-
1
-
-
84882482724
-
-
InWells, R.D. and Ashizawa, T. (eds), Genetic Instabilities and Neurological Diseases. Elsevier-Academic Press, San Diego, CA, pp. 277-296.
-
Pandolfo, M. (2006) InWells, R.D. and Ashizawa, T. (eds), Genetic Instabilities and Neurological Diseases. Elsevier-Academic Press, San Diego, CA, pp. 277-296.
-
(2006)
-
-
Pandolfo, M.1
-
2
-
-
13344270899
-
Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion
-
Campuzano, V., Montermini, L., Molto, M.D., Pianese, L., Cossee, M., Cavalcanti, F., Monros, E., Rodius, F., Duclos, F., Monticelli, A. et al. (1996) Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science, 271, 1423-1427.
-
(1996)
Science
, vol.271
, pp. 1423-1427
-
-
Campuzano, V.1
Montermini, L.2
Molto, M.D.3
Pianese, L.4
Cossee, M.5
Cavalcanti, F.6
Monros, E.7
Rodius, F.8
Duclos, F.9
Monticelli, A.10
-
3
-
-
8544240144
-
The Friedreich ataxia GAA triplet repeatpremutation and normal alleles
-
Montermini, L., Andermann, E., Labuda, M., Richter, A., Pandolfo, M., Cavalcanti, F., Pianese, L., Iodice, L., Farina, G., Monticelli, A. et al. (1997) The Friedreich ataxia GAA triplet repeatpremutation and normal alleles. Hum. Mol. Genet., 6, 1261- 1266.
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 1261- 1266
-
-
Montermini, L.1
Andermann, E.2
Labuda, M.3
Richter, A.4
Pandolfo, M.5
Cavalcanti, F.6
Pianese, L.7
Iodice, L.8
Farina, G.9
Monticelli, A.10
-
4
-
-
35449008450
-
Frataxin is essential for extramitochondrial Fe-S cluster proteins in mammalian tissues
-
Martelli, A., Wattenhofer-Donze, M., Schmucker, S., Bouvet, S., Reutenauer, L. and Puccio, H. (2007) Frataxin is essential for extramitochondrial Fe-S cluster proteins in mammalian tissues. Hum. Mol. Genet., 16, 2651-2658.
-
(2007)
Hum. Mol. Genet.
, vol.16
, pp. 2651-2658
-
-
Martelli, A.1
Wattenhofer-Donze, M.2
Schmucker, S.3
Bouvet, S.4
Reutenauer, L.5
Puccio, H.6
-
5
-
-
3042763187
-
Frataxin acts as an iron chaperone protein to modulate mitochondrial aconitase activity
-
Bulteau, A.L., O'Neill, H.A., Kennedy, M.C., Ikeda-Saito, M., Isaya, G. and Szweda, L.I. (2004) Frataxin acts as an iron chaperone protein to modulate mitochondrial aconitase activity. Science, 305, 242-245.
-
(2004)
Science
, vol.305
, pp. 242-245
-
-
Bulteau, A.L.1
O'Neill, H.A.2
Kennedy, M.C.3
Ikeda-Saito, M.4
Isaya, G.5
Szweda, L.I.6
-
6
-
-
31544445770
-
Mitochondrial iron detoxification is a primary function of frataxin that limits oxidative damage and preserves cell longevity
-
Gakh, O., Park, S., Liu, G., Macomber, L., Imlay, J.A., Ferreira, G. C. and Isaya, G. (2006) Mitochondrial iron detoxification is a primary function of frataxin that limits oxidative damage and preserves cell longevity. Hum. Mol. Genet., 15, 467-479.
-
(2006)
Hum. Mol. Genet.
, vol.15
, pp. 467-479
-
-
Gakh, O.1
Park, S.2
Liu, G.3
Macomber, L.4
Imlay, J.A.5
Ferreira, G.C.6
Isaya, G.7
-
7
-
-
0029821176
-
Clinical and genetic abnormalities in patients with Friedreich's ataxia
-
Durr, A., Cossee, M., Agid, Y., Campuzano, V., Mignard, C., Penet, C., Mandel, J.L., Brice, A. and Koenig, M. (1996) Clinical and genetic abnormalities in patients with Friedreich's ataxia. N. Engl. J. Med., 335, 1169-1175.
-
(1996)
N. Engl. J. Med.
, vol.335
, pp. 1169-1175
-
-
Durr, A.1
Cossee, M.2
Agid, Y.3
Campuzano, V.4
Mignard, C.5
Penet, C.6
Mandel, J.L.7
Brice, A.8
Koenig, M.9
-
8
-
-
0029757676
-
The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia
-
Filla, A., De Michele, G., Cavalcanti, F., Pianese, L., Monticelli, A., Campanella, G. and Cocozza, S. (1996) The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia. Am. J. Hum. Genet., 59, 554-560.
-
(1996)
Am. J. Hum. Genet.
, vol.59
, pp. 554-560
-
-
Filla, A.1
De Michele, G.2
Cavalcanti, F.3
Pianese, L.4
Monticelli, A.5
Campanella, G.6
Cocozza, S.7
-
9
-
-
33748778745
-
Histone deacetylase inhibitors reverse gene silencing in Friedreich's ataxia
-
Herman, D., Jenssen, K., Burnett, R., Soragni, E., Perlman, S.L. and Gottesfeld, J.M. (2006) Histone deacetylase inhibitors reverse gene silencing in Friedreich's ataxia. Nat. Chem. Biol., 2, 551-558.
-
(2006)
Nat. Chem. Biol.
, vol.2
, pp. 551-558
-
-
Herman, D.1
Jenssen, K.2
Burnett, R.3
Soragni, E.4
Perlman, S.L.5
Gottesfeld, J.M.6
-
10
-
-
56049103058
-
Long intronic GAA*TTC repeats induce epigenetic changes and reporter gene silencing in a molecular model of Friedreich ataxia
-
Soragni, E., Herman, D., Dent, S.Y., Gottesfeld, J.M., Wells, R.D. and Napierala, M. (2008) Long intronic GAA*TTC repeats induce epigenetic changes and reporter gene silencing in a molecular model of Friedreich ataxia. Nucl. Acids Res., 36, 6056- 6065.
-
(2008)
Nucl. Acids Res.
, vol.36
, pp. 6056- 6065
-
-
Soragni, E.1
Herman, D.2
Dent, S.Y.3
Gottesfeld, J.M.4
Wells, R.D.5
Napierala, M.6
-
11
-
-
33748949561
-
Miuraenamides A and B, novel antimicrobial cyclic depsipeptides from a new slightly halophilic myxobacterium: taxonomy, production, and biological properties
-
Iizuka, T., Fudou, R., Jojima, Y., Ogawa, S., Yamanaka, S., Inukai, Y. and Ojika, M. (2006) Miuraenamides A and B, novel antimicrobial cyclic depsipeptides from a new slightly halophilic myxobacterium: taxonomy, production, and biological properties. J. Antibiot. (Tokyo), 59, 385-391.
-
(2006)
J. Antibiot. (Tokyo)
, vol.59
, pp. 385-391
-
-
Iizuka, T.1
Fudou, R.2
Jojima, Y.3
Ogawa, S.4
Yamanaka, S.5
Inukai, Y.6
Ojika, M.7
-
12
-
-
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. and Usdin, K. (2007) Repeat-induced epigenetic changes in intron 1 of the frataxin gene and its consequences in Friedreich ataxia. Nucl. Acids Res., 35, 3383-3390.
-
(2007)
Nucl. Acids Res.
, vol.35
, pp. 3383-3390
-
-
Greene, E.1
Mahishi, L.2
Entezam, A.3
Kumari, D.4
Usdin, K.5
-
13
-
-
39749136603
-
The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues
-
Al-Mahdawi, S., Pinto, R.M., Ismail, O., Varshney, D., Lymperi, S., Sandi, C., Trabzuni, D. and Pook, M. (2008) 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)
Hum. Mol. Genet.
, vol.17
, pp. 735-746
-
-
Al-Mahdawi, S.1
Pinto, R.M.2
Ismail, O.3
Varshney, D.4
Lymperi, S.5
Sandi, C.6
Trabzuni, D.7
Pook, M.8
-
14
-
-
33745818561
-
Esg1, expressed exclusively in preimplantation embryos, germline, and embryonic stem cells, is a putative RNA-binding protein with broad RNA targets
-
Tanaka, T.S., Lopez de Silanes, I., Sharova, L.V., Akutsu, H., Yoshikawa, T., Amano, H., Yamanaka, S., Gorospe, M. and Ko, M.S. (2006) Esg1, expressed exclusively in preimplantation embryos, germline, and embryonic stem cells, is a putative RNA-binding protein with broad RNA targets. Dev. Growth Differ., 48, 381-390.
-
(2006)
Dev. Growth Differ.
, vol.48
, pp. 381-390
-
-
Tanaka, T.S.1
Lopez de Silanes, I.2
Sharova, L.V.3
Akutsu, H.4
Yoshikawa, T.5
Amano, H.6
Yamanaka, S.7
Gorospe, M.8
Ko, M.S.9
-
15
-
-
69249153489
-
Smad, PI3 K/ Akt, and Wnt-dependent signaling pathways are involved in BMP-4-induced ESC self-renewal
-
Lee, M.Y., Lim, H.W., Lee, S.H. and Han, H.J. (2009) Smad, PI3 K/ Akt, and Wnt-dependent signaling pathways are involved in BMP-4-induced ESC self-renewal. Stem Cells, 27, 1858-1868.
-
(2009)
Stem Cells
, vol.27
, pp. 1858-1868
-
-
Lee, M.Y.1
Lim, H.W.2
Lee, S.H.3
Han, H.J.4
-
16
-
-
73449084162
-
Progressive GAA.TTC repeat expansion in human cell lines
-
Ditch, S., Sammarco, M.C., Banerjee, A. and Grabczyk, E. (2009) Progressive GAA.TTC repeat expansion in human cell lines. PLoS Genet., 5, e1000704.
-
(2009)
PLoS Genet.
, vol.5
, pp. e1000704
-
-
Ditch, S.1
Sammarco, M.C.2
Banerjee, A.3
Grabczyk, E.4
-
17
-
-
33748796912
-
Rational selection of small molecules that increase transcription through the GAA repeats found in Friedreich's ataxia
-
Grant, L., Sun, J., Xu, H., Subramony, S.H., Chaires, J.B. and Hebert, M.D. (2006) Rational selection of small molecules that increase transcription through the GAA repeats found in Friedreich's ataxia. FEBS Lett., 580, 5399-5405.
-
(2006)
FEBS Lett.
, vol.580
, pp. 5399-5405
-
-
Grant, L.1
Sun, J.2
Xu, H.3
Subramony, S.H.4
Chaires, J.B.5
Hebert, M.D.6
-
18
-
-
18244408334
-
Frataxin knockin mouse
-
Miranda, C.J., Santos, M.M., Ohshima, K., Smith, J., Li, L., Bunting, M., Cossee, M., Koenig, M., Sequeiros, J., Kaplan, J. et al. (2002) Frataxin knockin mouse. FEBS Lett., 512, 291-297.
-
(2002)
FEBS Lett.
, vol.512
, pp. 291-297
-
-
Miranda, C.J.1
Santos, M.M.2
Ohshima, K.3
Smith, J.4
Li, L.5
Bunting, M.6
Cossee, M.7
Koenig, M.8
Sequeiros, J.9
Kaplan, J.10
-
19
-
-
33748805480
-
Spreading of silent chromatin: inaction at a distance
-
Talbert, P.B. and Henikoff, S. (2006) Spreading of silent chromatin: inaction at a distance. Nat. Rev. Genet., 7, 793-803.
-
(2006)
Nat. Rev. Genet.
, vol.7
, pp. 793-803
-
-
Talbert, P.B.1
Henikoff, S.2
-
20
-
-
84937042919
-
Characterization and dynamics of pericentromere- associated domains in mice
-
Wijchers, P.J., Geeven, G., Eyres, M., Bergsma, A.J., Janssen, M., Verstegen, M., Zhu, Y., Schell, Y., Vermeulen, C., de Wit, E. et al. (2015) Characterization and dynamics of pericentromere- associated domains in mice. Genome Res., 25, 958-969.
-
(2015)
Genome Res.
, vol.25
, pp. 958-969
-
-
Wijchers, P.J.1
Geeven, G.2
Eyres, M.3
Bergsma, A.J.4
Janssen, M.5
Verstegen, M.6
Zhu, Y.7
Schell, Y.8
Vermeulen, C.9
de Wit, E.10
-
21
-
-
84912000728
-
Chromosome boundary elements and regulation of heterochromatin spreading
-
Wang, J., Lawry, S.T., Cohen, A.L. and Jia, S. (2014) Chromosome boundary elements and regulation of heterochromatin spreading. Cell Mol. Life Sci., 71, 4841-4852.
-
(2014)
Cell Mol. Life Sci.
, vol.71
, pp. 4841-4852
-
-
Wang, J.1
Lawry, S.T.2
Cohen, A.L.3
Jia, S.4
-
22
-
-
84901710848
-
Altered nucleosome positioning at the transcription start site and deficient transcriptional initiation in Friedreich ataxia
-
Chutake, Y.K., Costello, W.N., Lam, C. and Bidichandani, S.I. (2014) Altered nucleosome positioning at the transcription start site and deficient transcriptional initiation in Friedreich ataxia. J. Biol. Chem., 289, 15194-15202.
-
(2014)
J. Biol. Chem.
, vol.289
, pp. 15194-15202
-
-
Chutake, Y.K.1
Costello, W.N.2
Lam, C.3
Bidichandani, S.I.4
-
23
-
-
77953659252
-
Long intronic GAA repeats causing Friedreich ataxia impede transcription elongation
-
Punga, T. and Buhler, M. (2010) Long intronic GAA repeats causing Friedreich ataxia impede transcription elongation. EMBO Mol. Med., 2, 120-129.
-
(2010)
EMBO Mol. Med.
, vol.2
, pp. 120-129
-
-
Punga, T.1
Buhler, M.2
-
24
-
-
80455149647
-
Hyperexpansion of GAA repeats affects post-initiation steps of FXN transcription in Friedreich's ataxia
-
Kim, E., Napierala, M. and Dent, S.Y. (2011) Hyperexpansion of GAA repeats affects post-initiation steps of FXN transcription in Friedreich's ataxia. Nucl. Acids Res., 39, 8366-8377.
-
(2011)
Nucl. Acids Res.
, vol.39
, pp. 8366-8377
-
-
Kim, E.1
Napierala, M.2
Dent, S.Y.3
-
25
-
-
84880323204
-
Cis-silencing of PIP5K1B evidenced in Friedreich's ataxia patient cells results in cytoskeleton anomalies
-
Bayot, A., Reichman, S., Lebon, S., Csaba, Z., Aubry, L., Sterkers, G., Husson, I., Rak, M. and Rustin, P. (2013) Cis-silencing of PIP5K1B evidenced in Friedreich's ataxia patient cells results in cytoskeleton anomalies. Hum. Mol. Genet., 22, 2894-2904.
-
(2013)
Hum. Mol. Genet.
, vol.22
, pp. 2894-2904
-
-
Bayot, A.1
Reichman, S.2
Lebon, S.3
Csaba, Z.4
Aubry, L.5
Sterkers, G.6
Husson, I.7
Rak, M.8
Rustin, P.9
-
26
-
-
84886650601
-
Friedreich's ataxia, frataxin, PIP5K1B: echo of a distant fracas
-
Bayot, A. and Rustin, P. (2013) Friedreich's ataxia, frataxin, PIP5K1B: echo of a distant fracas. Oxid. Med. Cell. Longev., 2013, 725635.
-
(2013)
Oxid. Med. Cell. Longev.
, vol.2013
, pp. 725635
-
-
Bayot, A.1
Rustin, P.2
-
27
-
-
84904966590
-
Therapeutic approaches for the treatment of Friedreich's ataxia
-
Strawser, C.J., Schadt, K.A. and Lynch, D.R. (2014) Therapeutic approaches for the treatment of Friedreich's ataxia. Expert Rev. Neurother., 14, 949-957.
-
(2014)
Expert Rev. Neurother.
, vol.14
, pp. 949-957
-
-
Strawser, C.J.1
Schadt, K.A.2
Lynch, D.R.3
-
28
-
-
79952945160
-
Detection of interruptions in the GAA trinucleotide repeat expansion in the FXN gene of Friedreich ataxia
-
Holloway, T.P., Rowley, S.M., Delatycki, M.B. and Sarsero, J.P. (2011) Detection of interruptions in the GAA trinucleotide repeat expansion in the FXN gene of Friedreich ataxia. Biotechniques, 50, 182-186.
-
(2011)
Biotechniques
, vol.50
, pp. 182-186
-
-
Holloway, T.P.1
Rowley, S.M.2
Delatycki, M.B.3
Sarsero, J.P.4
-
29
-
-
79952592026
-
A combined nucleic acid and protein analysis in Friedreich ataxia: implications for diagnosis, pathogenesis and clinical trial design
-
Sacca, F., Puorro, G., Antenora, A., Marsili, A., Denaro, A., Piro, R., Sorrentino, P., Pane, C., Tessa, A., Brescia Morra, V. et al. (2011) A combined nucleic acid and protein analysis in Friedreich ataxia: implications for diagnosis, pathogenesis and clinical trial design. PLoS One, 6, e17627.
-
(2011)
PLoS One
, vol.6
, pp. e17627
-
-
Sacca, F.1
Puorro, G.2
Antenora, A.3
Marsili, A.4
Denaro, A.5
Piro, R.6
Sorrentino, P.7
Pane, C.8
Tessa, A.9
Brescia Morra, V.10
-
30
-
-
33846815260
-
Progressive GAA expansions in dorsal root ganglia of Friedreich's ataxia patients
-
De Biase, I., Rasmussen, A., Endres, D., Al-Mahdawi, S., Monticelli, A., Cocozza, S., Pook, M. and Bidichandani, S.I. (2007) Progressive GAA expansions in dorsal root ganglia of Friedreich's ataxia patients. Ann. Neurol., 61, 55-60.
-
(2007)
Ann. Neurol.
, vol.61
, pp. 55-60
-
-
De Biase, I.1
Rasmussen, A.2
Endres, D.3
Al-Mahdawi, S.4
Monticelli, A.5
Cocozza, S.6
Pook, M.7
Bidichandani, S.I.8
-
31
-
-
84855989774
-
Fast computation and applications of genome mappability
-
Derrien, T., Estelle, J., Marco Sola, S., Knowles, D.G., Raineri, E., Guigo, R. and Ribeca, P. (2012) Fast computation and applications of genome mappability. PLoS One, 7, e30377.
-
(2012)
PLoS One
, vol.7
, pp. e30377
-
-
Derrien, T.1
Estelle, J.2
Marco Sola, S.3
Knowles, D.G.4
Raineri, E.5
Guigo, R.6
Ribeca, P.7
-
32
-
-
77955079666
-
Genomic duplication and overexpression of TJP2/ZO-2 leads to altered expression of apoptosis genes in progressive nonsyndromic hearing loss DFNA51
-
Walsh, T., Pierce, S.B., Lenz, D.R., Brownstein, Z., Dagan- Rosenfeld, O., Shahin, H., Roeb, W., McCarthy, S., Nord, A.S., Gordon, C.R. et al. (2010) Genomic duplication and overexpression of TJP2/ZO-2 leads to altered expression of apoptosis genes in progressive nonsyndromic hearing loss DFNA51. Am. J. Hum. Genet., 87, 101-109.
-
(2010)
Am. J. Hum. Genet.
, vol.87
, pp. 101-109
-
-
Walsh, T.1
Pierce, S.B.2
Lenz, D.R.3
Brownstein, Z.4
Dagan-Rosenfeld, O.5
Shahin, H.6
Roeb, W.7
McCarthy, S.8
Nord, A.S.9
Gordon, C.R.10
-
33
-
-
78049512763
-
Friedreich's ataxia induced pluripotent stem cells model intergenerational GAATTC triplet repeat instability
-
Ku, S., Soragni, E., Campau, E., Thomas, E.A., Altun, G., Laurent, L.C., Loring, J.F., Napierala, M. and Gottesfeld, J.M. (2010) Friedreich's ataxia induced pluripotent stem cells model intergenerational GAATTC triplet repeat instability. Cell Stem Cell, 7, 631-637.
-
(2010)
Cell Stem Cell
, vol.7
, pp. 631-637
-
-
Ku, S.1
Soragni, E.2
Campau, E.3
Thomas, E.A.4
Altun, G.5
Laurent, L.C.6
Loring, J.F.7
Napierala, M.8
Gottesfeld, J.M.9
-
34
-
-
0034660695
-
The GAA.TTC triplet repeat expanded in Friedreich's ataxia impedes transcription elongation by T7 RNA polymerase in a length and supercoil dependent manner
-
Grabczyk, E. and Usdin, K. (2000) The GAA.TTC triplet repeat expanded in Friedreich's ataxia impedes transcription elongation by T7 RNA polymerase in a length and supercoil dependent manner. Nucl. Acids Res., 28, 2815-2822.
-
(2000)
Nucl. Acids Res.
, vol.28
, pp. 2815-2822
-
-
Grabczyk, E.1
Usdin, K.2
-
35
-
-
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. and Pandolfo, M. (1998) Inhibitory effects of expanded GAAA·TTC triplet repeats from intron I of the Friedreich ataxia gene on transcription and replication in vivo. J. Biol. Chem., 275, 14588-14595.
-
(1998)
J. Biol. Chem.
, vol.275
, pp. 14588-14595
-
-
Ohshima, K.1
Montermini, L.2
Wells, R.D.3
Pandolfo, M.4
-
36
-
-
84899796207
-
Genome-wide dynamics of Pol II elongation and its interplay with promoter proximal pausing, chromatin, and exons
-
Jonkers, I., Kwak, H. and Lis, J.T. (2014) Genome-wide dynamics of Pol II elongation and its interplay with promoter proximal pausing, chromatin, and exons. eLife, 3, e02407.
-
(2014)
eLife
, vol.3
, pp. e02407
-
-
Jonkers, I.1
Kwak, H.2
Lis, J.T.3
-
37
-
-
84923780299
-
Getting up to speed with transcription elongation by RNA polymerase II
-
Jonkers, I. and Lis, J.T. (2015) Getting up to speed with transcription elongation by RNA polymerase II. Nat. Rev. Mol. Cell. Biol., 16, 167-177.
-
(2015)
Nat. Rev. Mol. Cell. Biol.
, vol.16
, pp. 167-177
-
-
Jonkers, I.1
Lis, J.T.2
-
38
-
-
84901855485
-
Rate of elongation by RNA polymerase II is associated with specific gene features and epigenetic modifications
-
Veloso, A., Kirkconnell, K.S., Magnuson, B., Biewen, B., Paulsen, M.T., Wilson, T.E. and Ljungman, M. (2014) Rate of elongation by RNA polymerase II is associated with specific gene features and epigenetic modifications. Genome Res., 24, 896-905.
-
(2014)
Genome Res.
, vol.24
, pp. 896-905
-
-
Veloso, A.1
Kirkconnell, K.S.2
Magnuson, B.3
Biewen, B.4
Paulsen, M.T.5
Wilson, T.E.6
Ljungman, M.7
-
39
-
-
70949099119
-
Epigenetic silencing in Friedreich ataxia is associated with depletion of CTCF (CCCTC-binding factor) and antisense transcription
-
De Biase, I., Chutake, Y.K., Rindler, P.M. and Bidichandani, S.I. (2009) Epigenetic silencing in Friedreich ataxia is associated with depletion of CTCF (CCCTC-binding factor) and antisense transcription. PLoS One, 4, e7914.
-
(2009)
PLoS One
, vol.4
, pp. e7914
-
-
De Biase, I.1
Chutake, Y.K.2
Rindler, P.M.3
Bidichandani, S.I.4
-
40
-
-
0035920101
-
Sticky DNA, a self-associated complex formed at long GAA.TTC repeats in intron 1 of the Frataxin gene, inhibits transcription
-
Sakamoto, N., Ohshima, K., Montermini, L., Pandolfo, M. and Wells, R.D. (2001) Sticky DNA, a self-associated complex formed at long GAA.TTC repeats in intron 1 of the Frataxin gene, inhibits transcription. J. Biol. Chem., 276, 27171-27177.
-
(2001)
J. Biol. Chem.
, vol.276
, pp. 27171-27177
-
-
Sakamoto, N.1
Ohshima, K.2
Montermini, L.3
Pandolfo, M.4
Wells, R.D.5
-
41
-
-
84901626668
-
R-loops associated with triplet repeat expansions promote gene silencing in Friedreich ataxia and fragile X syndrome
-
Groh, M., Lufino, M.M., Wade-Martins, R. and Gromak, N. (2014) R-loops associated with triplet repeat expansions promote gene silencing in Friedreich ataxia and fragile X syndrome. PLoS Genet., 10, e1004318.
-
(2014)
PLoS Genet.
, vol.10
, pp. e1004318
-
-
Groh, M.1
Lufino, M.M.2
Wade-Martins, R.3
Gromak, N.4
-
42
-
-
34548775695
-
A persistent RNA.DNA hybrid formed by transcription of the Friedreich ataxia triplet repeat in live bacteria, and by T7 RNAP in vitro
-
Grabczyk, E., Mancuso, M. and Sammarco, M.C. (2007) A persistent RNA.DNA hybrid formed by transcription of the Friedreich ataxia triplet repeat in live bacteria, and by T7 RNAP in vitro. Nucl. Acids Res., 35, 5351-5359.
-
(2007)
Nucl. Acids Res.
, vol.35
, pp. 5351-5359
-
-
Grabczyk, E.1
Mancuso, M.2
Sammarco, M.C.3
-
43
-
-
78649381794
-
New insights into repeat instability: role of RNA*DNA hybrids
-
McIvor, E.I., Polak, U. and Napierala, M. (2010) New insights into repeat instability: role of RNA*DNA hybrids. RNA Biol., 7, 551-558.
-
(2010)
RNA Biol.
, vol.7
, pp. 551-558
-
-
McIvor, E.I.1
Polak, U.2
Napierala, M.3
-
44
-
-
34047182059
-
Effects of Friedreich's ataxia (GAA)n*(TTC)n repeats on RNA synthesis and stability
-
Krasilnikova, M.M., Kireeva, M.L., Petrovic, V., Knijnikova, N., Kashlev, M. and Mirkin, S.M. (2007) Effects of Friedreich's ataxia (GAA)n*(TTC)n repeats on RNA synthesis and stability. Nucl. Acids Res., 35, 1075-1084.
-
(2007)
Nucl. Acids Res.
, vol.35
, pp. 1075-1084
-
-
Krasilnikova, M.M.1
Kireeva, M.L.2
Petrovic, V.3
Knijnikova, N.4
Kashlev, M.5
Mirkin, S.M.6
-
45
-
-
84874992775
-
Inhibition of DNA synthesis facilitates expansion of low-complexity repeats: is strand slippage stimulated by transient local depletion of specific dNTPs?
-
Kuzminov, A. (2013) Inhibition of DNA synthesis facilitates expansion of low-complexity repeats: is strand slippage stimulated by transient local depletion of specific dNTPs? Bioessays, 35, 306-313.
-
(2013)
Bioessays
, vol.35
, pp. 306-313
-
-
Kuzminov, A.1
-
46
-
-
84862673628
-
RNA polymerase backtracking in gene regulation and genome instability
-
Nudler, E. (2012) RNA polymerase backtracking in gene regulation and genome instability. Cell, 149, 1438-1445.
-
(2012)
Cell
, vol.149
, pp. 1438-1445
-
-
Nudler, E.1
-
47
-
-
67651095903
-
Stability, flexibility, and dynamic interactions of colliding RNA polymerase II elongation complexes
-
Saeki, H. and Svejstrup, J.Q. (2009) Stability, flexibility, and dynamic interactions of colliding RNA polymerase II elongation complexes. Mol. Cell, 35, 191-205.
-
(2009)
Mol. Cell
, vol.35
, pp. 191-205
-
-
Saeki, H.1
Svejstrup, J.Q.2
-
48
-
-
84941798017
-
Friedreich's ataxia-a case of aberrant transcription termination?
-
Butler, J.S. and Napierala, M. (2015) Friedreich's ataxia-a case of aberrant transcription termination? Transcription, 6, 33-36.
-
(2015)
Transcription
, vol.6
, pp. 33-36
-
-
Butler, J.S.1
Napierala, M.2
-
49
-
-
84907815534
-
Epigenetic therapy for Friedreich ataxia
-
Soragni, E., Miao, W., Iudicello, M., Jacoby, D., De Mercanti, S., Clerico, M., Longo, F., Piga, A., Ku, S., Campau, E. et al. (2014) Epigenetic therapy for Friedreich ataxia. Ann. Neurol., 76, 489-508.
-
(2014)
Ann. Neurol.
, vol.76
, pp. 489-508
-
-
Soragni, E.1
Miao, W.2
Iudicello, M.3
Jacoby, D.4
De Mercanti, S.5
Clerico, M.6
Longo, F.7
Piga, A.8
Ku, S.9
Campau, E.10
-
50
-
-
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., Yandim, C., Athanasopoulos, S., Loyse, N., Natisvili, T., Law, P.P., Chan, P.K., Mohammad, T., Mauri, M., Tam, K.T. et al. (2014) 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)
Lancet
, vol.384
, pp. 504-513
-
-
Libri, V.1
Yandim, C.2
Athanasopoulos, S.3
Loyse, N.4
Natisvili, T.5
Law, P.P.6
Chan, P.K.7
Mohammad, T.8
Mauri, M.9
Tam, K.T.10
-
51
-
-
84930180094
-
Excision of expanded GAA repeats alleviates the molecular phenotype of Friedreich's ataxia
-
Li, Y., Polak, U., Bhalla, A.D., Rozwadowska, N., Butler, J.S., Lynch, D.R., Dent, S.Y. and Napierala, M. (2015) Excision of expanded GAA repeats alleviates the molecular phenotype of Friedreich's ataxia. Mol. Ther., 23, 1055-1065.
-
(2015)
Mol. Ther.
, vol.23
, pp. 1055-1065
-
-
Li, Y.1
Polak, U.2
Bhalla, A.D.3
Rozwadowska, N.4
Butler, J.S.5
Lynch, D.R.6
Dent, S.Y.7
Napierala, M.8
-
52
-
-
84876996918
-
TopHat2: accurate alignment of transcriptomes in the presence of insertions, deletions and gene fusions
-
Kim, D., Pertea, G., Trapnell, C., Pimentel, H., Kelley, R. and Salzberg, S.L. (2013) TopHat2: accurate alignment of transcriptomes in the presence of insertions, deletions and gene fusions. Genome Biol., 14, R36.
-
(2013)
Genome Biol.
, vol.14
, pp. R36
-
-
Kim, D.1
Pertea, G.2
Trapnell, C.3
Pimentel, H.4
Kelley, R.5
Salzberg, S.L.6
-
53
-
-
84859210032
-
Fast gapped-read alignment with Bowtie 2
-
Langmead, B. and Salzberg, S.L. (2012) Fast gapped-read alignment with Bowtie 2. Nat. Methods, 9, 357-359.
-
(2012)
Nat. Methods
, vol.9
, pp. 357-359
-
-
Langmead, B.1
Salzberg, S.L.2
-
54
-
-
84891767394
-
RefSeq: an update on mammalian reference sequences
-
Pruitt, K.D., Brown, G.R., Hiatt, S.M., Thibaud-Nissen, F., Astashyn, A., Ermolaeva, O., Farrell, C.M., Hart, J., Landrum, M.J., McGarvey, K.M. et al. (2014) RefSeq: an update on mammalian reference sequences. Nucl. Acids Res., 42, D756-D763.
-
(2014)
Nucl. Acids Res.
, vol.42
, pp. D756-D763
-
-
Pruitt, K.D.1
Brown, G.R.2
Hiatt, S.M.3
Thibaud-Nissen, F.4
Astashyn, A.5
Ermolaeva, O.6
Farrell, C.M.7
Hart, J.8
Landrum, M.J.9
McGarvey, K.M.10
-
55
-
-
77958471357
-
Differential expression analysis for sequence count data
-
Anders, S. and Huber, W. (2010) Differential expression analysis for sequence count data. Genome Biol., 11, R106.
-
(2010)
Genome Biol.
, vol.11
, pp. R106
-
-
Anders, S.1
Huber, W.2
|