-
1
-
-
0030985156
-
The complex pathology of trinucleotide repeats
-
Reddy P.S., Housman D.E. The complex pathology of trinucleotide repeats. Curr. Opin. Cell Biol. 3:1997;364-372.
-
(1997)
Curr. Opin. Cell Biol.
, vol.3
, pp. 364-372
-
-
Reddy, P.S.1
Housman, D.E.2
-
2
-
-
0342813045
-
Deciphering the cause of Friedreich ataxia
-
Koenig M., Mandel J.L. Deciphering the cause of Friedreich ataxia. Curr. Opin. Neurobiol. 7:1997;689-694.
-
(1997)
Curr. Opin. Neurobiol.
, vol.7
, pp. 689-694
-
-
Koenig, M.1
Mandel, J.L.2
-
3
-
-
0025142114
-
Friedreich ataxia in Italian families: Genetic homogeneity and linkage disequilibrium with the marker loci D9S5 and D9S15
-
Pandolfo M., Didonato S.et al. Friedreich ataxia in Italian families: genetic homogeneity and linkage disequilibrium with the marker loci D9S5 and D9S15. Am. J. Hum. Genet. 47:1990;228-235.
-
(1990)
Am. J. Hum. Genet.
, vol.47
, pp. 228-235
-
-
Pandolfo, M.1
Didonato, S.2
-
4
-
-
0032863136
-
Molecular pathogenesis of Friedreich ataxia
-
Pandolfo M. Molecular pathogenesis of Friedreich ataxia. Arch. Neurol. 56:1999;1201-1208.
-
(1999)
Arch. Neurol.
, vol.56
, pp. 1201-1208
-
-
Pandolfo, M.1
-
5
-
-
0029821176
-
Clinical and genetic abnormalities in patients with Friedreich's ataxia
-
Durr A., Koenig M.et al. Clinical and genetic abnormalities in patients with Friedreich's ataxia. N. Engl. J. Med. 335:1996;1169-1175.
-
(1996)
N. Engl. J. Med.
, vol.335
, pp. 1169-1175
-
-
Durr, A.1
Koenig, M.2
-
6
-
-
0023751357
-
Mapping of mutation causing Friedreich's ataxia to human chromosome 9
-
Chamberlain S., Williamson R.et al. Mapping of mutation causing Friedreich's ataxia to human chromosome 9. Nature. 334:1988;248-250.
-
(1988)
Nature
, vol.334
, pp. 248-250
-
-
Chamberlain, S.1
Williamson, R.2
-
7
-
-
0027410313
-
Genetic recombination events which position the Friedreich ataxia locus proximal to the D9S15/D9S5 linkage group on chromosome 9q
-
Chamberlain S., Pandolfo M.et al. Genetic recombination events which position the Friedreich ataxia locus proximal to the D9S15/D9S5 linkage group on chromosome 9q. Am. J. Hum. Genet. 52:1993;99-109.
-
(1993)
Am. J. Hum. Genet.
, vol.52
, pp. 99-109
-
-
Chamberlain, S.1
Pandolfo, M.2
-
8
-
-
13344270899
-
Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion
-
Campuzano V., Pandolfo M.et al. Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science. 271:1996;1423-1427.
-
(1996)
Science
, vol.271
, pp. 1423-1427
-
-
Campuzano, V.1
Pandolfo, M.2
-
9
-
-
0344820730
-
Friedreich's ataxia: Point mutations and clinical presentation of compound heterozygotes
-
Cossee M., Pandolfo M.et al. Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes. Ann. Neurol. 45:1999;200-206.
-
(1999)
Ann. Neurol.
, vol.45
, pp. 200-206
-
-
Cossee, M.1
Pandolfo, M.2
-
10
-
-
0030813487
-
Studies of human, mouse yeast homologues indicate a mitochondrial function for frataxin
-
Koutnikova H., Campuzano V., Foury F., Dolle P., Cazzalini O., Koenig M.Studies of human, mouse yeast homologues indicate a mitochondrial function for frataxin Nat. Genet. 16:1997;345-351.
-
(1997)
Nat. Genet.
, vol.16
, pp. 345-351
-
-
Koutnikova, H.1
Campuzano, V.2
Foury, F.3
Dolle, P.4
Cazzalini, O.5
Koenig, M.6
-
11
-
-
0030296878
-
Friedreich's ataxia protein: Phylogenetic evidence for mitochondrial dysfunction
-
Gibson T.J., Koonin E.V., Musco G., Pastore A., Bork P. Friedreich's ataxia protein. phylogenetic evidence for mitochondrial dysfunction Trends Neurosci. 19:1996;465-468.
-
(1996)
Trends Neurosci.
, vol.19
, pp. 465-468
-
-
Gibson, T.J.1
Koonin, E.V.2
Musco, G.3
Pastore, A.4
Bork, P.5
-
12
-
-
0030846021
-
Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin
-
Babcock M., Kaplan Jet al. Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin. Science. 276:1997;1709-1712.
-
(1997)
Science
, vol.276
, pp. 1709-1712
-
-
Babcock, M.1
Kaplan, J.-A.2
-
13
-
-
9844222853
-
Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes
-
Campuzano V., Koenig M.et al. Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes. Hum. Mol. Genet. 6:1997;1771-1780.
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 1771-1780
-
-
Campuzano, V.1
Koenig, M.2
-
14
-
-
0031567601
-
Deletion of the yeast homologue of the human gene associated with Friedreich's ataxia elicits iron accumulation in mitochondria
-
Foury F., Cazzalini O. Deletion of the yeast homologue of the human gene associated with Friedreich's ataxia elicits iron accumulation in mitochondria. FEBS Lett. 411:1997;373-377.
-
(1997)
FEBS Lett.
, vol.411
, pp. 373-377
-
-
Foury, F.1
Cazzalini, O.2
-
15
-
-
0030825723
-
Respiratory deficiency due to loss of mitochondrial DNA in yeast lacking the frataxin homologue
-
Wilson R.B., Roof D.M. Respiratory deficiency due to loss of mitochondrial DNA in yeast lacking the frataxin homologue. Nat. Genet. 16:1997;352-357.
-
(1997)
Nat. Genet.
, vol.16
, pp. 352-357
-
-
Wilson, R.B.1
Roof, D.M.2
-
16
-
-
0019169563
-
The cardiomyopathy of Friedreich's ataxia morphological observations in three cases
-
Lamarche J.B., Cote M., Lemieux B. The cardiomyopathy of Friedreich's ataxia morphological observations in three cases. Can. J. Neurol. Sci. 7:1980;389-396.
-
(1980)
Can. J. Neurol. Sci.
, vol.7
, pp. 389-396
-
-
Lamarche, J.B.1
Cote, M.2
Lemieux, B.3
-
18
-
-
0033054177
-
The Friedreich's ataxia mutation confers cellular sensitivity to oxidant stress which is rescued by chelators of iron and calcium and inhibitors of apoptosis
-
Wong A., F. Cortopassi G.et al. The Friedreich's ataxia mutation confers cellular sensitivity to oxidant stress which is rescued by chelators of iron and calcium and inhibitors of apoptosis. Hum. Mol. Genet. 8:1999;425-430.
-
(1999)
Hum. Mol. Genet
, vol.8
, pp. 425-430
-
-
Wong, A.1
F. Cortopassi, G.2
-
19
-
-
0032914608
-
Direct evidence that mitochondrial iron accumulation occurs in Friedreich ataxia
-
Delatycki M.B.et al., Forrest S.M.et al. Direct evidence that mitochondrial iron accumulation occurs in Friedreich ataxia. Annu. Neurol. 45:1999;673-675.
-
(1999)
Annu. Neurol.
, vol.45
, pp. 673-675
-
-
Delatycki, M.B.1
Forrest, S.M.2
-
20
-
-
0031253821
-
Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia
-
Rotig A., Rustin P.et al. Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia. Nat. Genet. 17:1997;215-217.
-
(1997)
Nat. Genet.
, vol.17
, pp. 215-217
-
-
Rotig, A.1
Rustin, P.2
-
21
-
-
0033582421
-
The yeast frataxin homologue mediates mitochondrial iron efflux. Evidence for a mitochondrial iron cycle
-
Radisky D.C., Babcock M.C., Kaplan J. The yeast frataxin homologue mediates mitochondrial iron efflux. Evidence for a mitochondrial iron cycle. J. Biol. Chem. 274:1999;4497-4499.
-
(1999)
J. Biol. Chem.
, vol.274
, pp. 4497-4499
-
-
Radisky, D.C.1
Babcock, M.C.2
Kaplan, J.3
-
22
-
-
0029971594
-
Abnormalities of antioxidant metabolism in a case of Friedreich's disease
-
Helveston W., Cibula J.E., Hurd R., Uthman B.M., Wilder B.J. Abnormalities of antioxidant metabolism in a case of Friedreich's disease. Clin. Neuropharmacol. 19:1996;271-275.
-
(1996)
Clin. Neuropharmacol.
, vol.19
, pp. 271-275
-
-
Helveston, W.1
Cibula, J.E.2
Hurd, R.3
Uthman, B.M.4
Wilder, B.J.5
-
23
-
-
0033533071
-
Effect of idebenone on cardiomyopathy in Friedreich's ataxia: A preliminary study
-
Rustin P., von Kleist-Retzow J.C., Chantrel-Groussard K., Sidi D., Munnich A., Rotig A. Effect of idebenone on cardiomyopathy in Friedreich's ataxia. a preliminary study Lancet. 354:1999;477-479.
-
(1999)
Lancet
, vol.354
, pp. 477-479
-
-
Rustin, P.1
Von Kleist-Retzow, J.C.2
Chantrel-Groussard, K.3
Sidi, D.4
Munnich, A.5
Rotig, A.6
-
24
-
-
0342849618
-
Frataxin is an iron-storage protein
-
abstract
-
Adamec, J., Rusnak, F., Owen, W.G., Naylor, S., Benson, L.M. & Isaya, G. (1999) Frataxin is an iron-storage protein. ASHG meeting, abstract.
-
(1999)
ASHG Meeting
-
-
Adamec, J.1
Rusnak, F.2
Owen, W.G.3
Naylor, S.4
Benson, L.M.5
Isaya, G.6
-
25
-
-
0031656903
-
Maturation of wild-type and mutated frataxin by the mitochondrial processing peptidase
-
Koutnikova H., Campuzano V., Koenig M. Maturation of wild-type and mutated frataxin by the mitochondrial processing peptidase. Hum. Mol. Genet. 7:1998;1485-1489.
-
(1998)
Hum. Mol. Genet.
, vol.7
, pp. 1485-1489
-
-
Koutnikova, H.1
Campuzano, V.2
Koenig, M.3
-
26
-
-
0032970156
-
Mitochondrial intermediate peptidase and the yeast frataxin homolog together maintain mitochondrial iron homeostasis in Saccharomyces cerevisiae
-
Branda S.S., Yang Z., Chew A., Isaya G. Mitochondrial intermediate peptidase and the yeast frataxin homolog together maintain mitochondrial iron homeostasis in Saccharomyces cerevisiae. Hum. Mol. Genet. 8:1999;1099-1110.
-
(1999)
Hum. Mol. Genet.
, vol.8
, pp. 1099-1110
-
-
Branda, S.S.1
Yang, Z.2
Chew, A.3
Isaya, G.4
-
27
-
-
0032695778
-
Maturation of frataxin within mammalian and yeast mitochondria: One-step processing by matrix processing peptidase
-
Gordon D.M., Shi Q., Dancis A., Pain D. Maturation of frataxin within mammalian and yeast mitochondria. one-step processing by matrix processing peptidase Hum. Mol. Genet. 8:1999;2255-2262.
-
(1999)
Hum. Mol. Genet.
, vol.8
, pp. 2255-2262
-
-
Gordon, D.M.1
Shi, Q.2
Dancis, A.3
Pain, D.4
-
28
-
-
0033197094
-
13C resonances of the C-terminal domain of frataxin, the protein responsible for Friedreich ataxia
-
13C resonances of the C-terminal domain of frataxin, the protein responsible for Friedreich ataxia. J. Biomol. NMR. 15:1999;87-88.
-
(1999)
J. Biomol. NMR
, vol.15
, pp. 87-88
-
-
Musco, G.1
Pastore, A.2
-
29
-
-
0033616764
-
Crystal structure of human p32, a doughnut-shaped acidic mitochondrial matrix protein
-
Jiang J., Zhang Y., Krainer A.R., Xu R.M. Crystal structure of human p32, a doughnut-shaped acidic mitochondrial matrix protein. Proc. Natl Acad. Sci. USA. 96:1999;3572-3577.
-
(1999)
Proc. Natl Acad. Sci. USA
, vol.96
, pp. 3572-3577
-
-
Jiang, J.1
Zhang, Y.2
Krainer, A.R.3
Xu, R.M.4
-
30
-
-
0030608152
-
The ferritins: Molecular properties, iron storage function and cellular regulation
-
Harrison P., Arosio P. The ferritins. molecular properties, iron storage function and cellular regulation Biochim. Biophys. Acta. 1275:1996;161-203.
-
(1996)
Biochim. Biophys. Acta
, vol.1275
, pp. 161-203
-
-
Harrison, P.1
Arosio, P.2
-
31
-
-
0033986734
-
The dodecameric ferritin from Listeria innocua contains a novel inter-subunit iron-binding site
-
Ilari A., Stefanini S., Chiancone E., Tsernoglou D. The dodecameric ferritin from Listeria innocua contains a novel inter-subunit iron-binding site. Nat. Struct. Biol. 7:2000;38-43.
-
(2000)
Nat. Struct. Biol.
, vol.7
, pp. 38-43
-
-
Ilari, A.1
Stefanini, S.2
Chiancone, E.3
Tsernoglou, D.4
-
32
-
-
0005622907
-
A missense mutation (W155R) in an American patient with Friedreich ataxia
-
Labuda M., Poirier J., Pandolfo M. A missense mutation (W155R) in an American patient with Friedreich ataxia. Human Mutation. 13:1999;506-507.
-
(1999)
Human Mutation
, vol.13
, pp. 506-507
-
-
Labuda, M.1
Poirier, J.2
Pandolfo, M.3
-
33
-
-
0024297166
-
Chemical and Mossbauer spectroscopic evidence that iron-containing concanavalin A is a ferritin
-
Yariv J., Kalb A.J., Helliwell J.R., Papiz M.Z., Bauminger E.R., Nowick I. Chemical and Mossbauer spectroscopic evidence that iron-containing concanavalin A is a ferritin. J. of Biol. Chem. 263:1988;13508-13510.
-
(1988)
J. of Biol. Chem.
, vol.263
, pp. 13508-13510
-
-
Yariv, J.1
Kalb, A.J.2
Helliwell, J.R.3
Papiz, M.Z.4
Bauminger, E.R.5
Nowick, I.6
-
34
-
-
0024971023
-
A jack bean protein similar to pea seed ferritin and unrelated to concanavalin A is the only iron storage protein in Jack bean seeds, although concanavalin A can form ferritin-like iron cores in vitro
-
Briat J.F., Massenet O., Laulhere J.P. A jack bean protein similar to pea seed ferritin and unrelated to concanavalin A is the only iron storage protein in Jack bean seeds, although concanavalin A can form ferritin-like iron cores in vitro. J. of Biol. Chem. 264:1989;11550-11553.
-
(1989)
J. of Biol. Chem.
, vol.264
, pp. 11550-11553
-
-
Briat, J.F.1
Massenet, O.2
Laulhere, J.P.3
-
35
-
-
0032920837
-
Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A)
-
Allikmets R., Raskind W.H., Hutchinson A., Schueck N.D., Dean M., Koeller D.M. Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A). Hum. Mol. Genet. 8:1999;5743-5749.
-
(1999)
Hum. Mol. Genet.
, vol.8
, pp. 5743-5749
-
-
Allikmets, R.1
Raskind, W.H.2
Hutchinson, A.3
Schueck, N.D.4
Dean, M.5
Koeller, D.M.6
-
36
-
-
0032797179
-
Knock-out of the cyaY gene in Escherichia coli does not affect cellular iron content and sensitivity to oxidants
-
Li D.S., Ohshima K., Jiralerspong S., Bojanowski M.W., Pandolfo M. Knock-out of the cyaY gene in Escherichia coli does not affect cellular iron content and sensitivity to oxidants. FEBS Lett. 456:1999;13-16.
-
(1999)
FEBS Lett.
, vol.456
, pp. 13-16
-
-
Li, D.S.1
Ohshima, K.2
Jiralerspong, S.3
Bojanowski, M.W.4
Pandolfo, M.5
-
37
-
-
0033565665
-
The mitochondrial proteins Atm1p and Nfs1p are essential for biogenesis of cytosolic Fe/S proteins
-
Kispal G., Csere P., Prohl C., Lill R. The mitochondrial proteins Atm1p and Nfs1p are essential for biogenesis of cytosolic Fe/S proteins. EMBO J. 18:1999;3981-3989.
-
(1999)
EMBO J.
, vol.18
, pp. 3981-3989
-
-
Kispal, G.1
Csere, P.2
Prohl, C.3
Lill, R.4
-
38
-
-
0032126855
-
Transverse relaxation optimized spectroscopy (TROSY) for NMR studies of aromatic spin systems in 13C-labelled proteins
-
Pervushin K., Riek R., Wider G., Wüthrich K. Transverse relaxation optimized spectroscopy (TROSY) for NMR studies of aromatic spin systems in 13C-labelled proteins. J. Am. Chem. Soc. 120:1998;6394-6400.
-
(1998)
J. Am. Chem. Soc.
, vol.120
, pp. 6394-6400
-
-
Pervushin, K.1
Riek, R.2
Wider, G.3
Wüthrich, K.4
-
39
-
-
0002068873
-
Two-dimensional NMR experiments for the assignment of aromatic sidechains in 13C-labelled proteins
-
Prompers J.J., Groenewegen J.J., Hilbers C.W., Pepermans H.A.M. Two-dimensional NMR experiments for the assignment of aromatic sidechains in 13C-labelled proteins. J. Mag. Res. 130:1998;63-67.
-
(1998)
J. Mag. Res.
, vol.130
, pp. 63-67
-
-
Prompers, J.J.1
Groenewegen, J.J.2
Hilbers, C.W.3
Pepermans, H.A.M.4
-
40
-
-
0031576336
-
Torsion angle dynamics for NMR structure calculation with the new program DYANA
-
Guntert P., Mumenthaler C., Wüthrich K. Torsion angle dynamics for NMR structure calculation with the new program DYANA. J. Mol. Biol. 273:1997;283-298.
-
(1997)
J. Mol. Biol.
, vol.273
, pp. 283-298
-
-
Guntert, P.1
Mumenthaler, C.2
Wüthrich, K.3
-
41
-
-
0031566434
-
Automated NOESY interpretation with ambiguous distance restraints: The refined NMR solution structure of the pleckstrin homology domain from β-spectrin
-
Nilges M., Macias M.J., O'Donoghue S.I., Oschkinat H. Automated NOESY interpretation with ambiguous distance restraints: the refined NMR solution structure of the pleckstrin homology domain from β-spectrin. J. Mol. Biol. 269:1997;408-422.
-
(1997)
J. Mol. Biol.
, vol.269
, pp. 408-422
-
-
Nilges, M.1
Macias, M.J.2
O'Donoghue, S.I.3
Oschkinat, H.4
-
42
-
-
0031110495
-
Floating stereospecific assignment revisited: Application to an 18 kDa protein and comparison with J-coupling data
-
Folmer R.H., Hilbers C.W., Konings R.N., Nilges M. Floating stereospecific assignment revisited: application to an 18 kDa protein and comparison with J-coupling data. J. Biomol. NMR. 9:1997;245-258.
-
(1997)
J. Biomol. NMR
, vol.9
, pp. 245-258
-
-
Folmer, R.H.1
Hilbers, C.W.2
Konings, R.N.3
Nilges, M.4
-
43
-
-
0030339738
-
AQUA and PROCHECK-NMR: Programs for checking the quality of protein structures solved by NMR
-
Laskowski R.A., Rullmannn J.A., MacArthur M.W., Kaptein R., Thornton J.M. AQUA and PROCHECK-NMR. programs for checking the quality of protein structures solved by NMR J. Biomol. NMR. 8:1996;477-486.
-
(1996)
J. Biomol. NMR
, vol.8
, pp. 477-486
-
-
Laskowski, R.A.1
Rullmannn, J.A.2
MacArthur, M.W.3
Kaptein, R.4
Thornton, J.M.5
-
44
-
-
0027490731
-
Recognition of errors in three-dimensional structures of proteins
-
Sippl M.J. Recognition of errors in three-dimensional structures of proteins. Proteins. 17:1993;355-362.
-
(1993)
Proteins
, vol.17
, pp. 355-362
-
-
Sippl, M.J.1
-
45
-
-
0025398721
-
WHAT IF: A molecular modelling and drug design program
-
Vriend G. WHAT IF. a molecular modelling and drug design program J. Mol. Graph. 8:1990;52-56.
-
(1990)
J. Mol. Graph.
, vol.8
, pp. 52-56
-
-
Vriend, G.1
-
46
-
-
0031574072
-
The CLUSTALX windows interface: Flexible strategies for multiple sequence alignment aided by quality analysis tools
-
Thompson J.D., Gibson T.J., Plewniak F., Jeanmougin F., Higgins D.G. The CLUSTALX windows interface: flexible strategies for multiple sequence alignment aided by quality analysis tools. Nucleic Acids Res. 25:1997;4876-4882.
-
(1997)
Nucleic Acids Res.
, vol.25
, pp. 4876-4882
-
-
Thompson, J.D.1
Gibson, T.J.2
Plewniak, F.3
Jeanmougin, F.4
Higgins, D.G.5
-
47
-
-
0032511744
-
Identification of a missense mutation in a Friedreich's ataxia patient: Implications for diagnosis and carrier studies
-
Bartolo C., Mendell J.R., Prior T.W. Identification of a missense mutation in a Friedreich's ataxia patient. implications for diagnosis and carrier studies Am. J. Med. Genet. 79:1998;396-399.
-
(1998)
Am. J. Med. Genet.
, vol.79
, pp. 396-399
-
-
Bartolo, C.1
Mendell, J.R.2
Prior, T.W.3
-
48
-
-
0029757676
-
The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia
-
Filla A., Cocozza S.et al. The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia. Am. J. Hum. Genet. 59:1996;554-660.
-
(1996)
Am. J. Hum. Genet.
, vol.59
, pp. 554-660
-
-
Filla, A.1
Cocozza, S.2
-
49
-
-
0030895266
-
Atypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet-repeat expansion
-
Bidichandani S.I., Ashizawa T., Patel P.I. Atypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet-repeat expansion. Am. J. Hum. Genet. 60:1997;1251-1256.
-
(1997)
Am. J. Hum. Genet.
, vol.60
, pp. 1251-1256
-
-
Bidichandani, S.I.1
Ashizawa, T.2
Patel, P.I.3
-
50
-
-
0032129416
-
The correlation of clinical phenotype in Friedreich ataxia with the site of point mutations in FRDA gene
-
Forrest S.M., Nicholson G.et al. The correlation of clinical phenotype in Friedreich ataxia with the site of point mutations in FRDA gene. Neurogenetics. 1:1998;253-257.
-
(1998)
Neurogenetics
, vol.1
, pp. 253-257
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Forrest, S.M.1
Nicholson, G.2
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