LE WE PMID CA
Genetics (Trinucleotide repeat)2810Genetik (Trinukleotid Repeat)

Ataxia (spinocerebellar)

ATXN1

ATXN3

Autophagy

Dentatorubral pallidoluysian atrophy

DNA (repetitive)

FRA12A mental retardation

Fragile X syndrome

FRAXE mental retardation

Friedreich ataxia

Genetics (Trinucleotide deletion)

Genetics (Trinucleotide repeat)

Huntington s disease

Kennedy s disease

Machado Joseph s disease

Myotonic dystrophy

Nervous system (Neurodegeneration)

Protein (Aggregation)

Protein (folding)

Rapamycin

Receptor (Androgen)

RNA (based diseases)

RNA (non coding)

RNA (RNA foci)

2008  
1
Features of trinucleotide repeat instability in vivo.
[18166978] Cell Res 18(1): 198-213 (2008)
2008  
2
The biological effects of simple tandem repeats: lessons from the repeat expansion diseases.
[18593815] Genome Res 18(7): 1011-9 (2008)
1999  
3
CAG repeat instability, cryptic sequence variation and pathogeneticity: evidence from different loci.
[10434311] Philos Trans R Soc Lond B Biol Sci 354(1386): 1089-94 (1999)
1999  
4
CAG-polyglutamine-repeat mutations: independence from gene context.
[10434310] Philos Trans R Soc Lond B Biol Sci 354(1386): 1083-8 (1999)
1999  
5
Microsatellite and trinucleotide-repeat evolution: evidence for mutational bias and different rates of evolution in different lineages.
[10434312] Philos Trans R Soc Lond B Biol Sci 354(1386): 1095-9 (1999)
1998  
6
Brain glyceraldehyde-3-phosphate dehydrogenase activity in human trinucleotide repeat disorders.
[9779656] Arch Neurol 55(10): 1299-304 (1998)
2004  
7
Trinucleotide repeats and neurodegenerative disease.
[15329351] Brain 127(Pt 11): 2385-405 (2004)
2000  
8
Fourteen and counting: unraveling trinucleotide repeat diseases.
[10767314] Hum Mol Genet 9(6): 909-16 (2000)
2010  
9
RNA-mediated neurodegeneration in repeat expansion disorders.
[20373340] Ann Neurol 67(3): 291-300 (2010)
2009  
10
Rapamycin and mTOR-independent autophagy inducers ameliorate toxicity of polyglutamine-expanded huntingtin and related proteinopathies.
[18636076] Cell Death Differ 16(1): 46-56 (2009)
2009  
11
Animal models of polyglutamine diseases and therapeutic approaches.
[18957429] J Biol Chem 284(12): 7431-5 (2009)
2009  
12
Pathogenic mechanisms of a polyglutamine-mediated neurodegenerative disease, spinocerebellar ataxia type 1.
[18957430] J Biol Chem 284(12): 7425-9 (2009)
2009  
13
Chromatin remodeling in the noncoding repeat expansion diseases.
[18957431] J Biol Chem 284(12): 7413-7 (2009)
2009  
14
Mutation spectra in fragile X syndrome induced by deletions of CGG*CCG repeats.
[18957433] J Biol Chem 284(12): 7407-11 (2009)
2010  
15
TRPing up the genome: Tandem repeat polymorphisms as dynamic sources of genetic variability in health and disease.
[21034672] Discov Med 10(53): 314-21 (2010)
2009  
16
The pathogenic mechanisms of polyglutamine diseases and current therapeutic strategies.
[19650870] J Neurochem 110(6): 1737-65 (2009)
1999  
17
Pathogenesis of inclusion bodies in (CAG)n/Qn-expansion diseases with special reference to the role of tissue transglutaminase and to selective vulnerability.
[10037459] J Neurochem 72(3): 889-99 (1999)
1999  
18
2005  
19
Polyglutamine diseases and transport problems: deadly traffic jams on neuronal highways.
[15642849] Arch Neurol 62(1): 46-51 (2005)
2003  
20
Pathogenesis of polyglutamine disorders: aggregation revisited.
[14504263] Hum Mol Genet 12 Spec No 2(-): R173-86 (2003)
1997  
21
Rethinking genotype and phenotype correlations in polyglutamine expansion disorders.
[9328463] Hum Mol Genet 6(12): 2005-10 (1997)
1999  
22
Intracellular inclusions, pathological markers in diseases caused by expanded polyglutamine tracts?
[10227391] J Med Genet 36(4): 265-70 (1999)
2010  
23
Histone acetylation, acetyltransferases, and ataxia--alteration of histone acetylation and chromatin dynamics is implicated in the pathogenesis of polyglutamine-expansion disorders.
[20621284] Adv Protein Chem Struct Biol 79(-): 165-203 (2010)
2004  
24
2011  
25
CAG repeat RNA as an auxiliary toxic agent in polyglutamine disorders.
[21593608] RNA Biol 8(4): 565-71 (2011)
2011  
26
Machado-Joseph Disease: from first descriptions to new perspectives.
[21635785] Orphanet J Rare Dis 6(-): 35 (2011)
2011  
27
Cellular toxicity of expanded RNA repeats: focus on RNA foci.
[21729883] Hum Mol Genet 20(19): 3811-21 (2011)
2010  
28
Partners in crime: bidirectional transcription in unstable microsatellite disease.
[20368264] Hum Mol Genet 19(R1): R77-82 (2010)
2007  
29
Polyglutamine diseases: emerging concepts in pathogenesis and therapy.
[17911155] Hum Mol Genet 16 Spec No. 2(-): R115-23 (2007)
2009  
30
Post-translational modifications of expanded polyglutamine proteins: impact on neurotoxicity.
[19297400] Hum Mol Genet 18(R1): R40-7 (2009)
2008  
31
Androgen receptor and Kennedy disease/spinal bulbar muscular atrophy.
[18321505] Horm Behav 53(5): 729-40 (2008)
2009  
32
Pathogenic RNAs in microsatellite expansion disease.
[19647781] Neurosci Lett 466(2): 99-102 (2009)
2010  
33
Epigenetic changes and non-coding expanded repeats.
[20171282] Neurobiol Dis 39(1): 21-7 (2010)
2005  
34
Mouse models of Machado-Joseph disease and other polyglutamine spinocerebellar ataxias.
[16389311] NeuroRx 2(3): 480-3 (2005)
2010  
35
Polyglutamine diseases: where does toxicity come from? what is toxicity? where are we going?
[20410236] J Mol Cell Biol 2(4): 180-91 (2010)
2010  
36
Polyglutamine toxicity in non-neuronal cells.
[20231860] Cell Res 20(4): 400-7 (2010)
2009  
37
Multi-domain misfolding: understanding the aggregation pathway of polyglutamine proteins.
[19589877] Protein Eng Des Sel 22(8): 447-51 (2009)
2010  
38
Modifiers and mechanisms of multi-system polyglutamine neurodegenerative disorders: lessons from fly models.
[21273704] J Genet 89(4): 497-526 (2010)

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  • Genetik (Trinukleotid Repeat)

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