-
1
-
-
28844476749
-
Alternative mechanisms of initiating translation of mammalian mRNAs
-
Jackson, R. J. Alternative mechanisms of initiating translation of mammalian mRNAs. Biochem. Soc. Trans. 33, 1231-1241 (2005).
-
(2005)
Biochem. Soc. Trans
, vol.33
, pp. 1231-1241
-
-
Jackson, R.J.1
-
2
-
-
0038487811
-
Poly(A)-binding proteins: Multifunctional scaffolds for the post-transcriptional control of gene expression
-
Mangus, D. A., Evans, M. C. & Jacobson, A. Poly(A)-binding proteins: multifunctional scaffolds for the post-transcriptional control of gene expression. Genome Biol. 4, 223 (2003).
-
(2003)
Genome Biol
, vol.4
, pp. 223
-
-
Mangus, D.A.1
Evans, M.C.2
Jacobson, A.3
-
3
-
-
12344290346
-
Mechanisms of translational control by the 3′ UTR in development and differentiation
-
de Moor, C. H., Meijer, H. & Lissenden, S. Mechanisms of translational control by the 3′ UTR in development and differentiation. Semin. Cell Dev. Biol. 16, 49-58 (2005).
-
(2005)
Semin. Cell Dev. Biol
, vol.16
, pp. 49-58
-
-
de Moor, C.H.1
Meijer, H.2
Lissenden, S.3
-
4
-
-
0034210637
-
Translational pathophysiology: A novel molecular mechanism of human disease
-
Cazzola, M. & Skoda, R. C. Translational pathophysiology: a novel molecular mechanism of human disease. Blood 95, 3280-3288 (2000).
-
(2000)
Blood
, vol.95
, pp. 3280-3288
-
-
Cazzola, M.1
Skoda, R.C.2
-
5
-
-
0036021444
-
Emerging links between initiation of translation and human diseases
-
Kozak, M. Emerging links between initiation of translation and human diseases. Mamm. Genome 13, 401-410 (2002).
-
(2002)
Mamm. Genome
, vol.13
, pp. 401-410
-
-
Kozak, M.1
-
6
-
-
12344281782
-
The implications of structured 5′ untranslated regions on translation and disease
-
Pickering, B. M. & Willis, A. E. The implications of structured 5′ untranslated regions on translation and disease. Semin. Cell Dev. Biol. 16, 39-47 (2005).
-
(2005)
Semin. Cell Dev. Biol
, vol.16
, pp. 39-47
-
-
Pickering, B.M.1
Willis, A.E.2
-
7
-
-
0033956750
-
c-Myc protein synthesis is initiated from the internal ribosome entry segment during apoptosis
-
Stoneley, M. et al. c-Myc protein synthesis is initiated from the internal ribosome entry segment during apoptosis. Mol. Cell. Biol. 20, 1162-1169 (2000).
-
(2000)
Mol. Cell. Biol
, vol.20
, pp. 1162-1169
-
-
Stoneley, M.1
-
8
-
-
0032556949
-
c-myc 5′ untranslated region contains an internal ribosome entry segment
-
Stoneley, M., Paulin, F. E. M., Le Quesne, J. P. C., Chappell, S. A. & Willis, A. E. c-myc 5′ untranslated region contains an internal ribosome entry segment. Oncogene 16, 423-428 (1998).
-
(1998)
Oncogene
, vol.16
, pp. 423-428
-
-
Stoneley, M.1
Paulin, F.E.M.2
Le Quesne, J.P.C.3
Chappell, S.A.4
Willis, A.E.5
-
9
-
-
0032125613
-
A single nucleotide change in the c-myc internal ribosome entry segment leads to enhanced binding of a group of protein factors
-
Paulin, F. E. M., Chappell, S. A. & Willis, A. E. A single nucleotide change in the c-myc internal ribosome entry segment leads to enhanced binding of a group of protein factors. Nucl. Acids Res. 26, 3097-3103 (1998).
-
(1998)
Nucl. Acids Res
, vol.26
, pp. 3097-3103
-
-
Paulin, F.E.M.1
Chappell, S.A.2
Willis, A.E.3
-
10
-
-
0345549480
-
Members of the poly (rC) binding protein family stimulate the activity of the c-myc internal ribosome entry segment in vitro and in vivo
-
Evans, J. R. et al. Members of the poly (rC) binding protein family stimulate the activity of the c-myc internal ribosome entry segment in vitro and in vivo. Oncogene 22, 8012-8020 (2003).
-
(2003)
Oncogene
, vol.22
, pp. 8012-8020
-
-
Evans, J.R.1
-
11
-
-
0034602282
-
Analysis of a Charcot-Marie-Tooth disease mutation reveals an essential internal ribosome entry site element in the connexin-32 gene
-
Hudder, A. & Werner, R. Analysis of a Charcot-Marie-Tooth disease mutation reveals an essential internal ribosome entry site element in the connexin-32 gene. J. Biol. Chem. 275, 34586-34591 (2000).
-
(2000)
J. Biol. Chem
, vol.275
, pp. 34586-34591
-
-
Hudder, A.1
Werner, R.2
-
12
-
-
33646543044
-
-
Yoon, A. et al. Impaired control of IRES-mediated translation in X-linked dyskeratosis congenita. Science 312, 902-906 (2006). A mouse model for X-linked dyskeratosis congenita shows a defect in IRES-mediated translation initiation. Together with reference 14, this paper outlines the discussion about the role of translation in this disease.
-
Yoon, A. et al. Impaired control of IRES-mediated translation in X-linked dyskeratosis congenita. Science 312, 902-906 (2006). A mouse model for X-linked dyskeratosis congenita shows a defect in IRES-mediated translation initiation. Together with reference 14, this paper outlines the discussion about the role of translation in this disease.
-
-
-
-
13
-
-
33745063192
-
Ribosomes and marrow failure: Coincidental association or molecular paradigm?
-
Liu, J. M. & Ellis, S. R. Ribosomes and marrow failure: coincidental association or molecular paradigm? Blood 107, 4583-4588 (2006).
-
(2006)
Blood
, vol.107
, pp. 4583-4588
-
-
Liu, J.M.1
Ellis, S.R.2
-
14
-
-
33751072682
-
-
Wong, J. M. & Collins, K. Telomerase RNA level limits telomere maintenance in X-linked dyskeratosis congenita. Genes Dev. 20, 2848-2858 (2006). This paper shows that telomere defects are the primary cause of X-linked dyskeratosis congenita in patients' cells, while normal levels of rRNA pseudouridine modification and normal kinetics of rRNA precursor processing were observed.
-
Wong, J. M. & Collins, K. Telomerase RNA level limits telomere maintenance in X-linked dyskeratosis congenita. Genes Dev. 20, 2848-2858 (2006). This paper shows that telomere defects are the primary cause of X-linked dyskeratosis congenita in patients' cells, while normal levels of rRNA pseudouridine modification and normal kinetics of rRNA precursor processing were observed.
-
-
-
-
15
-
-
0029857256
-
Severe aplastic anemia including Fanconi's anemia and dyskeratosis congenita
-
Dokal, I. Severe aplastic anemia including Fanconi's anemia and dyskeratosis congenita. Curr. Opin. Hematol. 3, 453-460 (1996).
-
(1996)
Curr. Opin. Hematol
, vol.3
, pp. 453-460
-
-
Dokal, I.1
-
16
-
-
33745516977
-
Dyskeratosis congenita
-
Vulliamy, T. & Dokal, I. Dyskeratosis congenita. Semin. Hematol. 43, 157-166 (2006).
-
(2006)
Semin. Hematol
, vol.43
, pp. 157-166
-
-
Vulliamy, T.1
Dokal, I.2
-
17
-
-
0032900535
-
Mutation of the CDKN2A 5′ UTR creates an aberrant initiation codon and predisposes to melanoma
-
Liu, L. et al. Mutation of the CDKN2A 5′ UTR creates an aberrant initiation codon and predisposes to melanoma. Nature Genet. 21, 128-132 (1999).
-
(1999)
Nature Genet
, vol.21
, pp. 128-132
-
-
Liu, L.1
-
18
-
-
26944446209
-
The tumor suppressor p16(INK4a) prevents cell transformation through inhibition of c-Jun phosphorylation and AP-1 activity
-
Choi, B. Y. et al. The tumor suppressor p16(INK4a) prevents cell transformation through inhibition of c-Jun phosphorylation and AP-1 activity. Nature Struct. Mol. Biol. 12, 699-707 (2005).
-
(2005)
Nature Struct. Mol. Biol
, vol.12
, pp. 699-707
-
-
Choi, B.Y.1
-
19
-
-
0002470681
-
-
eds Sonenberg, N, Hershey, J. W. B. & Mathews, M. B, Cold Spring Harbor Laboratory Press, Cold Spring Harbor
-
Hinnebusch, A. G. in Translational Control of Gene Expression (eds Sonenberg, N., Hershey, J. W. B. & Mathews, M. B.) 185-243 (Cold Spring Harbor Laboratory Press, Cold Spring Harbor, 2000).
-
(2000)
Translational Control of Gene Expression
, pp. 185-243
-
-
Hinnebusch, A.G.1
-
20
-
-
12344305214
-
eIF2 and the control of cell physiology
-
Proud, C. G. eIF2 and the control of cell physiology. Semin. Cell Dev. Biol. 16, 3-12 (2005).
-
(2005)
Semin. Cell Dev. Biol
, vol.16
, pp. 3-12
-
-
Proud, C.G.1
-
21
-
-
0036156978
-
-
Van der Knaap, M. S. et al. Mutations of each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter. Ann. Neurol. 51, 264-270 (2002). eIF2B is the first cytosolic translation initiation factor to be identified as being related to human disease. Despite it essential role in protein synthesis, mutations lead to a severe childhood white matter disorder.
-
Van der Knaap, M. S. et al. Mutations of each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter. Ann. Neurol. 51, 264-270 (2002). eIF2B is the first cytosolic translation initiation factor to be identified as being related to human disease. Despite it essential role in protein synthesis, mutations lead to a severe childhood white matter disorder.
-
-
-
-
22
-
-
0037168792
-
A severe variant of childhood ataxia with central hypomyelination/vanishing white matter leukoencephalopathy related to eIF21B5 mutation
-
Fogli, A. et al. A severe variant of childhood ataxia with central hypomyelination/vanishing white matter leukoencephalopathy related to eIF21B5 mutation. Neurology 59, 1966-1968 (2002).
-
(2002)
Neurology
, vol.59
, pp. 1966-1968
-
-
Fogli, A.1
-
23
-
-
0242522401
-
eIF2B-related disorders: Antenatal onset and involvement of multiple organs
-
Van der Knaap, M. S. et al. eIF2B-related disorders: antenatal onset and involvement of multiple organs. Am. J. Hum. Genet. 73, 1199-1207 (2003).
-
(2003)
Am. J. Hum. Genet
, vol.73
, pp. 1199-1207
-
-
Van der Knaap, M.S.1
-
24
-
-
2342657880
-
The effect of genotype on the natural history of eIF2B-related leukodystrophies
-
Fogli, A. et al. The effect of genotype on the natural history of eIF2B-related leukodystrophies. Neurology 62, 1509-1517 (2004).
-
(2004)
Neurology
, vol.62
, pp. 1509-1517
-
-
Fogli, A.1
-
25
-
-
2342551021
-
Arg113His mutation in eIF2Bepsilon as cause of leukoencephalopathy in adults
-
Van der Knaap, M. S. et al. Arg113His mutation in eIF2Bepsilon as cause of leukoencephalopathy in adults. Neurology 62, 1598-1600 (2004).
-
(2004)
Neurology
, vol.62
, pp. 1598-1600
-
-
Van der Knaap, M.S.1
-
26
-
-
0034764190
-
Adult-onset leukoencephalopathy with vanishing white matter presenting with dementia
-
Prass, K. et al. Adult-onset leukoencephalopathy with vanishing white matter presenting with dementia. Ann. Neurol. 50, 665-668 (2001).
-
(2001)
Ann. Neurol
, vol.50
, pp. 665-668
-
-
Prass, K.1
-
27
-
-
4043171216
-
Decreased guanine nucleotide exchange factor activity in eIF2B-mutated patients
-
Fogli, A. et al. Decreased guanine nucleotide exchange factor activity in eIF2B-mutated patients. Eur. J. Hum. Genet. 12, 561-566 (2004).
-
(2004)
Eur. J. Hum. Genet
, vol.12
, pp. 561-566
-
-
Fogli, A.1
-
28
-
-
33244482231
-
Regulation of protein synthesis in lymphoblasts from vanishing white matter patients
-
van Kollenburg. B. et al. Regulation of protein synthesis in lymphoblasts from vanishing white matter patients. Neurobiol. Dis. 21, 496-504 (2006).
-
(2006)
Neurobiol. Dis
, vol.21
, pp. 496-504
-
-
van Kollenburg, B.1
-
29
-
-
33646068185
-
Heightened stress response in primary fibroblasts expressing mutant eIF2B genes from CACH/VWM leukodystrophy patients
-
Kantor, L. et al. Heightened stress response in primary fibroblasts expressing mutant eIF2B genes from CACH/VWM leukodystrophy patients. Hum. Genet. 118, 99-106 (2005).
-
(2005)
Hum. Genet
, vol.118
, pp. 99-106
-
-
Kantor, L.1
-
30
-
-
24644488688
-
The unfolded protein response in vanishing white matter disease
-
Van der Voorn, J. P. et al. The unfolded protein response in vanishing white matter disease. J. Neuropathol. Exp. Neurol. 64, 770-775 (2005).
-
(2005)
J. Neuropathol. Exp. Neurol
, vol.64
, pp. 770-775
-
-
Van der Voorn, J.P.1
-
31
-
-
33747816491
-
Glia-specific activation of all pathways of the unfolded protein response in vanishing white matter disease
-
van Kollenburg, B. et al. Glia-specific activation of all pathways of the unfolded protein response in vanishing white matter disease. J. Neuropathol. Exp. Neurol. 65, 707-715 (2006).
-
(2006)
J. Neuropathol. Exp. Neurol
, vol.65
, pp. 707-715
-
-
van Kollenburg, B.1
-
32
-
-
0035144493
-
Gadd153 sensitizes cells to endoplasmic reticulum stress by down-regulating BCL2 and perturbing the cellular redox state
-
McCullough, K. D., Martindale, J. L., Klotz, L. O., Aw, T. Y. & Holbrook, N. J. Gadd153 sensitizes cells to endoplasmic reticulum stress by down-regulating BCL2 and perturbing the cellular redox state. Mol. Cell. Biol. 21, 1249-1259 (2001).
-
(2001)
Mol. Cell. Biol
, vol.21
, pp. 1249-1259
-
-
McCullough, K.D.1
Martindale, J.L.2
Klotz, L.O.3
Aw, T.Y.4
Holbrook, N.J.5
-
33
-
-
33646042221
-
Defective translation initiation causes vanishing of cerebral white matter
-
Scheper, G. C., Proud, C. G. & Van der Knaap, M. S. Defective translation initiation causes vanishing of cerebral white matter. Trends Mol. Med. 12, 159-166 (2006).
-
(2006)
Trends Mol. Med
, vol.12
, pp. 159-166
-
-
Scheper, G.C.1
Proud, C.G.2
Van der Knaap, M.S.3
-
34
-
-
33646043141
-
Childhood ataxia with CNS hypomyelination/vanishing white matter disease - a common leukodystrophy caused by abnormal control of protein synthesis
-
Schiffmann, R. & Elroy-Stein, O. Childhood ataxia with CNS hypomyelination/vanishing white matter disease - a common leukodystrophy caused by abnormal control of protein synthesis. Mol. Genet. Metab. 88, 7-15 (2006).
-
(2006)
Mol. Genet. Metab
, vol.88
, pp. 7-15
-
-
Schiffmann, R.1
Elroy-Stein, O.2
-
35
-
-
3042696843
-
Wolcott-Rallison syndrome: Clinical, genetic, and functional study of EIF2AK3 mutations and suggestion of genetic heterogeneity
-
Senee, V. et al. Wolcott-Rallison syndrome: clinical, genetic, and functional study of EIF2AK3 mutations and suggestion of genetic heterogeneity. Diabetes 53, 1876-1883 (2004).
-
(2004)
Diabetes
, vol.53
, pp. 1876-1883
-
-
Senee, V.1
-
36
-
-
0034973982
-
Translational control is required for the unfolded protein response and in vivo glucose homeostasis
-
Scheuner, D. et al. Translational control is required for the unfolded protein response and in vivo glucose homeostasis. Mol. Cell 7, 1165-1176 (2001).
-
(2001)
Mol. Cell
, vol.7
, pp. 1165-1176
-
-
Scheuner, D.1
-
37
-
-
0036091476
-
The PERK eukaryotic initiation factor 2α kinase is required for the development of the skeletal system, postnatal growth, and the function and viability of the pancreas
-
Zhang, P. et al. The PERK eukaryotic initiation factor 2α kinase is required for the development of the skeletal system, postnatal growth, and the function and viability of the pancreas. Mol. Cell. Biol. 22, 3864-3874 (2002).
-
(2002)
Mol. Cell. Biol
, vol.22
, pp. 3864-3874
-
-
Zhang, P.1
-
38
-
-
33751430251
-
-
Zhang, W. et al. PERK EIF2AK3 control of pancreatic β cell differentiation and proliferation is required for postnatal glucose homeostasis. Cell Metab. 4, 491-497 (2006). This paper shows that PERK is specifically required in the insulin-secreting β-cells during the fetal and early neonatal period, and not during adult stages, for postnatal glucose homeostasis.
-
Zhang, W. et al. PERK EIF2AK3 control of pancreatic β cell differentiation and proliferation is required for postnatal glucose homeostasis. Cell Metab. 4, 491-497 (2006). This paper shows that PERK is specifically required in the insulin-secreting β-cells during the fetal and early neonatal period, and not during adult stages, for postnatal glucose homeostasis.
-
-
-
-
39
-
-
0032515985
-
The lethal mutation of the mouse wasted (wst) is a deletion that abolishes expression of a tissue-specific isoform of translation elongation factor 1α, encoded by the Eef1a2 gene
-
Chambers, D. M., Peters, J. & Abbott, C. M. The lethal mutation of the mouse wasted (wst) is a deletion that abolishes expression of a tissue-specific isoform of translation elongation factor 1α, encoded by the Eef1a2 gene. Proc. Natl Acad. Sci. USA 95, 4463-4468 (1998).
-
(1998)
Proc. Natl Acad. Sci. USA
, vol.95
, pp. 4463-4468
-
-
Chambers, D.M.1
Peters, J.2
Abbott, C.M.3
-
40
-
-
0035933750
-
Characterization of elongation factor-1A (eEF1A-1) and eEF1A-2/S1 protein expression in normal and wasted mice
-
Khalyfa, A. et al. Characterization of elongation factor-1A (eEF1A-1) and eEF1A-2/S1 protein expression in normal and wasted mice. J. Biol. Chem. 276, 22915-22922 (2001).
-
(2001)
J. Biol. Chem
, vol.276
, pp. 22915-22922
-
-
Khalyfa, A.1
-
41
-
-
33846450656
-
Mouse translation elongation factor eEF1A-2 interacts with Prdx-I to protect cells against apoptotic death induced by oxidative stress
-
Chang, R. & Wang, E. Mouse translation elongation factor eEF1A-2 interacts with Prdx-I to protect cells against apoptotic death induced by oxidative stress. J. Cell Biochem. 100, 267-278 (2007).
-
(2007)
J. Cell Biochem
, vol.100
, pp. 267-278
-
-
Chang, R.1
Wang, E.2
-
42
-
-
27944502155
-
Polyglycine expansions in eRF3/GSPT1 are associated with gastric cancer susceptibility
-
Brito, M. et al. Polyglycine expansions in eRF3/GSPT1 are associated with gastric cancer susceptibility. Carcinogenesis 26, 2046-2049 (2005).
-
(2005)
Carcinogenesis
, vol.26
, pp. 2046-2049
-
-
Brito, M.1
-
43
-
-
20444481473
-
Differential expression of the eukaryotic release factor 3 (eRF3/GSPT1) according to gastric cancer histological types
-
Malta-Vacas, J. et al. Differential expression of the eukaryotic release factor 3 (eRF3/GSPT1) according to gastric cancer histological types. J. Clin. Pathol. 58, 621-625 (2005).
-
(2005)
J. Clin. Pathol
, vol.58
, pp. 621-625
-
-
Malta-Vacas, J.1
-
44
-
-
7444230353
-
Pharmacologic therapy for stop mutations: How much CFTR activity is enough?
-
Kerem, E. Pharmacologic therapy for stop mutations: how much CFTR activity is enough? Curr. Opin. Pulm. Med. 10, 547-552 (2004).
-
(2004)
Curr. Opin. Pulm. Med
, vol.10
, pp. 547-552
-
-
Kerem, E.1
-
45
-
-
34247588271
-
-
Welch, E. M. et al. PTC124 targets genetic disorders caused by nonsense mutations. Nature 447, 87-91 (2007). The development of PTC124 as a possible treatment for diseases caused by nonsense mutations shows the important benefits of fundamental research on protein synthesis.
-
Welch, E. M. et al. PTC124 targets genetic disorders caused by nonsense mutations. Nature 447, 87-91 (2007). The development of PTC124 as a possible treatment for diseases caused by nonsense mutations shows the important benefits of fundamental research on protein synthesis.
-
-
-
-
46
-
-
0032907438
-
The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia
-
Draptchinskaia, N. et al. The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia. Nature Genet. 21, 169-175 (1999).
-
(1999)
Nature Genet
, vol.21
, pp. 169-175
-
-
Draptchinskaia, N.1
-
47
-
-
33748744175
-
Defective ribosomal protein gene expression alters transcription, translation, apoptosis, and oncogenic pathways in Diamond-Blackfan anemia
-
Gazda, H. T. et al. Defective ribosomal protein gene expression alters transcription, translation, apoptosis, and oncogenic pathways in Diamond-Blackfan anemia. Stem Cells 24, 2034-2044 (2006).
-
(2006)
Stem Cells
, vol.24
, pp. 2034-2044
-
-
Gazda, H.T.1
-
48
-
-
33846867954
-
Human RPS19, the gene mutated in Diamond-Blackfan anemia, encodes a ribosomal protein required for the maturation of 40S ribosomal subunits
-
Flygare, J. et al. Human RPS19, the gene mutated in Diamond-Blackfan anemia, encodes a ribosomal protein required for the maturation of 40S ribosomal subunits. Blood 109, 980-986 (2007).
-
(2007)
Blood
, vol.109
, pp. 980-986
-
-
Flygare, J.1
-
49
-
-
33846873892
-
Impaired ribosome biogenesis in Diamond-Blackfan anemia
-
Choesmel, V. et al. Impaired ribosome biogenesis in Diamond-Blackfan anemia. Blood 109, 1275-1283 (2007).
-
(2007)
Blood
, vol.109
, pp. 1275-1283
-
-
Choesmel, V.1
-
50
-
-
33745676624
-
Reduced gene expression of clustered ribosomal proteins in Diamond-Blackfan anemia patients without RPS19 gene mutations
-
Koga, Y., Ohga, S., Nomura, A., Takada, H. & Hara, T. Reduced gene expression of clustered ribosomal proteins in Diamond-Blackfan anemia patients without RPS19 gene mutations. J. Pediatr. Hematol. Oncol. 28, 355-361 (2006).
-
(2006)
J. Pediatr. Hematol. Oncol
, vol.28
, pp. 355-361
-
-
Koga, Y.1
Ohga, S.2
Nomura, A.3
Takada, H.4
Hara, T.5
-
51
-
-
0024280032
-
Identification of proteins of the 40S ribosomal subunit involved in interaction with initiation factor eIF-2 in the quaternary initiation complex by means of monospecific antibodies
-
Bommer, U. A., Stahl, J., Henske, A., Lutsch, G. & Bielka, H. Identification of proteins of the 40S ribosomal subunit involved in interaction with initiation factor eIF-2 in the quaternary initiation complex by means of monospecific antibodies. FEBS Lett. 233, 114-118 (1988).
-
(1988)
FEBS Lett
, vol.233
, pp. 114-118
-
-
Bommer, U.A.1
Stahl, J.2
Henske, A.3
Lutsch, G.4
Bielka, H.5
-
52
-
-
34047182008
-
The Shwachman-Bodian-Diamond syndrome protein mediates translational activation of ribosomes in yeast
-
Menne, T. F. et al. The Shwachman-Bodian-Diamond syndrome protein mediates translational activation of ribosomes in yeast. Nature Genet. 39, 486-495 (2007).
-
(2007)
Nature Genet
, vol.39
, pp. 486-495
-
-
Menne, T.F.1
-
53
-
-
27244453149
-
Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator
-
Thiel, C. T. et al. Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator. Am. J. Hum. Genet. 77, 795-806 (2005).
-
(2005)
Am. J. Hum. Genet
, vol.77
, pp. 795-806
-
-
Thiel, C.T.1
-
54
-
-
0035960043
-
The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita
-
Vulliamy, T. et al. The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita. Nature 413, 432-435 (2001).
-
(2001)
Nature
, vol.413
, pp. 432-435
-
-
Vulliamy, T.1
-
55
-
-
34447307404
-
Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10
-
Walne, A. J. et al. Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10. Hum. Mol. Genet. 16, 1619-1629 (2007).
-
(2007)
Hum. Mol. Genet
, vol.16
, pp. 1619-1629
-
-
Walne, A.J.1
-
56
-
-
34548036289
-
-
Morimoto, K., Lin, S. & Sakamoto, K. The functions of RPS19 and their relationship to Diamond-Blackfan anemia: a review. Mol. Genet. Metab. 90, 538-562 (2006). A review describing the functions of RPS19, the first ribosomal protein to be found to be related to human disease.
-
Morimoto, K., Lin, S. & Sakamoto, K. The functions of RPS19 and their relationship to Diamond-Blackfan anemia: a review. Mol. Genet. Metab. 90, 538-562 (2006). A review describing the functions of RPS19, the first ribosomal protein to be found to be related to human disease.
-
-
-
-
57
-
-
20044392682
-
Evidence that the mitochondrial leucyl tRNA synthetase (LARS2) gene represents a novel type 2 diabetes susceptibility gene
-
't Hart, L. M. et al. Evidence that the mitochondrial leucyl tRNA synthetase (LARS2) gene represents a novel type 2 diabetes susceptibility gene. Diabetes 54, 1892-1895 (2005).
-
(2005)
Diabetes
, vol.54
, pp. 1892-1895
-
-
't Hart, L.M.1
-
58
-
-
31744448271
-
Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy
-
Jordanova, A. et al. Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy. Nature Genet. 38, 197-202 (2006).
-
(2006)
Nature Genet
, vol.38
, pp. 197-202
-
-
Jordanova, A.1
-
59
-
-
33745664558
-
The G526R glycyl-tRNA synthetase gene mutation in distal hereditary motor neuropathy type V
-
Dubourg, O. et al. The G526R glycyl-tRNA synthetase gene mutation in distal hereditary motor neuropathy type V. Neurology 66, 1721-1726 (2006).
-
(2006)
Neurology
, vol.66
, pp. 1721-1726
-
-
Dubourg, O.1
-
60
-
-
0038067742
-
-
Antonellis, A. et al. Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. Am. J. Hum. Genet. 72, 1293-1299 (2003). The first report of a link between mutations in amino-acyl-tRNA synthetase genes and human disease.
-
Antonellis, A. et al. Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. Am. J. Hum. Genet. 72, 1293-1299 (2003). The first report of a link between mutations in amino-acyl-tRNA synthetase genes and human disease.
-
-
-
-
61
-
-
33748545328
-
An active dominant mutation of glycyl-tRNA synthetase causes neuropathy in a Charcot-Marie-Tooth 2D mouse model
-
Seburn, K. L., Nangle, L. A., Cox, G. A., Schimmel, P. & Burgess, R. W. An active dominant mutation of glycyl-tRNA synthetase causes neuropathy in a Charcot-Marie-Tooth 2D mouse model. Neuron 51, 715-726 (2006).
-
(2006)
Neuron
, vol.51
, pp. 715-726
-
-
Seburn, K.L.1
Nangle, L.A.2
Cox, G.A.3
Schimmel, P.4
Burgess, R.W.5
-
62
-
-
33748432548
-
Editing-defective tRNA synthetase causes protein misfolding and neurodegeneration
-
Lee, J. W. et al. Editing-defective tRNA synthetase causes protein misfolding and neurodegeneration. Nature 443, 50-55 (2006).
-
(2006)
Nature
, vol.443
, pp. 50-55
-
-
Lee, J.W.1
-
63
-
-
0035237310
-
Protein folding and its links with human disease
-
Dobson, C. M. Protein folding and its links with human disease. Biochem. Soc. Symp. 68, 1-26 (2001).
-
(2001)
Biochem. Soc. Symp
, vol.68
, pp. 1-26
-
-
Dobson, C.M.1
-
64
-
-
25844487226
-
Diseases of unstable repeat expansion: Mechanisms and common principles
-
Gatchel, J. R. & Zoghbi, H. Y. Diseases of unstable repeat expansion: mechanisms and common principles. Nature Rev. Genet. 6, 743-755 (2005).
-
(2005)
Nature Rev. Genet
, vol.6
, pp. 743-755
-
-
Gatchel, J.R.1
Zoghbi, H.Y.2
-
65
-
-
25144489447
-
-
Park, S. G., Ewalt, K. L. & Kim, S. Functional expansion of aminoacyl-tRNA synthetases and their interacting factors: new perspectives on housekeepers. Trends Biochem. Sci. 30, 569-574 (2005). A review describing additional roles of amino-acyl-tRNA synthetases in a wide variety of functions different from amino acylation, illustrating the additional roles of translation factors.
-
Park, S. G., Ewalt, K. L. & Kim, S. Functional expansion of aminoacyl-tRNA synthetases and their interacting factors: new perspectives on housekeepers. Trends Biochem. Sci. 30, 569-574 (2005). A review describing additional roles of amino-acyl-tRNA synthetases in a wide variety of functions different from amino acylation, illustrating the additional roles of translation factors.
-
-
-
-
66
-
-
17744393686
-
Mitochondrial DNA mutations in human disease
-
Taylor, R. W. & Turnbull, D. M. Mitochondrial DNA mutations in human disease. Nature Rev. Genet. 6, 389-402 (2005).
-
(2005)
Nature Rev. Genet
, vol.6
, pp. 389-402
-
-
Taylor, R.W.1
Turnbull, D.M.2
-
67
-
-
42449111084
-
-
eds Mathews, M. B, Sonenberg, N. & Hershey, J. W. B, Cold Spring Harbor Laboratory Press, Cold Spring Harbor
-
Shoubridge, E. A. & Sasarman, F. in Translational Control in Biology and Medicine (eds Mathews, M. B., Sonenberg, N. & Hershey, J. W. B.) 775-801 (Cold Spring Harbor Laboratory Press, Cold Spring Harbor, 2006).
-
(2006)
Translational Control in Biology and Medicine
, pp. 775-801
-
-
Shoubridge, E.A.1
Sasarman, F.2
-
68
-
-
33745410626
-
Mitochondrial disease
-
Schapira, A. H. Mitochondrial disease. Lancet 368, 70-82 (2006).
-
(2006)
Lancet
, vol.368
, pp. 70-82
-
-
Schapira, A.H.1
-
69
-
-
33746947313
-
Lactic acidemia and mitochondrial disease
-
Robinson, B. H. Lactic acidemia and mitochondrial disease. Mol. Genet. Metab. 89, 3-13 (2006).
-
(2006)
Mol. Genet. Metab
, vol.89
, pp. 3-13
-
-
Robinson, B.H.1
-
70
-
-
33748377123
-
Central nervous system manifestations of mitochondrial disorders
-
Finsterer, J. Central nervous system manifestations of mitochondrial disorders. Acta Neurol. Scand. 114, 217-238 (2006).
-
(2006)
Acta Neurol. Scand
, vol.114
, pp. 217-238
-
-
Finsterer, J.1
-
71
-
-
33750216506
-
Mitochondrial myopathies
-
DiMauro, S. Mitochondrial myopathies. Curr. Opin. Rheumatol. 18, 636-641 (2006).
-
(2006)
Curr. Opin. Rheumatol
, vol.18
, pp. 636-641
-
-
DiMauro, S.1
-
72
-
-
19444380425
-
Nuclear genes and mitochondrial translation: A new class of genetic disease
-
Jacobs, H. T. & Turnbull, D. M. Nuclear genes and mitochondrial translation: a new class of genetic disease. Trends Genet. 21, 312-314 (2005).
-
(2005)
Trends Genet
, vol.21
, pp. 312-314
-
-
Jacobs, H.T.1
Turnbull, D.M.2
-
73
-
-
6344221310
-
-
Leu(UUR).
-
Leu(UUR).
-
-
-
-
74
-
-
0037417764
-
The pathogenic A3243G mutation in human mitochondrial tRNALeu(UUR) decreases the efficiency of aminoacylation
-
Park, H., Davidson, E. & King, M. P. The pathogenic A3243G mutation in human mitochondrial tRNALeu(UUR) decreases the efficiency of aminoacylation. Biochemistry 42, 958-964 (2003).
-
(2003)
Biochemistry
, vol.42
, pp. 958-964
-
-
Park, H.1
Davidson, E.2
King, M.P.3
-
75
-
-
0037011177
-
Taurine as a constituent of mitochondrial tRNAs: New insights into the functions of taurine and human mitochondrial diseases
-
Suzuki, T., Suzuki, T., Wada, T., Saigo, K. & Watanabe, K. Taurine as a constituent of mitochondrial tRNAs: new insights into the functions of taurine and human mitochondrial diseases. EMBO J. 21, 6581-6589 (2002).
-
(2002)
EMBO J
, vol.21
, pp. 6581-6589
-
-
Suzuki, T.1
Suzuki, T.2
Wada, T.3
Saigo, K.4
Watanabe, K.5
-
76
-
-
0342470992
-
Decreased aminoacylation of mutant tRNAs in MELAS but not in MERRF patients
-
Borner, G. V. et al. Decreased aminoacylation of mutant tRNAs in MELAS but not in MERRF patients. Hum. Mol. Genet. 9, 467-475 (2000).
-
(2000)
Hum. Mol. Genet
, vol.9
, pp. 467-475
-
-
Borner, G.V.1
-
77
-
-
0025368281
-
Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation
-
Shoffner, J. M. et al. Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation. Cell 61, 931-937 (1990).
-
(1990)
Cell
, vol.61
, pp. 931-937
-
-
Shoffner, J.M.1
-
78
-
-
0029059067
-
mtDNA mutation in MERRF syndrome causes defective aminoacylation of tRNA(Lys) and premature translation termination
-
Enriquez, J. A., Chomyn, A. & Attardi, G. mtDNA mutation in MERRF syndrome causes defective aminoacylation of tRNA(Lys) and premature translation termination. Nature Genet. 10, 47-55 (1995).
-
(1995)
Nature Genet
, vol.10
, pp. 47-55
-
-
Enriquez, J.A.1
Chomyn, A.2
Attardi, G.3
-
79
-
-
0034747856
-
An mtDNA mutation, 14453G > A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome
-
Ravn, K. et al. An mtDNA mutation, 14453G > A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome. Eur. J. Hum. Genet. 9, 805-809 (2001).
-
(2001)
Eur. J. Hum. Genet
, vol.9
, pp. 805-809
-
-
Ravn, K.1
-
81
-
-
2442691791
-
Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA)
-
Bykhovskaya, Y., Casas, K., Mengesha, E., Inbal, A. & Fischel-Ghodsian, N. Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA). Am. J. Hum. Genet. 74, 1303-1308 (2004).
-
(2004)
Am. J. Hum. Genet
, vol.74
, pp. 1303-1308
-
-
Bykhovskaya, Y.1
Casas, K.2
Mengesha, E.3
Inbal, A.4
Fischel-Ghodsian, N.5
-
82
-
-
0037307897
-
A new leukoencephalopathy with brainstem and spinal cord involvement and high lactate
-
Van der Knaap, M. S. et al. A new leukoencephalopathy with brainstem and spinal cord involvement and high lactate. Ann. Neurol. 53, 252-258 (2003).
-
(2003)
Ann. Neurol
, vol.53
, pp. 252-258
-
-
Van der Knaap, M.S.1
-
83
-
-
34047109743
-
Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
-
Scheper, G. C. et al. Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation. Nature Genet. 39, 534-539 (2007).
-
(2007)
Nature Genet
, vol.39
, pp. 534-539
-
-
Scheper, G.C.1
-
84
-
-
24344481620
-
A mitochondrial tRNA aspartate mutation causing isolated mitochondrial myopathy
-
Seneca, S. et al. A mitochondrial tRNA aspartate mutation causing isolated mitochondrial myopathy. Am. J. Med. Genet. A 137, 170-175 (2005).
-
(2005)
Am. J. Med. Genet. A
, vol.137
, pp. 170-175
-
-
Seneca, S.1
-
85
-
-
9144268494
-
Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation
-
Miller, C. et al. Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation. Ann. Neurol. 56, 734-738 (2004).
-
(2004)
Ann. Neurol
, vol.56
, pp. 734-738
-
-
Miller, C.1
-
86
-
-
23644454808
-
Nuclear MRP genes and mitochondrial disease
-
O'Brien, T. W., O'Brien, B. J. & Norman, R. A. Nuclear MRP genes and mitochondrial disease. Gene 354, 147-151 (2005).
-
(2005)
Gene
, vol.354
, pp. 147-151
-
-
O'Brien, T.W.1
O'Brien, B.J.2
Norman, R.A.3
-
87
-
-
26844484821
-
The m-AAA protease defective in hereditary spastic paraplegia controls ribosome assembly in mitochondria
-
Nolden, M. et al. The m-AAA protease defective in hereditary spastic paraplegia controls ribosome assembly in mitochondria. Cell 123, 277-289 (2005).
-
(2005)
Cell
, vol.123
, pp. 277-289
-
-
Nolden, M.1
-
88
-
-
33846127778
-
Variable and tissue-specific subunit composition of mitochondrial m-AAA protease complexes linked to hereditary spastic paraplegia
-
Koppen, M., Metodiev, M. D., Casari, G., Rugarli, E. I. & Langer, T. Variable and tissue-specific subunit composition of mitochondrial m-AAA protease complexes linked to hereditary spastic paraplegia. Mol. Cell. Biol. 27, 758-767 (2007).
-
(2007)
Mol. Cell. Biol
, vol.27
, pp. 758-767
-
-
Koppen, M.1
Metodiev, M.D.2
Casari, G.3
Rugarli, E.I.4
Langer, T.5
-
89
-
-
33846006253
-
Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu
-
Valente, L. et al. Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu. Am. J. Hum. Genet. 80, 44-58 (2007).
-
(2007)
Am. J. Hum. Genet
, vol.80
, pp. 44-58
-
-
Valente, L.1
-
90
-
-
33751085653
-
Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs
-
Smeitink, J. A. et al. Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs. Am. J. Hum. Genet. 79, 869-877 (2006).
-
(2006)
Am. J. Hum. Genet
, vol.79
, pp. 869-877
-
-
Smeitink, J.A.1
-
91
-
-
8344259033
-
-
Coenen, M. J. et al. Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency. N. Engl. J. Med. 351, 2080-2086 (2004). This elegant study, which used complementation of the mitochondrial defect in patient fibroblasts, led to the discovery of the first nuclear-encoded translation factor known to be involved in mitochondrial disease.
-
Coenen, M. J. et al. Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency. N. Engl. J. Med. 351, 2080-2086 (2004). This elegant study, which used complementation of the mitochondrial defect in patient fibroblasts, led to the discovery of the first nuclear-encoded translation factor known to be involved in mitochondrial disease.
-
-
-
-
92
-
-
33744752749
-
The molecular basis for tissue specificity of the oxidative phosphorylation deficiencies in patients with mutations in the mitochondrial translation factor EFG1
-
Antonicka, H., Sasarman, F., Kennaway, N. G. & Shoubridge, E. A. The molecular basis for tissue specificity of the oxidative phosphorylation deficiencies in patients with mutations in the mitochondrial translation factor EFG1. Hum. Mol. Genet. 15, 1835-1846 (2006).
-
(2006)
Hum. Mol. Genet
, vol.15
, pp. 1835-1846
-
-
Antonicka, H.1
Sasarman, F.2
Kennaway, N.G.3
Shoubridge, E.A.4
-
93
-
-
0037972522
-
Mitochondrial respiratory-chain diseases
-
DiMauro, S. & Schon, E. A. Mitochondrial respiratory-chain diseases. N. Engl. J. Med. 348, 2656-2668 (2003).
-
(2003)
N. Engl. J. Med
, vol.348
, pp. 2656-2668
-
-
DiMauro, S.1
Schon, E.A.2
-
94
-
-
0035474099
-
Nuclear genetic defects of oxidative phosphorylation
-
Shoubridge, E. A. Nuclear genetic defects of oxidative phosphorylation. Hum. Mol. Genet. 10, 2277-2284 (2001).
-
(2001)
Hum. Mol. Genet
, vol.10
, pp. 2277-2284
-
-
Shoubridge, E.A.1
-
95
-
-
34347346696
-
Multiregional gene expression profiling identifies MRPS6 as a possible candidate gene for Parkinson's disease
-
Papapetropoulos, S. et al. Multiregional gene expression profiling identifies MRPS6 as a possible candidate gene for Parkinson's disease. Gene Expr. 13, 205-215 (2006).
-
(2006)
Gene Expr
, vol.13
, pp. 205-215
-
-
Papapetropoulos, S.1
-
96
-
-
33646236099
-
Genetic basis of Alzheimer's dementia: Role of mtDNA mutations
-
Grazina, M. et al. Genetic basis of Alzheimer's dementia: role of mtDNA mutations. Genes Brain Behav. 5, S92-S107 (2006).
-
(2006)
Genes Brain Behav
, vol.5
-
-
Grazina, M.1
-
97
-
-
0037166303
-
The protein kinase/endoribonuclease IRE1α that signals the unfolded protein response has a luminal N-terminal ligand-independent dimerization domain
-
Liu, C. Y., Wong, H. N., Schauerte, J. A. & Kaufman, R. J. The protein kinase/endoribonuclease IRE1α that signals the unfolded protein response has a luminal N-terminal ligand-independent dimerization domain. J. Biol. Chem. 277, 18346-18356 (2002).
-
(2002)
J. Biol. Chem
, vol.277
, pp. 18346-18356
-
-
Liu, C.Y.1
Wong, H.N.2
Schauerte, J.A.3
Kaufman, R.J.4
-
98
-
-
32544446451
-
Coping with stress: EIF2 kinases and translational control
-
Wek, R. C., Jiang, H. Y. & Anthony, T. G. Coping with stress: eIF2 kinases and translational control. Biochem. Soc. Trans. 34, 7-11 (2006).
-
(2006)
Biochem. Soc. Trans
, vol.34
, pp. 7-11
-
-
Wek, R.C.1
Jiang, H.Y.2
Anthony, T.G.3
-
99
-
-
0033634654
-
Regulated translation initiation controls stress-induced gene expression in mammalian cells
-
Harding, H. P. et al. Regulated translation initiation controls stress-induced gene expression in mammalian cells. Mol. Cell 6, 1099-1108 (2000).
-
(2000)
Mol. Cell
, vol.6
, pp. 1099-1108
-
-
Harding, H.P.1
-
100
-
-
33845528829
-
-
Jeppesen, T. D. et al. Muscle phenotype and mutation load in 51 persons with the 3243A > G mitochondrial DNA mutation. Arch. Neurol. 63, 1701-1706 (2006). This study, involving 51 patients with the same mutation but a wide spectrum of clinical severity, establishes the correlation between muscle genotype and clinical phenotype in MELAS.
-
Jeppesen, T. D. et al. Muscle phenotype and mutation load in 51 persons with the 3243A > G mitochondrial DNA mutation. Arch. Neurol. 63, 1701-1706 (2006). This study, involving 51 patients with the same mutation but a wide spectrum of clinical severity, establishes the correlation between muscle genotype and clinical phenotype in MELAS.
-
-
-
-
101
-
-
33947244818
-
-
eds Mathews, M. B, Sonenberg, N. & Hershey, J. W. B, Cold Spring Harbor Laboratory Press, Cold Spring Harbor
-
Ehrenberg, M., Hauryliuk, V., Crist, C. G. & Nakamura, Y. in Translational Control in Biology and Medicine (eds Mathews, M. B., Sonenberg, N. & Hershey, J. W. B.) 173-196 (Cold Spring Harbor Laboratory Press, Cold Spring Harbor, 2006).
-
(2006)
Translational Control in Biology and Medicine
, pp. 173-196
-
-
Ehrenberg, M.1
Hauryliuk, V.2
Crist, C.G.3
Nakamura, Y.4
-
102
-
-
18344386777
-
Subunits of the translation initiation factor eIF2B are mutated in leukoencephaly with vanishing white matter
-
Leegwater, P. A. J. et al. Subunits of the translation initiation factor eIF2B are mutated in leukoencephaly with vanishing white matter. Nature Genetics 29, 383-388 (2001).
-
(2001)
Nature Genetics
, vol.29
, pp. 383-388
-
-
Leegwater, P.A.J.1
-
103
-
-
0034425698
-
eIF2AK3, encoding translation initiation factor 2-α kinase 3, is mutated in patients with Wolcott-Rallison syndrome
-
Delepine, M. et al. eIF2AK3, encoding translation initiation factor 2-α kinase 3, is mutated in patients with Wolcott-Rallison syndrome. Nature Genet. 25, 406-409 (2000).
-
(2000)
Nature Genet
, vol.25
, pp. 406-409
-
-
Delepine, M.1
-
104
-
-
0028817474
-
Myopathy, lactic acidosis, and sideroblastic anemia: A new syndrome
-
Inbal, A. et al. Myopathy, lactic acidosis, and sideroblastic anemia: a new syndrome. Am. J. Med. Genet. 55, 372-378 (1995).
-
(1995)
Am. J. Med. Genet
, vol.55
, pp. 372-378
-
-
Inbal, A.1
-
105
-
-
0031799895
-
X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions
-
Heiss, N. S. et al. X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions. Nature Genet. 19, 32-38 (1998).
-
(1998)
Nature Genet
, vol.19
, pp. 32-38
-
-
Heiss, N.S.1
-
106
-
-
0037229094
-
Mutations in SBDS are associated with Shwachman-Diamond syndrome
-
Boocock, G. R. et al. Mutations in SBDS are associated with Shwachman-Diamond syndrome. Nature Genet. 33, 97-101 (2003).
-
(2003)
Nature Genet
, vol.33
, pp. 97-101
-
-
Boocock, G.R.1
-
107
-
-
17744393618
-
Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia
-
Ridanpaa, M. et al. Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia. Cell 104, 195-203 (2001).
-
(2001)
Cell
, vol.104
, pp. 195-203
-
-
Ridanpaa, M.1
-
108
-
-
0032511186
-
Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease
-
Casari, G. et al. Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Cell 93, 973-983 (1998).
-
(1998)
Cell
, vol.93
, pp. 973-983
-
-
Casari, G.1
-
109
-
-
0034968330
-
-/- mice reveals a role for translational control in secretory cell survival
-
-/- mice reveals a role for translational control in secretory cell survival. Mol. Cell 7, 1153-1163 (2001).
-
(2001)
Mol. Cell
, vol.7
, pp. 1153-1163
-
-
Harding, H.P.1
-
110
-
-
33846602706
-
The GCN2 eIF2α kinase regulates fatty-acid homeostasis in the liver during deprivation of an essential amino acid
-
Guo, F. & Cavener, D. R. The GCN2 eIF2α kinase regulates fatty-acid homeostasis in the liver during deprivation of an essential amino acid. Cell Metab. 5, 103-114 (2007).
-
(2007)
Cell Metab
, vol.5
, pp. 103-114
-
-
Guo, F.1
Cavener, D.R.2
-
111
-
-
17944362905
-
Heme-regulated eIF2α kinase (HRI) is required for translational regulation and survival of erythroid precursors in iron deficiency
-
Han, A. P. et al. Heme-regulated eIF2α kinase (HRI) is required for translational regulation and survival of erythroid precursors in iron deficiency. EMBO J. 20, 6909-6918 (2001).
-
(2001)
EMBO J
, vol.20
, pp. 6909-6918
-
-
Han, A.P.1
-
112
-
-
33846806078
-
Elevated sensitivity to diet-induced obesity and insulin resistance in mice lacking 4E-BP1 and 4E-BP2
-
Le Bacquer, O. et al. Elevated sensitivity to diet-induced obesity and insulin resistance in mice lacking 4E-BP1 and 4E-BP2. J. Clin. Invest. 117, 387-396 (2007).
-
(2007)
J. Clin. Invest
, vol.117
, pp. 387-396
-
-
Le Bacquer, O.1
-
113
-
-
22544444513
-
Control of mRNA translation preserves endoplasmic reticulum function in β cells and maintains glucose homeostasis
-
Scheuner, D. et al. Control of mRNA translation preserves endoplasmic reticulum function in β cells and maintains glucose homeostasis. Nature Med. 11, 757-764 (2005).
-
(2005)
Nature Med
, vol.11
, pp. 757-764
-
-
Scheuner, D.1
-
114
-
-
33747786334
-
Loss of the mouse ortholog of the Shwachman-Diamond syndrome gene (Sbds) results in early embryonic lethality
-
Zhang, S., Shi, M., Hui, C. C. & Rommens, J. M. Loss of the mouse ortholog of the Shwachman-Diamond syndrome gene (Sbds) results in early embryonic lethality. Mol. Cell. Biol. 26, 6656-6663 (2006).
-
(2006)
Mol. Cell. Biol
, vol.26
, pp. 6656-6663
-
-
Zhang, S.1
Shi, M.2
Hui, C.C.3
Rommens, J.M.4
-
115
-
-
33645282549
-
Erythropoiesis in the Rps19 disrupted mouse: Analysis of erythropoietin response and biochemical markers for Diamond-Blackfan anemia
-
Matsson, H. et al. Erythropoiesis in the Rps19 disrupted mouse: analysis of erythropoietin response and biochemical markers for Diamond-Blackfan anemia. Blood Cells Mol. Dis. 36, 259-264 (2006).
-
(2006)
Blood Cells Mol. Dis
, vol.36
, pp. 259-264
-
-
Matsson, H.1
-
116
-
-
0037206947
-
Targeted disruption of Dkc1, the gene mutated in X-linked dyskeratosis congenita, causes embryonic lethality in mice
-
He, J. et al. Targeted disruption of Dkc1, the gene mutated in X-linked dyskeratosis congenita, causes embryonic lethality in mice. Oncogene 21, 7740-7744 (2002).
-
(2002)
Oncogene
, vol.21
, pp. 7740-7744
-
-
He, J.1
-
117
-
-
3442897334
-
Leu(UUR) genes
-
Leu(UUR) genes. Pediatrics 114, 443-450 (2004).
-
(2004)
Pediatrics
, vol.114
, pp. 443-450
-
-
Uusimaa, J.1
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