-
1
-
-
84885679000
-
Lysosomal storage diseases - The horizon expands
-
PMID: 23938739
-
Boustany RM (2013) Lysosomal storage diseases - the horizon expands. Nat Rev Neurol 9:583-598. doi: 10.1038/nrneurol.2013.163 PMID: 23938739
-
(2013)
Nat Rev Neurol
, vol.9
, pp. 583-598
-
-
Boustany, R.M.1
-
2
-
-
84867328079
-
Pharmaceutical therapies to recode nonsense mutations in inherited diseases
-
PMID: 22820013
-
Lee HL, Dougherty JP (2012) Pharmaceutical therapies to recode nonsense mutations in inherited diseases. Pharmacol Ther 136:227-266. doi: 10.1016/j.pharmthera.2012.07.007 PMID: 22820013
-
(2012)
Pharmacol Ther
, vol.136
, pp. 227-266
-
-
Lee, H.L.1
Dougherty, J.P.2
-
3
-
-
84904269218
-
Therapeutics based on stop codon readthrough
-
PMID: 24773318
-
Keeling KM, Xue X, Gunn G, Bedwell DM (2014) Therapeutics based on stop codon readthrough. Annu Rev Genomics Hum Genet 15: 371-394. doi: 10.1146/annurev-genom-091212-153527 PMID: 24773318
-
(2014)
Annu Rev Genomics Hum Genet
, vol.15
, pp. 371-394
-
-
Keeling, K.M.1
Xue, X.2
Gunn, G.3
Bedwell, D.M.4
-
4
-
-
0000869162
-
The mucopolysaccharidoses
-
Scriver CR, Beaudet AL, Sly WS, Valle D, eds. New York: McGraw- Hill
-
Neufeld EF, Muenzer J (2001) The mucopolysaccharidoses. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic and molecular bases of inherited disease, 8th edn, Vol. 3. New York: McGraw- Hill: 3421-3452.
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease, 8th Edn
, vol.3
, pp. 3421-3452
-
-
Neufeld, E.F.1
Muenzer, J.2
-
5
-
-
33749024739
-
Identification of the gene encoding the enzyme deficient in mucopolysaccharidosis IIIC (Sanfilippo disease type C)
-
PMID: 16960811
-
Fan X, Zhang H, Zhang S, Bagshaw RD, Tropak MB, Callahan JW, et al. (2006) Identification of the gene encoding the enzyme deficient in mucopolysaccharidosis IIIC (Sanfilippo disease type C). Am J Hum Genet 79:738-744. PMID: 16960811
-
(2006)
Am J Hum Genet
, vol.79
, pp. 738-744
-
-
Fan, X.1
Zhang, H.2
Zhang, S.3
Bagshaw, R.D.4
Tropak, M.B.5
Callahan, J.W.6
-
6
-
-
33751117228
-
Mutations in TMEM76∗ cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome)
-
PMID: 17033958
-
Hrebicek M, Mrazova L, Seyrantepe V, Durand S, Roslin NM, Nosková L, et al. (2006) Mutations in TMEM76∗ cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Am J Hum Genet 79:807-819. PMID: 17033958
-
(2006)
Am J Hum Genet
, vol.79
, pp. 807-819
-
-
Hrebicek, M.1
Mrazova, L.2
Seyrantepe, V.3
Durand, S.4
Roslin, N.M.5
Nosková, L.6
-
7
-
-
0018214687
-
Sanfilippo syndrome type C: Deficiency of acetyl-CoA:alpha-glucosaminide N-acetyltransferase in skin fibroblasts
-
PMID: 33384
-
Klein U, Kresse H, von Figura K (1978) Sanfilippo syndrome type C: deficiency of acetyl-CoA:alpha-glucosaminide N-acetyltransferase in skin fibroblasts. Proc Natl Acad Sci U S A 75:5185-5189. PMID: 33384
-
(1978)
Proc Natl Acad Sci U S A
, vol.75
, pp. 5185-5189
-
-
Klein, U.1
Kresse, H.2
Von Figura, K.3
-
8
-
-
0001745899
-
Niemann-Pick disease types A and B: Acid sphingomyelinase deficiencies
-
Scriver CR, Beaudet AL, Sly WS, Valle D, eds. New York: McGraw-Hill
-
Schuchman EH and Desnick RJ (2001) Niemann-Pick disease types A and B: acid sphingomyelinase deficiencies. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic and molecular bases of inherited disease, 8th edn, Vol. 3. New York: McGraw-Hill: 3589-3610.
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease, 8th Edn
, vol.3
, pp. 3589-3610
-
-
Schuchman, E.H.1
Desnick, R.J.2
-
9
-
-
84857467135
-
SMRT compounds correct nonsense mutations in primary immunodeficiency and other genetic models
-
PMID: 22364446
-
Gatti RA (2012) SMRT compounds correct nonsense mutations in primary immunodeficiency and other genetic models. Ann N Y Acad Sci 1250:33-40. doi: 10.1111/j.1749-6632.2012.06467.x PMID: 22364446
-
(2012)
Ann N Y Acad Sci
, vol.1250
, pp. 33-40
-
-
Gatti, R.A.1
-
10
-
-
0029994529
-
Aminoglycoside antibiotics restore CFTR function by overcoming premature stop mutations
-
PMID: 8597960
-
Howard M, Frizzell RA, Bedwell DM (1996) Aminoglycoside antibiotics restore CFTR function by overcoming premature stop mutations. Nat Med 2:467-469. PMID: 8597960
-
(1996)
Nat Med
, vol.2
, pp. 467-469
-
-
Howard, M.1
Frizzell, R.A.2
Bedwell, D.M.3
-
11
-
-
0032720705
-
Aminoglycoside antibiotics restore dystrophin function to skeletal muscles of mdx mice
-
PMID: 10449429
-
Barton-Davis ER, Cordier L, Shoturma DI, Leland SE, Sweeney HL (1999) Aminoglycoside antibiotics restore dystrophin function to skeletal muscles of mdx mice. J Clin Invest 104:375-381. PMID: 10449429
-
(1999)
J Clin Invest
, vol.104
, pp. 375-381
-
-
Barton-Davis, E.R.1
Cordier, L.2
Shoturma, D.I.3
Leland, S.E.4
Sweeney, H.L.5
-
12
-
-
77953133544
-
Repairing faulty genes by aminoglycosides: Development of new derivatives of geneticin (G418) with enhanced suppression of diseases-causing nonsense mutations
-
PMID: 20409719
-
Nudelman I, Glikin D, Smolkin B, Hainrichson M, Belakhov V, Baasov T (2010) Repairing faulty genes by aminoglycosides: development of new derivatives of geneticin (G418) with enhanced suppression of diseases-causing nonsense mutations. Bioorg Med Chem 18:3735-3746. doi: 10.1016/j.bmc.2010.03.060 PMID: 20409719
-
(2010)
Bioorg Med Chem
, vol.18
, pp. 3735-3746
-
-
Nudelman, I.1
Glikin, D.2
Smolkin, B.3
Hainrichson, M.4
Belakhov, V.5
Baasov, T.6
-
13
-
-
84868199631
-
Sense from nonsense: Therapies for premature stop codon diseases
-
PMID: 23083810
-
Bidou L, Allamand V, Rousset JP, Namy O (2012) Sense from nonsense: therapies for premature stop codon diseases. Trends Mol Med 18:679-688. doi: 10.1016/j.molmed.2012.09.008 PMID: 23083810
-
(2012)
Trends Mol Med
, vol.18
, pp. 679-688
-
-
Bidou, L.1
Allamand, V.2
Rousset, J.P.3
Namy, O.4
-
14
-
-
0035253591
-
Gentamicin-mediated suppression of Hurler syndrome stop mutations restores a low level of alpha-L-iduronidase activity and reduces lysosomal glycosaminoglycan accumulation
-
PMID: 11159948
-
Keeling KM, Brooks DA, Hopwood JJ, Li P, Thompson JN, Bedwell DM (2001) Gentamicin-mediated suppression of Hurler syndrome stop mutations restores a low level of alpha-L-iduronidase activity and reduces lysosomal glycosaminoglycan accumulation. Hum Mol Genet 10:291-299. PMID: 11159948
-
(2001)
Hum Mol Genet
, vol.10
, pp. 291-299
-
-
Keeling, K.M.1
Brooks, D.A.2
Hopwood, J.J.3
Li, P.4
Thompson, J.N.5
Bedwell, D.M.6
-
15
-
-
1842635586
-
Alpha-L-iduronidase premature stop codons and potential read-through in mucopolysaccharidosis type I patients
-
PMID: 15081804
-
Hein LK, Bawden M, Muller VJ, Sillence D, Hopwood JJ, Brooks DA (2004) alpha-L-iduronidase premature stop codons and potential read-through in mucopolysaccharidosis type I patients. J Mol Biol 338:453-462. PMID: 15081804
-
(2004)
J Mol Biol
, vol.338
, pp. 453-462
-
-
Hein, L.K.1
Bawden, M.2
Muller, V.J.3
Sillence, D.4
Hopwood, J.J.5
Brooks, D.A.6
-
16
-
-
33746632991
-
Stop-codon read-through for patients affected by a lysosomal storage disorder
-
PMID: 16798086
-
Brooks DA, Muller VJ, Hopwood JJ (2006) Stop-codon read-through for patients affected by a lysosomal storage disorder. Trends Mol Med 12:367-373. PMID: 16798086
-
(2006)
Trends Mol Med
, vol.12
, pp. 367-373
-
-
Brooks, D.A.1
Muller, V.J.2
Hopwood, J.J.3
-
17
-
-
84855345879
-
The designer aminoglycoside NB84 significantly reduces glycosaminoglycan accumulation associated with MPS I-H in the Idua-W392X mouse
-
PMID: 22056610
-
Wang D, Belakhov V, Kandasamy J, Baasov T, Li SC, Li YT, et al. (2012). The designer aminoglycoside NB84 significantly reduces glycosaminoglycan accumulation associated with MPS I-H in the Idua-W392X mouse. Mol Genet Metab 105:116-125. doi:10.1016/j.ymgme.2011.10.005 PMID: 22056610
-
(2012)
Mol Genet Metab
, vol.105
, pp. 116-125
-
-
Wang, D.1
Belakhov, V.2
Kandasamy, J.3
Baasov, T.4
Li, S.C.5
Li, Y.T.6
-
18
-
-
84879685037
-
Pharmacological readthrough of nonsense ARSB mutations as a potential therapeutic approach for mucopolysaccharidosis VI
-
PMID: 22971959
-
Bartolomeo R, Polishchuk EV, Volpi N, Polishchuk RS, Auricchio A (2013) Pharmacological readthrough of nonsense ARSB mutations as a potential therapeutic approach for mucopolysaccharidosis VI. J Inherit Metab Dis 36:363-371. doi: 10.1007/s10545-012-9521-y PMID: 22971959
-
(2013)
J Inherit Metab Dis
, vol.36
, pp. 363-371
-
-
Bartolomeo, R.1
Polishchuk, E.V.2
Volpi, N.3
Polishchuk, R.S.4
Auricchio, A.5
-
19
-
-
84894487532
-
Long-term nonsense suppression therapy moderates MPS I-H disease progression
-
PMID: 24411223
-
Gunn G, Dai Y, Du M, Belakhov V, Kandasamy J, Schoeb TR, et al. (2014) Long-term nonsense suppression therapy moderates MPS I-H disease progression. Mol Genet Metab 111:374-381. doi: 10.1016/j.ymgme.2013.12.007 PMID: 24411223
-
(2014)
Mol Genet Metab
, vol.111
, pp. 374-381
-
-
Gunn, G.1
Dai, Y.2
Du, M.3
Belakhov, V.4
Kandasamy, J.5
Schoeb, T.R.6
-
20
-
-
33745628041
-
Clinical doses of amikacin provide more effective suppression of the human CFTR-G542X stop mutation than gentamicin in a transgenic CF mouse model
-
Du M, Keeling KM, Fan L, Liu X, Kovacs T, Sorscher E, et al. (2006) Clinical doses of amikacin provide more effective suppression of the human CFTR-G542X stop mutation than gentamicin in a transgenic CF mouse model. J Mol Med (Berl) 84:573-582.
-
(2006)
J Mol Med (Berl)
, vol.84
, pp. 573-582
-
-
Du, M.1
Keeling, K.M.2
Fan, L.3
Liu, X.4
Kovacs, T.5
Sorscher, E.6
-
21
-
-
33750570039
-
Novel aminoglycosides increase SMN levels in spinal muscular atrophy fibroblasts
-
PMID: 16951947
-
Mattis VB, Rai R, Wang J, Chang CW, Coady T, Lorson CL (2006) Novel aminoglycosides increase SMN levels in spinal muscular atrophy fibroblasts. Hum Genet 120:589-601. PMID: 16951947
-
(2006)
Hum Genet
, vol.120
, pp. 589-601
-
-
Mattis, V.B.1
Rai, R.2
Wang, J.3
Chang, C.W.4
Coady, T.5
Lorson, C.L.6
-
22
-
-
67649976636
-
Stop codon read-through of a methylmalonic aciduria mutation
-
PMID: 19427250
-
Buck NE, Wood L, Hu R, Peters HL (2009) Stop codon read-through of a methylmalonic aciduria mutation. Mol Genet Metab 97:244-249. doi: 10.1016/j.ymgme.2009.04.004 PMID: 19427250
-
(2009)
Mol Genet Metab
, vol.97
, pp. 244-249
-
-
Buck, N.E.1
Wood, L.2
Hu, R.3
Peters, H.L.4
-
23
-
-
70350448984
-
Nonaminoglycoside compounds induce readthrough of nonsense mutations
-
PMID: 19770270
-
Du L, Damoiseaux R, Nahas S, Gao K, Hu H, Pollard JM, et al. (2009) Nonaminoglycoside compounds induce readthrough of nonsense mutations. J Exp Med 206:2285-2297. doi: 10.1084/jem.20081940 PMID: 19770270
-
(2009)
J Exp Med
, vol.206
, pp. 2285-2297
-
-
Du, L.1
Damoiseaux, R.2
Nahas, S.3
Gao, K.4
Hu, H.5
Pollard, J.M.6
-
24
-
-
80052579665
-
Synthesis and evaluation of compounds that induce readthrough of premature termination codons
-
PMID: 21873052
-
Jung ME, Ku JM, Du L, Hu H, Gatti RA (2011) Synthesis and evaluation of compounds that induce readthrough of premature termination codons. Bioorg Med Chem Lett 21:5842-5848. doi: 10.1016/j.bmcl.2011.07.107 PMID: 21873052
-
(2011)
Bioorg Med Chem Lett
, vol.21
, pp. 5842-5848
-
-
Jung, M.E.1
Ku, J.M.2
Du, L.3
Hu, H.4
Gatti, R.A.5
-
25
-
-
65649136885
-
Development of novel aminoglycoside (NB54) with reduced toxicity and enhanced suppression of disease-causing premature stop mutations
-
PMID: 19309154
-
Nudelman I, Rebibo-Sabbah A, Cherniavsky M, Belakhov V, Hainrichson M, Chen F, et al. (2009) Development of novel aminoglycoside (NB54) with reduced toxicity and enhanced suppression of disease-causing premature stop mutations. J Med Chem 52:2836-2845. doi: 10.1021/jm801640k PMID: 19309154
-
(2009)
J Med Chem
, vol.52
, pp. 2836-2845
-
-
Nudelman, I.1
Rebibo-Sabbah, A.2
Cherniavsky, M.3
Belakhov, V.4
Hainrichson, M.5
Chen, F.6
-
26
-
-
34247588271
-
PTC124 targets genetic disorders caused by nonsense mutations
-
PMID: 17450125
-
Welch EM, Barton ER, Zhuo J, Tomizawa Y, Friesen WJ, Trifillis P, et al. (2007) PTC124 targets genetic disorders caused by nonsense mutations. Nature 447:87-91. PMID: 17450125
-
(2007)
Nature
, vol.447
, pp. 87-91
-
-
Welch, E.M.1
Barton, E.R.2
Zhuo, J.3
Tomizawa, Y.4
Friesen, W.J.5
Trifillis, P.6
-
27
-
-
41149111377
-
PTC124 is an orally bioavailable compound that promotes suppression of the human CFTR-G542X nonsense allele in a CF mouse model
-
PMID: 18272502
-
Du M, Liu X, Welch EM, Hirawat S, Peltz SW, Bedwell DM (2008) PTC124 is an orally bioavailable compound that promotes suppression of the human CFTR-G542X nonsense allele in a CF mouse model. Proc Natl Acad Sci U S A 105:2064-2069. doi: 10.1073/pnas.0711795105 PMID: 18272502
-
(2008)
Proc Natl Acad Sci U S A
, vol.105
, pp. 2064-2069
-
-
Du, M.1
Liu, X.2
Welch, E.M.3
Hirawat, S.4
Peltz, S.W.5
Bedwell, D.M.6
-
28
-
-
77956311645
-
Read-through strategies for suppression of nonsense mutations in Duchenne/ Becker muscular dystrophy: Aminoglycosides and ataluren (PTC124)
-
PMID: 20519671
-
Finkel RS (2010) Read-through strategies for suppression of nonsense mutations in Duchenne/ Becker muscular dystrophy: aminoglycosides and ataluren (PTC124). J Child Neurol 25:1158-1164. doi: 10.1177/0883073810371129 PMID: 20519671
-
(2010)
J Child Neurol
, vol.25
, pp. 1158-1164
-
-
Finkel, R.S.1
-
29
-
-
79955411378
-
PTC124-mediated translational readthrough of a nonsense mutation causing Usher syndrome type 1C
-
PMID: 21235327
-
Goldmann T, Overlack N, Wolfrum U, Nagel-Wolfrum K (2011) PTC124-mediated translational readthrough of a nonsense mutation causing Usher syndrome type 1C. Hum Gene Ther 22:537-547. doi: 10.1089/hum.2010.067 PMID: 21235327
-
(2011)
Hum Gene Ther
, vol.22
, pp. 537-547
-
-
Goldmann, T.1
Overlack, N.2
Wolfrum, U.3
Nagel-Wolfrum, K.4
-
30
-
-
79955697278
-
PTC124 improves readthrough and increases enzymatic activity of the CPT1A R160X nonsense mutation
-
PMID: 21253826
-
Tan L, Narayan SB, Chen J, Meyers GD, Bennett MJ (2011) PTC124 improves readthrough and increases enzymatic activity of the CPT1A R160X nonsense mutation. J Inherit Metab Dis 34:443-447. doi: 10.1007/s10545-010-9265-5 PMID: 21253826
-
(2011)
J Inherit Metab Dis
, vol.34
, pp. 443-447
-
-
Tan, L.1
Narayan, S.B.2
Chen, J.3
Meyers, G.D.4
Bennett, M.J.5
-
31
-
-
79953716256
-
Nonsense suppressor therapies rescue peroxisome lipid metabolism and assembly in cells from patients with specific PEX gene mutations
-
PMID: 21465523
-
Dranchak PK, Di Pietro E, Snowden A, Oesch N, Braverman NE, Steinberg SJ, et al. (2011) Nonsense suppressor therapies rescue peroxisome lipid metabolism and assembly in cells from patients with specific PEX gene mutations. J Cell Biochem 112:1250-1258. doi: 10.1002/jcb.22979 PMID: 21465523
-
(2011)
J Cell Biochem
, vol.112
, pp. 1250-1258
-
-
Dranchak, P.K.1
Di Pietro, E.2
Snowden, A.3
Oesch, N.4
Braverman, N.E.5
Steinberg, S.J.6
-
32
-
-
84865156597
-
Feasibility of nonsense mutation read-through as a novel therapeutical approach in propionic acidemia
-
PMID: 22334403
-
Sanchez-Alcudia R, Perez B, Ugarte M, Desviat LR (2012) Feasibility of nonsense mutation read-through as a novel therapeutical approach in propionic acidemia. Hum Mutat 33:973-980. doi: 10.1002/humu.22047 PMID: 22334403
-
(2012)
Hum Mutat
, vol.33
, pp. 973-980
-
-
Sanchez-Alcudia, R.1
Perez, B.2
Ugarte, M.3
Desviat, L.R.4
-
33
-
-
84879391161
-
A lack of premature termination codon read-through efficacy of PTC124 (Ataluren) in a diverse array of reporter assays
-
PMID: 23824517
-
McElroy SP, Nomura T, Torrie LS, Warbrick E, Gartner U, Wood G, et al. (2013) A lack of premature termination codon read-through efficacy of PTC124 (Ataluren) in a diverse array of reporter assays. PLoS Biol 11:e1001593. doi: 10.1371/journal.pbio.1001593 PMID: 23824517
-
(2013)
PLoS Biol
, vol.11
-
-
McElroy, S.P.1
Nomura, T.2
Torrie, L.S.3
Warbrick, E.4
Gartner, U.5
Wood, G.6
-
34
-
-
84873020912
-
Ataluren as an agent for therapeutic nonsense suppression
-
PMID: 23215857
-
Peltz SW, Morsy M, Welch EM, Jacobson A (2013) Ataluren as an agent for therapeutic nonsense suppression. Annu Rev Med 64:407-425. doi: 10.1146/annurev-med-120611-144851 PMID: 23215857
-
(2013)
Annu Rev Med
, vol.64
, pp. 407-425
-
-
Peltz, S.W.1
Morsy, M.2
Welch, E.M.3
Jacobson, A.4
-
35
-
-
84892946988
-
Postnatal manipulation of Pax6 dosage reverses congenital tissue malformation defects
-
PMID: 24355924
-
Gregory-Evans CY,Wang X, Wasan KM, Zhao J, Metcalfe AL, Gregory-Evans K (2014) Postnatal manipulation of Pax6 dosage reverses congenital tissue malformation defects. J Clin Invest 124:111-116. doi: 10.1172/JCI70462 PMID: 24355924
-
(2014)
J Clin Invest
, vol.124
, pp. 111-116
-
-
Gregory-Evans, C.Y.1
Wang, X.2
Wasan, K.M.3
Zhao, J.4
Metcalfe, A.L.5
Gregory-Evans, K.6
-
36
-
-
0033854425
-
Sequence specificity of aminoglycoside-induced stop condon readthrough: Potential implications for treatment of Duchenne muscular dystrophy
-
PMID: 10939566
-
Howard MT, Shirts BH, Petros LM, Flanigan KM, Gesteland RF, Atkins JF (2000) Sequence specificity of aminoglycoside-induced stop condon readthrough: potential implications for treatment of Duchenne muscular dystrophy. Ann Neurol 48:164-169. PMID: 10939566
-
(2000)
Ann Neurol
, vol.48
, pp. 164-169
-
-
Howard, M.T.1
Shirts, B.H.2
Petros, L.M.3
Flanigan, K.M.4
Gesteland, R.F.5
Atkins, J.F.6
-
37
-
-
0033929810
-
Aminoglycoside antibiotics mediate context-dependent suppression of termination codons in a mammalian translation system
-
PMID: 10917599
-
Manuvakhova M, Keeling K, Bedwell DM (2000) Aminoglycoside antibiotics mediate context-dependent suppression of termination codons in a mammalian translation system. RNA 6:1044-1055. PMID: 10917599
-
(2000)
RNA
, vol.6
, pp. 1044-1055
-
-
Manuvakhova, M.1
Keeling, K.2
Bedwell, D.M.3
-
38
-
-
1842586020
-
Premature stop codons involved in muscular dystrophies show a broad spectrum of readthrough efficiencies in response to gentamicin treatment
-
PMID: 14973546
-
Bidou L, Hatin I, Perez N, Allamand V, Panthier JJ, Rousset JP (2004) Premature stop codons involved in muscular dystrophies show a broad spectrum of readthrough efficiencies in response to gentamicin treatment. Gene Ther 11:619-627. PMID: 14973546
-
(2004)
Gene Ther
, vol.11
, pp. 619-627
-
-
Bidou, L.1
Hatin, I.2
Perez, N.3
Allamand, V.4
Panthier, J.J.5
Rousset, J.P.6
-
39
-
-
39449127401
-
Drug-induced readthrough of premature stop codons leads to the stabilization of laminin alpha2 chain mRNA in CMD myotubes
-
PMID: 18074402
-
Allamand V, Bidou L, Arakawa M, Floquet C, Shiozuka M, Paturneau-Jouas M, et al. (2008) Drug-induced readthrough of premature stop codons leads to the stabilization of laminin alpha2 chain mRNA in CMD myotubes. J Gene Med 10:217-224. PMID: 18074402
-
(2008)
J Gene Med
, vol.10
, pp. 217-224
-
-
Allamand, V.1
Bidou, L.2
Arakawa, M.3
Floquet, C.4
Shiozuka, M.5
Paturneau-Jouas, M.6
-
40
-
-
77449140016
-
In vitro readthrough of termination codons by gentamycin in the Stuve-Wiedemann Syndrome
-
PMID: 19603067
-
Bellais S, Le Goff C, Dagoneau N, Munnich A, Cormier-Daire V (2010) In vitro readthrough of termination codons by gentamycin in the Stuve-Wiedemann Syndrome. Eur J Hum Genet 18:130-132. doi: 10.1038/ejhg.2009.122 PMID: 19603067
-
(2010)
Eur J Hum Genet
, vol.18
, pp. 130-132
-
-
Bellais, S.1
Le Goff, C.2
Dagoneau, N.3
Munnich, A.4
Cormier-Daire, V.5
-
41
-
-
34548458833
-
Identification of the molecular defects in Spanish and Argentinian mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) patients, including 9 novel mutations
-
PMID: 17643332
-
Garrido E, Chabas A, Coll MJ, Blanco M, Dominguez C, Grinberg D, et al. (2007) Identification of the molecular defects in Spanish and Argentinian mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) patients, including 9 novel mutations. Mol Genet Metab 92:122-130. PMID: 17643332
-
(2007)
Mol Genet Metab
, vol.92
, pp. 122-130
-
-
Garrido, E.1
Chabas, A.2
Coll, M.J.3
Blanco, M.4
Dominguez, C.5
Grinberg, D.6
-
42
-
-
0035107648
-
Allelic heterogeneity in Spanish patients with Sanfilippo disease type B. Identification of eight new mutations
-
PMID: 11286389
-
Coll MJ, Anton C, Chabas A (2001) Allelic heterogeneity in Spanish patients with Sanfilippo disease type B. Identification of eight new mutations. J Inherit Metab Dis 24:83-84. PMID: 11286389
-
(2001)
J Inherit Metab Dis
, vol.24
, pp. 83-84
-
-
Coll, M.J.1
Anton, C.2
Chabas, A.3
-
43
-
-
84904164585
-
Treatment effect of coenzyme Q and an antioxidant cocktail in fibroblasts of patients with Sanfilippo disease
-
PMID: 24347096
-
Matalonga L, Arias A, Coll MJ, Garcia-Villoria J, Gort L, et al. (2014) Treatment effect of coenzyme Q and an antioxidant cocktail in fibroblasts of patients with Sanfilippo disease. J Inherit Metab Dis 37: 439-446. doi: 10.1007/s10545-013-9668-1 PMID: 24347096
-
(2014)
J Inherit Metab Dis
, vol.37
, pp. 439-446
-
-
Matalonga, L.1
Arias, A.2
Coll, M.J.3
Garcia-Villoria, J.4
Gort, L.5
-
44
-
-
0034202512
-
Identification of mutations in the arylsulfatase B gene in Russian mucopolysaccharidosis type VI patients
-
PMID: 10923267
-
Voskoboeva E, Krasnopol'skaia KD, Peters K, von Figura K (2000) Identification of mutations in the arylsulfatase B gene in Russian mucopolysaccharidosis type VI patients. Genetika 36:837-843. PMID: 10923267
-
(2000)
Genetika
, vol.36
, pp. 837-843
-
-
Voskoboeva, E.1
Krasnopol'skaia, K.D.2
Peters, K.3
Von Figura, K.4
-
45
-
-
0033063112
-
Maroteaux-lamy syndrome: Five novel mutations and their structural localization
-
PMID: 10036316
-
Villani GR, Balzano N, Vitale D, Saviano M, Pavone V, Di Natale P (1999) Maroteaux-lamy syndrome: five novel mutations and their structural localization. Biochim Biophys Acta 1453:185-192. PMID: 10036316
-
(1999)
Biochim Biophys Acta
, vol.1453
, pp. 185-192
-
-
Villani, G.R.1
Balzano, N.2
Vitale, D.3
Saviano, M.4
Pavone, V.5
Di Natale, P.6
-
46
-
-
67649652050
-
Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B in Spanish patients
-
PMID: 19405096
-
Rodriguez-Pascau L, Gort L, Schuchman EH, Vilageliu L, Grinberg D, Chabás A (2009) Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B in Spanish patients. Hum Mutat 30:1117-1122. doi: 10.1002/humu.21018 PMID: 19405096
-
(2009)
Hum Mutat
, vol.30
, pp. 1117-1122
-
-
Rodriguez-Pascau, L.1
Gort, L.2
Schuchman, E.H.3
Vilageliu, L.4
Grinberg, D.5
Chabás, A.6
-
47
-
-
0028892298
-
Two new mutations in the acid sphingomyelinase gene causing type a Niemann-pick disease: N389T and R441X
-
PMID: 8680412
-
Schuchman EH (1995) Two new mutations in the acid sphingomyelinase gene causing type a Niemann-pick disease: N389T and R441X. Hum Mutat 6:352-354. PMID: 8680412
-
(1995)
Hum Mutat
, vol.6
, pp. 352-354
-
-
Schuchman, E.H.1
-
48
-
-
38049115253
-
Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands
-
PMID: 18024218
-
Ruijter GJ, Valstar MJ, van de Kamp JM, van der Helm RM, Durand S, van Diggelen OP, et al. (2008) Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands. Mol Genet Metab 93:104-111. PMID: 18024218
-
(2008)
Mol Genet Metab
, vol.93
, pp. 104-111
-
-
Ruijter, G.J.1
Valstar, M.J.2
Van De Kamp, J.M.3
Van Der Helm, R.M.4
Durand, S.5
Van Diggelen, O.P.6
-
49
-
-
80053620484
-
Molecular characterization of MPS IIIA, MPS IIIB and MPS IIIC in Tunisian patients
-
PMID: 21910976
-
Ouesleti S, Brunel V, Ben Turkia H, Dranguet H, Miled A, Miladi N, et al. (2011) Molecular characterization of MPS IIIA, MPS IIIB and MPS IIIC in Tunisian patients. Clin Chim Acta 412:2326-2331. doi: 10.1016/j.cca.2011.08.032 PMID: 21910976
-
(2011)
Clin Chim Acta
, vol.412
, pp. 2326-2331
-
-
Ouesleti, S.1
Brunel, V.2
Ben Turkia, H.3
Dranguet, H.4
Miled, A.5
Miladi, N.6
-
50
-
-
85027926205
-
Therapeutic strategies based on modified U1 snRNAs and chaperones for Sanfilippo C splicing mutations
-
PMID: 25491247
-
Matos L, Canals I, Dridi L, Choi Y, Prata M, et al. (2014) Therapeutic strategies based on modified U1 snRNAs and chaperones for Sanfilippo C splicing mutations. Orphanet J Rare Dis. 9:180. doi: 10.1186/s13023-014-0180-y PMID: 25491247
-
(2014)
Orphanet J Rare Dis
, vol.9
, pp. 180
-
-
Matos, L.1
Canals, I.2
Dridi, L.3
Choi, Y.4
Prata, M.5
-
51
-
-
44649125943
-
Maroteaux-Lamy syndrome: Functional characterization of pathogenic mutations and polymorphisms in the arylsulfatase B gene
-
PMID: 18406185
-
Garrido E, Cormand B, Hopwood JJ, Chabas A, Grinberg D, Vilageliu L (2008) Maroteaux-Lamy syndrome: functional characterization of pathogenic mutations and polymorphisms in the arylsulfatase B gene. Mol Genet Metab 94:305-312. doi: 10.1016/j.ymgme.2008.02.012 PMID: 18406185
-
(2008)
Mol Genet Metab
, vol.94
, pp. 305-312
-
-
Garrido, E.1
Cormand, B.2
Hopwood, J.J.3
Chabas, A.4
Grinberg, D.5
Vilageliu, L.6
-
52
-
-
84883742368
-
A new series of small molecular weight compounds induce read through of all three types of nonsense mutations in the ATM gene
-
PMID: 23774824
-
Du L, Jung ME, Damoiseaux R, Completo G, Fike F, Ku JM, et al. (2013) A new series of small molecular weight compounds induce read through of all three types of nonsense mutations in the ATM gene. Mol Ther 21:1653-1660. doi: 10.1038/mt.2013.150 PMID: 23774824
-
(2013)
Mol Ther
, vol.21
, pp. 1653-1660
-
-
Du, L.1
Jung, M.E.2
Damoiseaux, R.3
Completo, G.4
Fike, F.5
Ku, J.M.6
-
53
-
-
84888346234
-
Repair of UV photolesions in xeroderma pigmentosum group C cells induced by translational readthrough of premature termination codons
-
PMID: 24218596
-
Kuschal C, Digiovanna JJ, Khan SG, Gatti RA, Kraemer KH (2013) Repair of UV photolesions in xeroderma pigmentosum group C cells induced by translational readthrough of premature termination codons. Proc Natl Acad Sci U S A 110:19483-19488. doi: 10.1073/pnas.1312088110 PMID: 24218596
-
(2013)
Proc Natl Acad Sci U S A
, vol.110
, pp. 19483-19488
-
-
Kuschal, C.1
Digiovanna, J.J.2
Khan, S.G.3
Gatti, R.A.4
Kraemer, K.H.5
-
54
-
-
84886302893
-
Using the Student t-test with extremely small sample sizes
-
de Winter JCF (2013) Using the Student t-test with extremely small sample sizes. Prac Assess Res Eval 18:1-12.
-
(2013)
Prac Assess Res Eval
, vol.18
, pp. 1-12
-
-
De Winter, J.C.F.1
-
55
-
-
84868212770
-
Cancer syndromes and therapy by stopcodon readthrough
-
PMID: 23044248
-
Bordeira-Carrico R, Pego AP, Santos M, Oliveira C (2012) Cancer syndromes and therapy by stopcodon readthrough. Trends Mol Med 18:667-678. doi: 10.1016/j.molmed.2012.09.004 PMID: 23044248
-
(2012)
Trends Mol Med
, vol.18
, pp. 667-678
-
-
Bordeira-Carrico, R.1
Pego, A.P.2
Santos, M.3
Oliveira, C.4
-
56
-
-
8144226267
-
Correction of ATM gene function by aminoglycoside-induced read-through of premature termination codons
-
PMID: 15498871
-
Lai CH, Chun HH, Nahas SA, Mitui M, Gamo KM, Du L, et al. (2004) Correction of ATM gene function by aminoglycoside-induced read-through of premature termination codons. Proc Natl Acad Sci U S A 101:15676-15681. PMID: 15498871
-
(2004)
Proc Natl Acad Sci U S A
, vol.101
, pp. 15676-15681
-
-
Lai, C.H.1
Chun, H.H.2
Nahas, S.A.3
Mitui, M.4
Gamo, K.M.5
Du, L.6
-
57
-
-
79955588050
-
Rescue of non-sense mutated p53 tumor suppressor gene by aminoglycosides
-
PMID: 21149266
-
Floquet C, Deforges J, Rousset JP, Bidou L (2011) Rescue of non-sense mutated p53 tumor suppressor gene by aminoglycosides. Nucleic Acids Res 39:3350-3362. doi: 10.1093/nar/gkq1277 PMID: 21149266
-
(2011)
Nucleic Acids Res
, vol.39
, pp. 3350-3362
-
-
Floquet, C.1
Deforges, J.2
Rousset, J.P.3
Bidou, L.4
-
58
-
-
84865794295
-
Read-through compound 13 restores dystrophin expression and improves muscle function in the mdx mouse model for Duchenne muscular dystrophy
-
PMID: 22692682
-
Kayali R, Ku JM, Khitrov G, Jung ME, Prikhodko O, Bertoni C (2012) Read-through compound 13 restores dystrophin expression and improves muscle function in the mdx mouse model for Duchenne muscular dystrophy. Hum Mol Genet 21:4007-4020. doi: 10.1093/hmg/dds223 PMID: 22692682
-
(2012)
Hum Mol Genet
, vol.21
, pp. 4007-4020
-
-
Kayali, R.1
Ku, J.M.2
Khitrov, G.3
Jung, M.E.4
Prikhodko, O.5
Bertoni, C.6
-
59
-
-
84859239887
-
Statistical analysis of readthrough levels for nonsense mutations in mammalian cells reveals a major determinant of response to gentamicin
-
PMID: 22479203
-
Floquet C, Hatin I, Rousset JP, Bidou L (2012) Statistical analysis of readthrough levels for nonsense mutations in mammalian cells reveals a major determinant of response to gentamicin. PLoS Genet 8: e1002608. doi:10.1371/journal.pgen.1002608 PMID: 22479203
-
(2012)
PLoS Genet
, vol.8
-
-
Floquet, C.1
Hatin, I.2
Rousset, J.P.3
Bidou, L.4
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