doi.org/10.1542/peds.112.s4.1570
Publikováno v:
Scopus-Elsevier
Canavan's disease is an autosomal recessive disorder caused by aspartoacylase deficiency, which leads to accumulation of N-acetylaspartic acid in the brain and blood and an elevated level of N-acetylaspartic acid in the urine. The brain of patients w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c400da837d535a574b120e7f9265a9f5
https://doi.org/10.1177/08830738030180090701
https://doi.org/10.1177/08830738030180090701
Autor:
Michael J. Quast, Sankar Surendran, Reuben Matalon, Gerald A. Campbell, Jingna Wei, Stephen K. Tyring, Sylvia Szucs, Kenneth A. Platt, Michael Nehls, Kimberlee Michals Matalon, Ed L. Ezell, Henry B. Skinner, Peter L. Rady, Jeffrey D. Ceci
Publikováno v:
The Journal of Gene Medicine. 2:165-175
Background Canavan disease (CD) is an autosomal recessive leukodystrophy characterized by deficiency of aspartoacylase (ASPA) and increased levels of N-acetylaspartic acid (NAA) in brain and body fluids, severe mental retardation and early death. Gen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e533c91f854efa682430d14d98ac71dd
https://doi.org/10.1002/(sici)1521-2254(200005/06)2:3<165::aid-jgm107>3.0.co
https://doi.org/10.1002/(sici)1521-2254(200005/06)2:3<165::aid-jgm107>3.0.co
Autor:
Manisha, Nautiyal, Andrew J, Sweatt, James A, MacKenzie, R, Mark Payne, Sylvia, Szucs, Reuben, Matalon, Reidar, Wallin, Susan M, Hutson
Publikováno v:
The European journal of neuroscience. 32(4)
The NIPSNAP (4-nitrophenylphosphatase domain and non-neuronal SNAP25-like protein homolog 1) proteins belong to a highly conserved family of proteins of unknown function. We found that NIPSNAP1 binds to the branched-chain alpha-keto acid (BCKA) dehyd
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::2f9fc978c5a49b4569f3a0207b2dbc99
https://pubmed.ncbi.nlm.nih.gov/20646061
https://pubmed.ncbi.nlm.nih.gov/20646061
Autor:
Diana Hristova, Chikkathur N. Madhavarao, M. A. Aryan Namboodiri, John R. Moffett, Peethambaran Arun, Reuben Matalon, James Y. Garbern, Sylvia Szucs, Wei Jiang, Anne B. Johnson, Sankar Surendran
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America. 102(14)
N-acetylaspartate (NAA) attains one of the highest concentrations of any molecule in the human CNS (1), yet the functions it serves remain controversial. NAA is synthesized from l-aspartate and acetyl CoA in neuronal mitochondria by the enzyme aspart
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::414f46e16f5e38769e6a598b27592244
https://pubmed.ncbi.nlm.nih.gov/15784740
https://pubmed.ncbi.nlm.nih.gov/15784740
Autor:
Peter L. Rady, Stephen K. Tyring, Kimberlee Michals-Matalon, Sankar Surendran, Reuben Matalon, Sylvia Szucs
Publikováno v:
Biochemical and biophysical research communications. 317(2)
Orexins/hypocretins are recently discovered neuropeptides, synthesized mainly in the lateral hypothalamus of the brain. Orexins regulate various functions including sleep and apetite. We recently reported increased amount of orexin A in the phenylket
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a390828e168fe96f5054517503f1548
https://pubmed.ncbi.nlm.nih.gov/15063788
https://pubmed.ncbi.nlm.nih.gov/15063788
Autor:
Reuben, Matalon, Sankar, Surendran, Kimberlee Michals, Matalon, Stephen, Tyring, Michael, Quast, Wei, Jinga, Edward, Ezell, Sylvia, Szucs
Publikováno v:
Pediatrics. 112(6 Pt 2)
The treatment of phenylketonuria (PKU) in children and adults has been difficult because of erosion of dietary adherence, leading to poor school performance, impairment of executive functioning, loss of IQ, and deterioration of white matter in the br
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::292d764f009215d32e7a41a362e87031
https://pubmed.ncbi.nlm.nih.gov/14654667
https://pubmed.ncbi.nlm.nih.gov/14654667