-
1
-
-
62549117369
-
Friedreich ataxia: The clinical picture
-
Pandolfo, M. Friedreich ataxia: the clinical picture. J. Neurol. 256, 3-8 (2009).
-
(2009)
J. Neurol.
, vol.256
, pp. 3-8
-
-
Pandolfo, M.1
-
2
-
-
84886408704
-
Clinical neurogenetics: Ataxia
-
Collins, A. Clinical neurogenetics: ataxia. Neurol. Clin. 31, 1095-1120 (2013).
-
(2013)
Neurol. Clin.
, vol.31
, pp. 1095-1120
-
-
Collins, A.1
-
3
-
-
79957959532
-
Friedreich's ataxia: Past, present and future
-
Marmolino, D. Friedreich's ataxia: past, present and future. Brain Res. Rev. 67, 311-330 (2011).
-
(2011)
Brain Res. Rev.
, vol.67
, pp. 311-330
-
-
Marmolino, D.1
-
4
-
-
84906273771
-
Epigenetic-based therapies for Friedreich ataxia
-
Sandi, C., Sandi, M., Virmouni, S. A., Al-Mahdawi, S., Pook, M. A. Epigenetic-based therapies for Friedreich ataxia. Front. Genet. 5, 1-12 (2014).
-
(2014)
Front. Genet.
, vol.5
, pp. 1-12
-
-
Sandi, C.1
Sandi, M.2
Virmouni, S.A.3
Al-Mahdawi, S.4
Pook, M.A.5
-
5
-
-
84878488044
-
Therapeutic strategies in Friedreich's ataxia
-
Richardson, T. E., Kelly, H. N., Yu, A. E., Simpkins, J. W. Therapeutic strategies in Friedreich's ataxia. Brain Res. 1514, 91-97 (2013).
-
(2013)
Brain Res
, vol.1514
, pp. 91-97
-
-
Richardson, T.E.1
Kelly, H.N.2
Yu, A.E.3
Simpkins, J.W.4
-
6
-
-
84880354651
-
Increasing frataxin gene expression with histone deacetylase inhibitors as a therapeutic approach for Friedreich's ataxia
-
Gottesfeld, J. M., Rusche, J. R., Pandolfo, M. Increasing frataxin gene expression with histone deacetylase inhibitors as a therapeutic approach for Friedreich's ataxia. J. Neurochem. 126, 147-154 (2013).
-
(2013)
J. Neurochem.
, vol.126
, pp. 147-154
-
-
Gottesfeld, J.M.1
Rusche, J.R.2
Pandolfo, M.3
-
7
-
-
34250830900
-
Repeat-induced epigenetic changes in intron 1 of the frataxin gene and its consequences in Friedreich ataxia
-
Greene, E., Mahishi, L., Entezam, A., Kumari, D., Usdin, K. Repeat-induced epigenetic changes in intron 1 of the frataxin gene and its consequences in Friedreich ataxia. Nucleic Acids Res. 35, 3383-3390 (2007).
-
(2007)
Nucleic Acids Res
, vol.35
, pp. 3383-3390
-
-
Greene, E.1
Mahishi, L.2
Entezam, A.3
Kumari, D.4
Usdin, K.5
-
8
-
-
39749136603
-
The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues
-
Al-Mahdawi, S. et al. The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues. Hum. Mol. Genet. 17, 735-746 (2008).
-
(2008)
Hum. Mol. Genet.
, vol.17
, pp. 735-746
-
-
Al-Mahdawi, S.1
-
9
-
-
84862811546
-
Chromatin changes in the development and pathology of the Fragile X-associated disorders and Friedreich ataxia
-
Kumari, D., Lokanga, R., Yudkin, D., Zhao, X.-N., Usdin, K. Chromatin changes in the development and pathology of the Fragile X-associated disorders and Friedreich ataxia. Biochim. Biophys. Acta 1819, 802-810 (2012).
-
(2012)
Biochim. Biophys. Acta
, vol.1819
, pp. 802-810
-
-
Kumari, D.1
Lokanga, R.2
Yudkin, D.3
Zhao, X.-N.4
Usdin, K.5
-
10
-
-
79954628287
-
Prolonged treatment with pimelic o-aminobenzamide HDAC inhibitors ameliorates the disease phenotype of a Friedreich ataxia mouse model
-
Sandi, C. et al. Prolonged treatment with pimelic o-aminobenzamide HDAC inhibitors ameliorates the disease phenotype of a Friedreich ataxia mouse model. Neurobiol. Dis. 42, 496-505 (2011).
-
(2011)
Neurobiol. Dis.
, vol.42
, pp. 496-505
-
-
Sandi, C.1
-
11
-
-
84878912414
-
Heterochromatinization induced by GAA-repeat hyperexpansion in Friedreich's ataxia can be reduced upon HDAC inhibition by vitamin B3
-
Chan, P. K. et al. Heterochromatinization induced by GAA-repeat hyperexpansion in Friedreich's ataxia can be reduced upon HDAC inhibition by vitamin B3. Hum. Mol. Genet. 22, 2662-2675 (2013).
-
(2013)
Hum. Mol. Genet.
, vol.22
, pp. 2662-2675
-
-
Chan, P.K.1
-
12
-
-
84906326678
-
Epigenetic and neurological effects and safety of high-dose nicotinamide in patients with Friedreich's ataxia: An exploratory, open-label, dose-escalation study
-
Libri, V. et al. Epigenetic and neurological effects and safety of high-dose nicotinamide in patients with Friedreich's ataxia: an exploratory, open-label, dose-escalation study. Lancet 384, 504-513 (2014).
-
(2014)
Lancet
, vol.384
, pp. 504-513
-
-
Libri, V.1
-
13
-
-
84907815534
-
Epigenetic therapy for Friedreich ataxia
-
Soragni, E. et al. Epigenetic therapy for Friedreich ataxia. Ann. Neurol. 76, 489-508 (2014).
-
(2014)
Ann. Neurol.
, vol.76
, pp. 489-508
-
-
Soragni, E.1
-
14
-
-
85005893624
-
Dyclonine rescues frataxin deficiency in animal models and buccal cells of patients with Friedreich's ataxia
-
Sahdeo, S. et al. Dyclonine rescues frataxin deficiency in animal models and buccal cells of patients with Friedreich's ataxia. Hum. Mol. Genet. 23, 6848-6862 (2014).
-
(2014)
Hum. Mol. Genet.
, vol.23
, pp. 6848-6862
-
-
Sahdeo, S.1
-
15
-
-
0032486276
-
Inhibitory effects of expanded GAA.TTC triplet repeats from intron i of the Friedreich ataxia gene on transcription and replication in vivo
-
Ohshima, K., Montermini, L., Wells, R. D., Pandolfo, M. Inhibitory effects of expanded GAA.TTC triplet repeats from intron I of the Friedreich ataxia gene on transcription and replication in vivo. J. Biol. Chem. 273, 14588-14595 (1998).
-
(1998)
J. Biol. Chem.
, vol.273
, pp. 14588-14595
-
-
Ohshima, K.1
Montermini, L.2
Wells, R.D.3
Pandolfo, M.4
-
16
-
-
0031941447
-
The GAA triplet-repeat expansion in Friedreich ataxia interferes with transcription and may be associated with an unusual DNA structure
-
Bidichandani, S. I., Ashizawa, T., Patel, P. I. The GAA triplet-repeat expansion in Friedreich ataxia interferes with transcription and may be associated with an unusual DNA structure. Am. J. Hum. Genet. 62, 111-121 (1998).
-
(1998)
Am. J. Hum. Genet.
, vol.62
, pp. 111-121
-
-
Bidichandani, S.I.1
Ashizawa, T.2
Patel, P.I.3
-
17
-
-
34548775695
-
A persistent RNA. DNA hybrid formed by transcription of the Friedreich ataxia triplet repeat in live bacteria, by T7 RNAP in vitro
-
Grabczyk, E., Mancuso, M., Sammarco, M. C. A persistent RNA. DNA hybrid formed by transcription of the Friedreich ataxia triplet repeat in live bacteria, by T7 RNAP in vitro. Nucleic Acids Res. 35, 5351-5359 (2007).
-
(2007)
Nucleic Acids Res
, vol.35
, pp. 5351-5359
-
-
Grabczyk, E.1
Mancuso, M.2
Sammarco, M.C.3
-
18
-
-
84901626668
-
R-loops associated with triplet repeat expansions promote gene silencing in Friedreich ataxia and fragile X syndrome
-
Groh, M., Lufino, M. M. P., Wade-Martins, R., Gromak, N. R-loops associated with triplet repeat expansions promote gene silencing in Friedreich ataxia and fragile X syndrome. N. PLoS Genet. 10, e1004318 (2014).
-
(2014)
N. PLoS Genet.
, vol.10
, pp. e1004318
-
-
Groh, M.1
Lufino, M.M.P.2
Wade-Martins, R.3
Gromak, N.4
-
19
-
-
84905822639
-
Mechanisms of transcriptional dysregulation in repeat expansion disorders
-
Groh, M., Sliva, L. M., Gromak, N. Mechanisms of transcriptional dysregulation in repeat expansion disorders. Biochem. Soc. Trans. 42, 1123-1128 (2014).
-
(2014)
Biochem. Soc. Trans.
, vol.42
, pp. 1123-1128
-
-
Groh, M.1
Sliva, L.M.2
Gromak, N.3
-
20
-
-
84941798017
-
Friedreich's Ataxia-a case of aberrant transcription termination
-
Butler, J. S., Napierala, M. Friedreich's Ataxia-a case of aberrant transcription termination. Transcription 6, 33-36 (2015).
-
(2015)
Transcription
, vol.6
, pp. 33-36
-
-
Butler, J.S.1
Napierala, M.2
-
21
-
-
84956900422
-
Expanded GAA repeats impede transcription elongation through the FXN gene and induce transcriptional silencing that is restricted to the FXN locus
-
Li, Y. et al. Expanded GAA repeats impede transcription elongation through the FXN gene and induce transcriptional silencing that is restricted to the FXN locus. Hum. Mol. Genet. 24, 6932-6943 (2015).
-
(2015)
Hum. Mol. Genet.
, vol.24
, pp. 6932-6943
-
-
Li, Y.1
-
22
-
-
84903168540
-
Oligonucleotide-based strategies to combat polyglutamine diseases
-
Fiszer, A., Krzyzosiak, W. J. Oligonucleotide-based strategies to combat polyglutamine diseases. Nucleic Acids Res. 42, 6787-6810 (2014).
-
(2014)
Nucleic Acids Res
, vol.42
, pp. 6787-6810
-
-
Fiszer, A.1
Krzyzosiak, W.J.2
-
23
-
-
84904634045
-
Allele-selective inhibition of mutant atrophin-1 expression by duplex and single-stranded RNAs
-
Hu, J. et al. Allele-selective inhibition of mutant atrophin-1 expression by duplex and single-stranded RNAs. Biochemistry 53, 4510-4518 (2014).
-
(2014)
Biochemistry
, vol.53
, pp. 4510-4518
-
-
Hu, J.1
-
24
-
-
84873626217
-
Long non-coding RNA targeting and transcriptional de-repression
-
Weinberg, M. S., Morris, K. V. Long non-coding RNA targeting and transcriptional de-repression. Nucleic Acid Ther. 23, 9-14 (2013).
-
(2013)
Nucleic Acid Ther
, vol.23
, pp. 9-14
-
-
Weinberg, M.S.1
Morris, K.V.2
-
25
-
-
84890409577
-
Promoter RNA links transcriptional regulation of inflammatory pathway genes
-
Matsui, M. et al. Promoter RNA links transcriptional regulation of inflammatory pathway genes. Nucleic Acids Res. 41, 10086-10109 (2013).
-
(2013)
Nucleic Acids Res
, vol.41
, pp. 10086-10109
-
-
Matsui, M.1
-
26
-
-
84892544892
-
RNAi factors are present and active in human cell nuclei
-
Gagnon, K. T., Li, L., Chu, Y., Janowski, B. A., Corey, D. R. RNAi factors are present and active in human cell nuclei. Cell Rep. 6, 211-221 (2014).
-
(2014)
Cell Rep
, vol.6
, pp. 211-221
-
-
Gagnon, K.T.1
Li, L.2
Chu, Y.3
Janowski, B.A.4
Corey, D.R.5
-
27
-
-
57749206034
-
Structure of an argonaute silencing complex with a seedcontaining guide DNA and target RNA duplex
-
Wang, Y. et al. Structure of an argonaute silencing complex with a seedcontaining guide DNA and target RNA duplex. Nature 456, 921-926 (2008).
-
(2008)
Nature
, vol.456
, pp. 921-926
-
-
Wang, Y.1
-
28
-
-
33748778745
-
Histone deacetylase inhibitors reverse gene silencing in Friedreich's ataxia
-
Herman, D. et al. Histone deacetylase inhibitors reverse gene silencing in Friedreich's ataxia. Nat. Chem. Biol. 2, 551-558 (2006).
-
(2006)
Nat. Chem. Biol.
, vol.2
, pp. 551-558
-
-
Herman, D.1
-
29
-
-
4444368187
-
Argonaute2 is the catalytic engine of mammalian RNAi
-
Liu, J. et al. Argonaute2 is the catalytic engine of mammalian RNAi. Science 305, 1437-1441 (2004).
-
(2004)
Science
, vol.305
, pp. 1437-1441
-
-
Liu, J.1
-
30
-
-
77953659252
-
Long intronic GAA repeats causing Friedreich ataxia impede transcription elongation
-
Punga, T., Bühler, M. Long intronic GAA repeats causing Friedreich ataxia impede transcription elongation. EMBO Mol. Med. 2, 120-129 (2010).
-
(2010)
EMBO Mol. Med.
, vol.2
, pp. 120-129
-
-
Punga, T.1
Bühler, M.2
-
31
-
-
81455144711
-
Locked versus unlocked nucleic acids (LNA versus UNA): Contrasting structures work towards common therapeutic goals
-
Campbell, M. A., Wengel, J. Locked versus unlocked nucleic acids (LNA versus UNA): contrasting structures work towards common therapeutic goals. Chem. Soc. Rev. 40, 5680-5689 (2011).
-
(2011)
Chem. Soc. Rev.
, vol.40
, pp. 5680-5689
-
-
Campbell, M.A.1
Wengel, J.2
-
32
-
-
82755161958
-
Silencing disease genes in the laboratory and the clinic
-
Watts, J. K., Corey, D. R. Silencing disease genes in the laboratory and the clinic. J. Pathol. 226, 365-379 (2012).
-
(2012)
J. Pathol.
, vol.226
, pp. 365-379
-
-
Watts, J.K.1
Corey, D.R.2
-
33
-
-
84883118140
-
Safety and efficacy of RNAi therapy for transthyretin amyloidosis
-
Coelho, T. et al. Safety and efficacy of RNAi therapy for transthyretin amyloidosis. N. Engl. J. Med. 369, 819-829 (2013).
-
(2013)
N. Engl. J. Med.
, vol.369
, pp. 819-829
-
-
Coelho, T.1
-
34
-
-
79551530731
-
Oligonucleotide therapeutic approaches for Huntington disease
-
Sah, D. W. Y., Aronin, N. Oligonucleotide therapeutic approaches for Huntington disease. J. Clin. Invest. 121, 500-507 (2011).
-
(2011)
J. Clin. Invest.
, vol.121
, pp. 500-507
-
-
Sah, D.W.Y.1
Aronin, N.2
-
35
-
-
84923172195
-
R-loops induce repressive chromatin marks over mammalian gene terminators
-
Skourti-Stathaki, K., Kamieniarz-Gdula, K., Proudfoot, N. J. R-loops induce repressive chromatin marks over mammalian gene terminators. Nature 516, 436-439 (2014).
-
(2014)
Nature
, vol.516
, pp. 436-439
-
-
Skourti-Stathaki, K.1
Kamieniarz-Gdula, K.2
Proudfoot, N.J.3
-
36
-
-
84865688581
-
Single-stranded RNAs that function through RNAi are potent and allele-selective inhibitors of huntingtin expression
-
Yu, D. et al. Single-stranded RNAs that function through RNAi are potent and allele-selective inhibitors of huntingtin expression. Cell 150, 895-908 (2012).
-
(2012)
Cell
, vol.150
, pp. 895-908
-
-
Yu, D.1
-
37
-
-
78649874963
-
Involvement of argonaute proteins in gene silencing and activation by RNAs complementary to a non-coding transcript at the progesterone receptor promoter
-
Chu, Y., Yue, X., Younger, S. T., Janowski, B. A., Corey, D. R. Involvement of argonaute proteins in gene silencing and activation by RNAs complementary to a non-coding transcript at the progesterone receptor promoter. Nucleic Acids Res. 38, 7736-7748 (2010).
-
(2010)
Nucleic Acids Res
, vol.38
, pp. 7736-7748
-
-
Chu, Y.1
Yue, X.2
Younger, S.T.3
Janowski, B.A.4
Corey, D.R.5
-
38
-
-
84863116114
-
Expanding the action of duplex RNAs into the nucleus: Redirecting alternative splicing
-
Liu, J., Hu, J., Corey, D. R. Expanding the action of duplex RNAs into the nucleus: redirecting alternative splicing. Nucleic Acids Res. 40, 1240-1250 (2012).
-
(2012)
Nucleic Acids Res
, vol.40
, pp. 1240-1250
-
-
Liu, J.1
Hu, J.2
Corey, D.R.3
-
39
-
-
84906938579
-
Import routes and nuclear functions of Argonaute and other small RNA-silencing proteins
-
Schraivogel, D., Meister, G. Import routes and nuclear functions of Argonaute and other small RNA-silencing proteins. Trends Biochem. Sci. 39, 420-431 (2014).
-
(2014)
Trends Biochem. Sci.
, vol.39
, pp. 420-431
-
-
Schraivogel, D.1
Meister, G.2
-
40
-
-
84941588202
-
Importin-beta facilitates nuclear import of human GW proteins and balances cytoplasmic gene silencing protein levels
-
Schraivogel, D. et al. Importin-beta facilitates nuclear import of human GW proteins and balances cytoplasmic gene silencing protein levels. Nucleic Acids Res. 43, 7447-7461 (2015).
-
(2015)
Nucleic Acids Res
, vol.43
, pp. 7447-7461
-
-
Schraivogel, D.1
-
41
-
-
67650299463
-
Control of alternative splicing through siRNA-mediated transcriptional gene silencing
-
Allo, M. et al. Control of alternative splicing through siRNA-mediated transcriptional gene silencing. Nat. Struct. Mol. Biol. 16, 717-724 (2009).
-
(2009)
Nat. Struct. Mol. Biol.
, vol.16
, pp. 717-724
-
-
Allo, M.1
-
42
-
-
4344705410
-
Small interfering RNA-induced transcriptional gene silencing in human cells
-
Morris, K. V., Chan, S. W., Jacobsen, S. E., Looney, D. J. Small interfering RNA-induced transcriptional gene silencing in human cells. Science 305, 1289-1292 (2004).
-
(2004)
Science
, vol.305
, pp. 1289-1292
-
-
Morris, K.V.1
Chan, S.W.2
Jacobsen, S.E.3
Looney, D.J.4
-
43
-
-
33751251990
-
Small dsRNAs induce transcriptional activation in human cells
-
Li, L. C. et al. Small dsRNAs induce transcriptional activation in human cells. Proc. Natl Acad. Sci. USA 103, 17337-17342 (2006).
-
(2006)
Proc. Natl Acad. Sci. USA
, vol.103
, pp. 17337-17342
-
-
Li, L.C.1
-
44
-
-
84921813324
-
RNAa in action: From exception to the norm
-
Guo, D., Barry, L., Lin, S. S. H., Huang, V., Li, L.-C. RNAa in action: From exception to the norm. RNA Biol. 11, 1221-1225 (2014).
-
(2014)
RNA Biol
, vol.11
, pp. 1221-1225
-
-
Guo, D.1
Barry, L.2
Lin, S.S.H.3
Huang, V.4
Li, L.-C.5
-
45
-
-
84901346090
-
Transcriptionassociated R-loop formation across the human FMR1 CGG-repeat region
-
Loomis, E. W., Sanz, L. A., Chedin, F., Hagerman, P. J. Transcriptionassociated R-loop formation across the human FMR1 CGG-repeat region. PLoS Genet. 10, e1004294 (2014).
-
(2014)
PLoS Genet
, vol.10
, pp. e1004294
-
-
Loomis, E.W.1
Sanz, L.A.2
Chedin, F.3
Hagerman, P.J.4
|