Zobrazeno 1 - 10
of 29
pro vyhledávání: '"Natalia Dolzhanskaya"'
Publikováno v:
Neurobiology of Disease, Vol 35, Iss 1, Pp 52-62 (2009)
The pre-mRNA of the fragile X mental retardation 1 gene (FMR1) is subject to exon skipping and alternative splice site selection, which can generate up to 12 isoforms. The expression and function of these variants in vivo has not yet been fully explo
Externí odkaz:
https://doaj.org/article/12e281ce69624b3cb880a2ba951fece9
Autor:
Julien Donnelier, Samuel T Braun, Natalia Dolzhanskaya, Eva Ahrendt, Andrew P Braun, Milen Velinov, Janice E A Braun
Publikováno v:
PLoS ONE, Vol 10, Iss 4, p e0125205 (2015)
Cysteine string protein (CSPα) is a presynaptic J protein co-chaperone that opposes neurodegeneration. Mutations in CSPα (i.e., Leu115 to Arg substitution or deletion (Δ) of Leu116) cause adult neuronal ceroid lipofuscinosis (ANCL), a dominantly i
Externí odkaz:
https://doaj.org/article/b708a283e9e3406fb2429c4cbeb65512
Autor:
Milen Velinov, Natalia Dolzhanskaya, Michael Gonzalez, Eric Powell, Ioanna Konidari, William Hulme, John F Staropoli, Winnie Xin, Guang Y Wen, Rosemary Barone, Scott H Coppel, Katherine Sims, W Ted Brown, Stephan Züchner
Publikováno v:
PLoS ONE, Vol 7, Iss 1, p e29729 (2012)
The Neuronal Ceroid Lipofuscinoses (NCL) comprise at least nine progressive neurodegenerative genetic disorders. Kufs disease, an adult-onset form of NCL may be recessively or dominantly inherited. Our study aimed to identify genetic mutations associ
Externí odkaz:
https://doaj.org/article/da6f590e98dc4500b26f6f0b6d91c488
Autor:
Milen Velinov, Natalia Dolzhanskaya, Michael Gonzalez, Eric Powell, Ioanna Konidari, William Hulme, John F. Staropoli, Winnie Xin, Guang Y. Wen, Rosemary Barone, Scott H. Coppel, Katherine Sims, W. Ted Brown, Stephan Züchner
Publikováno v:
PLoS ONE, Vol 7, Iss 9 (2012)
Externí odkaz:
https://doaj.org/article/7b0983ed10454178adaea877bd2d2084
Autor:
Kathryn K. Chadman, Tatyana Adayev, Aishwarya Udayan, Rida Ahmed, Chun-Ling Dai, Jeffrey H. Goodman, Harry Meeker, Natalia Dolzhanskaya, Milen Velinov
Publikováno v:
Genes
Volume 14
Issue 2
Pages: 505
Volume 14
Issue 2
Pages: 505
Background Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability and autism. Gene therapy may offer an efficient method to ameliorate the symptoms of this disorder. Methods An AAVphp.eb-hSyn-mFMR1IOS7 vector and an em
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f61bff2805e242b27e57f0d8d7558458
Autor:
Kathryn K. Chadman, Tatyana Adayev, Aishwarya Udayan, Rida Ahmed, Chun-Ling Dai, Jeffrey H. Goodman, Harry Meeker, Natalia Dolzhanskaya, Milen Velinov
BackgroundFragile X syndrome (FXS) is the most common inherited cause of intellectual disability and autism. Gene therapy may offer an efficient method to ameliorate symptoms of the disorder.MethodsAn AAVphp.eb-hSyn-mFMR1IOS7 vector and an empty cont
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fa7d1775c793cf1654eb6c30b56296b3
https://doi.org/10.1101/2022.12.22.520936
https://doi.org/10.1101/2022.12.22.520936
Autor:
Parinati Kharel, Jacqueline Burré, Milen Velinov, Nima N. Naseri, Manu Sharma, Natalia Dolzhanskaya, Rong Huang, Burce Ergel, Qingqiu Huang, Yoonmi Na
Publikováno v:
Nature structural & molecular biology
Point mutations in cysteine string protein-α (CSPα) cause dominantly inherited adult-onset neuronal ceroid lipofuscinosis (ANCL), a rapidly progressing and lethal neurodegenerative disease with no treatment. ANCL mutations are proposed to trigger C
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::856ae3c6b665673b561e08966ca0f93b
https://doi.org/10.1038/s41594-020-0375-y
https://doi.org/10.1038/s41594-020-0375-y
Autor:
Peter C G Nijssen, Amy F. Roth, John F. Staropoli, Michael X. Henderson, Gregory S. Wirak, Glyn Dawson, Natalia Dolzhanskaya, TuKiet T. Lam, Sreeganga S. Chandra, Yong-quan Zhang, Stephen D. Ginsberg, Feng Dai, Milen Velinov, Nicholas G. Davis
Publikováno v:
Acta Neuropathologica. 131:621-637
Neuronal ceroid lipofuscinoses (NCL) are a group of inherited neurodegenerative disorders with lysosomal pathology (CLN1-14). Recently, mutations in the DNAJC5/CLN4 gene, which encodes the presynaptic co-chaperone CSPα were shown to cause autosomal-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4507fdd9165f61b3eb1bd3c64d24a949
https://doi.org/10.1007/s00401-015-1512-2
https://doi.org/10.1007/s00401-015-1512-2
Autor:
Emil Alexov, Guang Y. Wen, Milen Velinov, Stephan Züchner, Natalia Dolzhanskaya, Fiorella Sperziani, Michael A. Gonzalez, Jeffrey Messing, Shannon K. Stefl
Publikováno v:
Journal of Alzheimer's Disease. 39:23-27
Whole exome sequencing in a family with suspected dominant Kufs disease identified a novel Presenilin 1 mutation p.Leu(381)Phe in three brothers who, along with their father, developed progressive dementia and motor deficits in their early 30s. All a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76306ee948fc386f6d1cec8d90b98c13
https://doi.org/10.3233/jad-131340
https://doi.org/10.3233/jad-131340
Autor:
W. Ted Brown, Anna Capalbo, Hong Gu, Milen Velinov, Michael Fenko, Natalia Dolzhanskaya, Bruno Dallapiccola, Laura Bernardini, Edmund C. Jenkins, Antonio Novelli
Publikováno v:
Clinical Dysmorphology. 18:9-12
Distal Xq disomy in males results in characteristic phenotypes that typically include mental retardation, microcephaly, prominent hypotonia and hypogonadism. The 8-year-old male patient reported here presented with mental retardation, prominent ears,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ff2525ca2a571b7c70a46ba08fd89b7
https://doi.org/10.1097/mcd.0b013e3283157cad
https://doi.org/10.1097/mcd.0b013e3283157cad