Prosegment of Tripeptidyl Peptidase I Is a Potent, Slow-binding Inhibitor of Its Cognate Enzyme

由 Golabek, Adam A., Dolzhanskaya, Natalia, Walus, Marius, Wisniewski, Krystyna E., Kida, Elizabeth
出版 2008

Increased Expression of the Large Conductance, Calcium-Activated K(+) (BK) Channel in Adult-Onset Neuronal Ceroid Lipofuscinosis

由 Donnelier, Julien, Braun, Samuel T., Dolzhanskaya, Natalia, Ahrendt, Eva, Braun, Andrew P., Velinov, Milen, Braun, Janice E. A.
發表在 PLoS One (2015)

A novel p.Leu(381)Phe mutation in Presenilin 1 is associated with very early onset and unusually fast progressing dementia, and lysosomal inclusions typically seen in Kufs disease

由 Dolzhanskaya, Natalia, Gonzalez, Michael A., Sperziani, Fiorella, Stefl, Shannon, Messing, Jeffrey, Wen, Guang Y, Alexov, Emil, Stephan Zuchner, S, Velinov, Milen
出版 2014

Aggregation of Mutant Cysteine String Protein-α via Fe-S Cluster-Binding is mitigated by Fe-chelators

由 Naseri, Nima N., Ergel, Burçe, Kharel, Parinati, Na, Yoonmi, Huang, Qingqiu, Huang, Rong, Dolzhanskaya, Natalia, Burre, Jacqueline, Velinov, Milen T., Sharma, Manu
發表在 Nat Struct Mol Biol (2020)

On BC1 RNA and the fragile X mental retardation protein

由 Iacoangeli, Anna, Rozhdestvensky, Timofey S., Dolzhanskaya, Natalia, Tournier, Barthélémy, Schütt, Janin, Brosius, Jürgen, Denman, Robert B., Khandjian, Edouard W., Kindler, Stefan, Tiedge, Henri
出版 2008

Reply to Bagni: On BC1 RNA and the fragile X mental retardation protein

由 Iacoangeli, Anna, Rozhdestvensky, Timofey S., Dolzhanskaya, Natalia, Tournier, Barthélémy, Schütt, Janin, Brosius, Jürgen, Denman, Robert B., Khandjian, Edouard W., Kindler, Stefan, Tiedge, Henri
出版 2008

Mutations in the Gene DNAJC5 Cause Autosomal Dominant Kufs Disease in a Proportion of Cases: Study of the Parry Family and 8 Other Families

由 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
出版 2012

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

由 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
出版 2012

Neuronal ceroid lipofuscinosis with DNAJC5/CSP mutations have PPT1 pathology and exhibit aberrant protein palmitoylation

由 Henderson, Michael X., Wirak, Gregory S., Zhang, Yong-quan, Dai, Feng, Ginsberg, Stephen D., Dolzhanskaya, Natalia, Staropoli, John F., Nijssen, Peter CG, Lam, TuKiet T, Roth, Amy F., Davis, Nicholas G., Dawson, Glyn, Velinov, Milen, Chandra, Sreeganga S.
發表在 Acta Neuropathol (2015)

De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy

由 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
發表在 J Med Genet (2016)