Huntington's disease: mechanisms of pathogenesis and therapeutic strategies
M Jimenez-Sanchez, F Licitra… - Cold Spring …, 2017 - perspectivesinmedicine.cshlp.org
Huntington's disease is a late-onset neurodegenerative disease caused by a CAG
trinucleotide repeat in the gene encoding the huntingtin protein. Despite its well-defined …
trinucleotide repeat in the gene encoding the huntingtin protein. Despite its well-defined …
Molecular mechanisms of Dicer: endonuclease and enzymatic activity
MS Song, JJ Rossi - Biochemical journal, 2017 - portlandpress.com
The enzyme Dicer is best known for its role as a riboendonuclease in the small RNA
pathway. In this canonical role, Dicer is a critical regulator of the biogenesis of microRNA …
pathway. In this canonical role, Dicer is a critical regulator of the biogenesis of microRNA …
DNA methylation and human disease
KD Robertson - Nature Reviews Genetics, 2005 - nature.com
DNA methylation is a crucial epigenetic modification of the genome that is involved in
regulating many cellular processes. These include embryonic development, transcription …
regulating many cellular processes. These include embryonic development, transcription …
[HTML][HTML] Multimeric G-quadruplexes: A review on their biological roles and targeting
In human cells, nucleic acids adopt several non-canonical structures that regulate key
cellular processes. Among them, G-quadruplexes (G4s) are stable structures that form in …
cellular processes. Among them, G-quadruplexes (G4s) are stable structures that form in …
Expandable DNA repeats and human disease
SM Mirkin - Nature, 2007 - nature.com
Nearly 30 hereditary disorders in humans result from an increase in the number of copies of
simple repeats in genomic DNA. These DNA repeats seem to be predisposed to such …
simple repeats in genomic DNA. These DNA repeats seem to be predisposed to such …
Epigenetic regulations in neuropsychiatric disorders
Precise genetic and epigenetic spatiotemporal regulation of gene expression is critical for
proper brain development, function and circuitry formation in the mammalian central nervous …
proper brain development, function and circuitry formation in the mammalian central nervous …
[HTML][HTML] G-quadruplexes: Emerging roles in neurodegenerative diseases and the non-coding transcriptome
G-rich sequences in DNA and RNA have a propensity to fold into stable secondary
structures termed G-quadruplexes. G-quadruplex forming sequences are widespread …
structures termed G-quadruplexes. G-quadruplex forming sequences are widespread …
Promoter-bound trinucleotide repeat mRNA drives epigenetic silencing in fragile X syndrome
Epigenetic gene silencing is seen in several repeat-expansion diseases. In fragile X
syndrome, the most common genetic form of mental retardation, a CGG trinucleotide–repeat …
syndrome, the most common genetic form of mental retardation, a CGG trinucleotide–repeat …
Sequestration of DROSHA and DGCR8 by expanded CGG RNA repeats alters microRNA processing in fragile X-associated tremor/ataxia syndrome
Fragile X-associated tremor/ataxia syndrome (FXTAS) is an inherited neurodegenerative
disorder caused by the expansion of 55–200 CGG repeats in the 5′ UTR of FMR1. These …
disorder caused by the expansion of 55–200 CGG repeats in the 5′ UTR of FMR1. These …
Epigenetics and human disease
HY Zoghbi, AL Beaudet - Cold Spring Harbor …, 2016 - cshperspectives.cshlp.org
Genetic causes for human disorders are being discovered at an unprecedented pace. A
growing subclass of disease-causing mutations involves changes in the epigenome or in the …
growing subclass of disease-causing mutations involves changes in the epigenome or in the …