Aggregation of mutant cysteine string protein-α via Fe–S cluster binding is mitigated by iron chelators
Naseri, Nima N., Ergel, Burçe, Kharel, Parinati, Na, Yoonmi, Huang, Qingqiu, Huang, Rong, Dolzhanskaya, Natalia, Burré, Jacqueline, Velinov, Milen T., Sharma, Manu
Published in Nature structural & molecular biology (01.02.2020)
Published in Nature structural & molecular biology (01.02.2020)
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Mutations in the gene DNAJC5 cause autosomal dominant Kufs disease in a proportion of cases: study of the Parry family and 8 other families
Velinov, Milen, Dolzhanskaya, Natalia, Gonzalez, Michael, Powell, Eric, Konidari, Ioanna, Hulme, William, Staropoli, John F, Xin, Winnie, Wen, Guang Y, Barone, Rosemary, Coppel, Scott H, Sims, Katherine, Brown, W Ted, Züchner, Stephan
Published in PloS one (03.01.2012)
Published in PloS one (03.01.2012)
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Methylation regulates the intracellular protein-protein and protein-RNA interactions of FMRP
Dolzhanskaya, Natalia, Merz, George, Aletta, John M, Denman, Robert B
Published in Journal of cell science (01.05.2006)
Published in Journal of cell science (01.05.2006)
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Increased Expression of the Large Conductance, Calcium-Activated K+ (BK) Channel in Adult-Onset Neuronal Ceroid Lipofuscinosis
Donnelier, Julien, Braun, Samuel T, Dolzhanskaya, Natalia, Ahrendt, Eva, Braun, Andrew P, Velinov, Milen, Braun, Janice E A
Published in PloS one (23.04.2015)
Published in PloS one (23.04.2015)
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On BC1 RNA and the fragile X mental retardation protein
Iacoangeli, Anna, Rozhdestvensky, Timofey S, Dolzhanskaya, Natalia, Tournier, Barthélémy, Schütt, Janin, Brosius, Jürgen, Denman, Robert B, Khandjian, Edouard W, Kindler, Stefan, Tiedge, Henri
Published in Proceedings of the National Academy of Sciences - PNAS (15.01.2008)
Published in Proceedings of the National Academy of Sciences - PNAS (15.01.2008)
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Tissue and developmental regulation of fragile X mental retardation 1 exon 12 and 15 isoforms
Xie, Wen, Dolzhanskaya, Natalia, LaFauci, Giuseppe, Dobkin, Carl, Denman, Robert B
Published in Neurobiology of disease (01.07.2009)
Published in Neurobiology of disease (01.07.2009)
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The Fragile X Mental Retardation Protein FMRP Binds Elongation Factor 1A mRNA and Negatively Regulates Its Translation in Vivo
Sung, Ying Ju, Dolzhanskaya, Natalia, Nolin, Sarah L., Brown, Ted, Currie, Julia R., Denman, Robert B.
Published in The Journal of biological chemistry (02.05.2003)
Published in The Journal of biological chemistry (02.05.2003)
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Correction: Mutations in the Gene DNAJC5 Cause Autosomal Dominant Kufs Disease in a Proportion of Cases: Study of the Parry Family and 8 Other Families
Velinov, Milen, Dolzhanskaya, Natalia, Gonzalez, Michael, Powell, Eric, Konidari, Ioanna, Hulme, William, Staropoli, John F., Xin, Winnie, Wen, Guang Y., Barone, Rosemary, Coppel, Scott H., Sims, Katherine, Brown, W. Ted, Züchner, Stephan
Published in PloS one (05.09.2012)
Published in PloS one (05.09.2012)
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Reply to Bagni: On BC1 RNA and the fragile X mental retardation protein
Iacoangeli, Anna, Rozhdestvensky, Timofey S, Dolzhanskaya, Natalia, Tournier, Barthélémy, Schütt, Janin, Brosius, Jürgen, Denman, Robert B, Khandjian, Edouard W, Kindler, Stefan, Tiedge, Henri
Published in Proceedings of the National Academy of Sciences - PNAS (03.06.2008)
Published in Proceedings of the National Academy of Sciences - PNAS (03.06.2008)
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Journal Article
Aggregation of mutant cysteine string protein-[alpha] via Fe-S cluster binding is mitigated by iron chelators
Naseri, Nima N, Ergel, Burçe, Kharel, Parinati, Na, Yoonmi, Huang, Qingqiu, Huang, Rong, Dolzhanskaya, Natalia
Published in Nature structural & molecular biology (01.02.2020)
Published in Nature structural & molecular biology (01.02.2020)
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Journal Article
Aggregation of Mutant Cysteine String Protein-α via Fe-S Cluster-Binding is mitigated by Fe-chelators
Naseri, Nima N., Ergel, Burçe, Kharel, Parinati, Na, Yoonmi, Huang, Qingqiu, Huang, Rong, Dolzhanskaya, Natalia, Burre, Jacqueline, Velinov, Milen T., Sharma, Manu
Published in Nature structural & molecular biology (01.02.2020)
Published in Nature structural & molecular biology (01.02.2020)
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Neuronal ceroid lipofuscinosis with DNAJC5/CSPα mutation has PPT1 pathology and exhibit aberrant protein palmitoylation
Henderson, Michael X., Wirak, Gregory S., Zhang, Yong-quan, Dai, Feng, Ginsberg, Stephen D., Dolzhanskaya, Natalia, Staropoli, John F., Nijssen, Peter C. G., Lam, TuKiet T., Roth, Amy F., Davis, Nicholas G., Dawson, Glyn, Velinov, Milen, Chandra, Sreeganga S.
Published in Acta neuropathologica (01.04.2016)
Published in Acta neuropathologica (01.04.2016)
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Clavicular pseudoarthrosis, anomalous coronary artery and extra crease of the fifth finger-previously unreported features in individuals with class II 1q21.1 microdeletions
Velinov, Milen, Dolzhanskaya, Natalia
Published in European journal of medical genetics (01.07.2010)
Published in European journal of medical genetics (01.07.2010)
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Efficient Delivery of IFMR1/I across the Blood Brain Barrier Using AAVphp Construct in Adult IFMR1/I KO Mice Suggests the Feasibility of Gene Therapy for Fragile X Syndrome
Chadman, Kathryn K, Adayev, Tatyana, Udayan, Aishwarya, Ahmed, Rida, Dai, Chun-Ling, Goodman, Jeffrey H, Meeker, Harry, Dolzhanskaya, Natalia, Velinov, Milen
Published in Genes (01.02.2023)
Published in Genes (01.02.2023)
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De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy
de Lange, Iris M, Helbig, Katherine L, Weckhuysen, Sarah, Møller, Rikke S, Velinov, Milen, Dolzhanskaya, Natalia, Marsh, Eric, Helbig, Ingo, Devinsky, Orrin, Tang, Sha, Mefford, Heather C, Myers, Candace T, van Paesschen, Wim, Striano, Pasquale, van Gassen, Koen, van Kempen, Marjan, de Kovel, Carolien G F, Piard, Juliette, Minassian, Berge A, Nezarati, Marjan M, Pessoa, André, Jacquette, Aurelia, Maher, Bridget, Balestrini, Simona, Sisodiya, Sanjay, Warde, Marie Therese Abi, De St Martin, Anne, Chelly, Jamel, van ‘t Slot, Ruben, Van Maldergem, Lionel, Brilstra, Eva H, Koeleman, Bobby P C
Published in Journal of medical genetics (01.12.2016)
Published in Journal of medical genetics (01.12.2016)
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Efficient Delivery of FMR1 across the Blood Brain Barrier Using AAVphp Construct in Adult FMR1 KO Mice Suggests the Feasibility of Gene Therapy for Fragile X Syndrome
Chadman, Kathryn K, Adayev, Tatyana, Udayan, Aishwarya, Ahmed, Rida, Dai, Chun-Ling, Goodman, Jeffrey H, Meeker, Harry, Dolzhanskaya, Natalia, Velinov, Milen
Published in Genes (16.02.2023)
Published in Genes (16.02.2023)
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Journal Article
Increased Expression of the Large Conductance, Calcium-Activated K.sup.+ (BK) Channel in Adult-Onset Neuronal Ceroid Lipofuscinosis
Donnelier, Julien, Braun, Samuel T, Dolzhanskaya, Natalia, Ahrendt, Eva, Braun, Andrew P, Velinov, Milen, Braun, Janice E. A
Published in PloS one (23.04.2015)
Published in PloS one (23.04.2015)
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A Novel p.Leu(381)Phe Mutation in Presenilin 1 is Associated with Very Early Onset and Unusually Fast Progressing Dementia as well as Lysosomal Inclusions Typically Seen in Kufs Disease
Dolzhanskaya, Natalia, Gonzalez, Michael A., Sperziani, Fiorella, Stefl, Shannon, Messing, Jeffrey, Wen, Guang Y., Alexov, Emil, Zuchner, Stephan, Velinov, Milen
Published in Journal of Alzheimer's disease (01.01.2014)
Published in Journal of Alzheimer's disease (01.01.2014)
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