N. Dolzhanskaya

发表

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

A. Iacoangeli, É. Khandjian, J. Brosius, 2008, Proceedings of the National Academy of Sciences.

Dysmorphic features, cognitive disability, chronic inflammation, and predisposition to vascular disease in two sisters: a new autosomal recessive disorder?

N. Feldstein, M. Velinov, R. Madrid, 2012, Clinical dysmorphology.

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

K. Wisniewski, A. Golabek, N. Dolzhanskaya, 2008, Journal of Biological Chemistry.

Chinese hamster cells expressing antisense to metallothionein become spontaneous mutators.

A. Nadas, E. Goncharova, T. Rossman, 1997, Mutation research.

Self-cleaving-ribozyme-mediated reduction of betaAPP in human rhabdomyosarcoma cells.

G. Merz, R. Denman, N. Dolzhanskaya, 2001, Archives of biochemistry and biophysics.

EGFP-FMRP forms proto-stress granules: A poor surrogate for endogenous FMRP

W. Xie, G. Merz, R. Denman, 2011 .

Neuronal ceroid lipofuscinosis with DNAJC5/CSPα mutation has PPT1 pathology and exhibit aberrant protein palmitoylation

S. Chandra, S. Ginsberg, A. Roth, 2016, Acta Neuropathologica.

A model for genetic correction of family hypercholesterolemia

F. Vikhanskaya, R. Krutilina, N. Dolzhanskaya, 1990 .

In Vivo Ribozyme Targeting of βAPP+ mRNAs

G. Merz, R. Denman, N. Dolzhanskaya, 2000 .

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

S. Züchner, W. Brown, Michael A. Gonzalez, 2012, PloS one.

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

S. Züchner, W. Brown, Michael A. Gonzalez, 2012, PLoS ONE.

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

Orrin Devinsky, Eric Marsh, Pasquale Striano, 2016, Journal of Medical Genetics.

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.

Shannon K. Stefl, E. Alexov, Michael A. Gonzalez, 2014, Journal of Alzheimer's disease : JAD.

Expression of the human α-1-antitrypsin gene in heterologous mammalian cells

A. Shvartsman, N. Dolzhanskaya, V. Gaitskhoki, 1994, Bulletin of Experimental Biology and Medicine.

Oxidative stress reveals heterogeneity of FMRP granules in PC12 cell neurites

G. Merz, R. Denman, N. Dolzhanskaya, 2006, Brain Research.

A novel 1.4 Mb de novo microdeletion of chromosome 1q21.3 in a child with microcephaly, dysmorphic features and mental retardation.

M. Velinov, N. Dolzhanskaya, S. Reddy, 2009, European journal of medical genetics.

Clavicular pseudoarthrosis, anomalous coronary artery and extra crease of the fifth finger-previously unreported features in individuals with class II 1q21.1 microdeletions.

M. Velinov, N. Dolzhanskaya, 2010, European journal of medical genetics.

Regulating a translational regulator: mechanisms cells use to control the activity of the fragile X mental retardation protein

R. Denman, Y. Sung, N. Dolzhanskaya, 2004, Cellular and Molecular Life Sciences CMLS.

Chemical and structural probing of the N-terminal residues encoded by FMR1 exon 15 and their effect on downstream arginine methylation.

D. Bolton, R. Denman, N. Dolzhanskaya, 2008, Biochemistry.

Methylation regulates the intracellular protein-protein and protein-RNA interactions of FMRP

G. Merz, R. Denman, J. Aletta, 2006, Journal of Cell Science.

De-novo 2.15 Mb terminal Xq duplication involving MECP2 but not L1CAM gene in a male patient with mental retardation

W. Brown, B. Dallapiccola, L. Bernardini, 2009, Clinical Dysmorphology.

On BC1 RNA and the fragile X mental retardation protein

A. Iacoangeli, É. Khandjian, J. Brosius, 2008, Proceedings of the National Academy of Sciences.

The Fragile X Mental Retardation Protein FMRP Binds Elongation Factor 1A mRNA and Negatively Regulates Its Translation in Vivo *

S. Nolin, R. Denman, Y. Sung, 2003, The Journal of Biological Chemistry.

Tissue and developmental regulation of fragile X mental retardation 1 exon 12 and 15 isoforms

G. Lafauci, W. Xie, R. Denman, 2009, Neurobiology of Disease.

Isolation and properties of lead-resistant variants of rat glioma cells

N. Dolzhanskaya, Ekaterima Gomcharova, Toby G. Rossmam, 1998, Biological Trace Element Research.

Aggregation of mutant cysteine string protein-α via Fe–S cluster binding is mitigated by iron chelators

M. Velinov, Jacqueline Burré, Manu Sharma, 2020, Nature Structural & Molecular Biology.

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

Chun-ling Dai, M. Velinov, T. Adayev, 2022, bioRxiv.

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

A. Braun, M. Velinov, J. Braun, 2015, PloS one.

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

M. Velinov, Jacqueline Burré, Manu Sharma, 2020, Nature Structural & Molecular Biology.

Alternative splicing modulates protein arginine methyltransferase-dependent methylation of fragile X syndrome mental retardation protein.

G. Merz, R. Denman, N. Dolzhanskaya, 2006, Biochemistry.

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

S. Züchner, W. Brown, Michael A. Gonzalez, 2012, PLoS ONE.

The fragile X mental retardation protein interacts with U-rich RNAs in a yeast three-hybrid system.

R. Denman, Y. Sung, N. Dolzhanskaya, 2003, Biochemical and biophysical research communications.

Modeling the genetic correction of familial hypercholesterolemia by generating cell clones with stable expression of the receptor for low density lipoproteins

A. Shvartsman, O. Runova, N. Dolzhanskaya, 1993, Bulletin of Experimental Biology and Medicine.