Trinucleotide repeat disorders
The discovery that expansion of unstable repeats can cause a variety of neurological
disorders has changed the landscape of disease-oriented research for several forms of …
disorders has changed the landscape of disease-oriented research for several forms of …
Clinical features, neurogenetics and neuropathology of the polyglutamine spinocerebellar ataxias type 1, 2, 3, 6 and 7
The spinocerebellar ataxias type 1 (SCA1), 2 (SCA2), 3 (SCA3), 6 (SCA6) and 7 (SCA7) are
genetically defined autosomal dominantly inherited progressive cerebellar ataxias (ADCAs) …
genetically defined autosomal dominantly inherited progressive cerebellar ataxias (ADCAs) …
Molecular pathogenesis of spinocerebellar ataxias
AM Duenas, R Goold, P Giunti - Brain, 2006 - academic.oup.com
The autosomal dominant spinocerebellar ataxias (SCAs) are a group of neurodegenerative
diseases, clinically and genetically heterogeneous, characterized by loss of balance and …
diseases, clinically and genetically heterogeneous, characterized by loss of balance and …
RORα-mediated Purkinje cell development determines disease severity in adult SCA1 mice
Summary Spinocerebellar ataxia type 1 (SCA1) is one of nine inherited, typically adult onset,
polyglutamine neurodegenerative diseases. To examine whether development impacts …
polyglutamine neurodegenerative diseases. To examine whether development impacts …
The Capicua repressor–a general sensor of RTK signaling in development and disease
G Jiménez, SY Shvartsman… - Journal of cell …, 2012 - journals.biologists.com
Receptor tyrosine kinase (RTK) signaling pathways control multiple cellular decisions in
metazoans, often by regulating the expression of downstream genes. In Drosophila …
metazoans, often by regulating the expression of downstream genes. In Drosophila …
The pathogenic mechanisms of polyglutamine diseases and current therapeutic strategies
Expansion of CAG trinucleotide repeat within the coding region of several genes results in
the production of proteins with expanded polyglutamine (PolyQ) stretch. The expression of …
the production of proteins with expanded polyglutamine (PolyQ) stretch. The expression of …
Consensus paper: pathological mechanisms underlying neurodegeneration in spinocerebellar ataxias
Intensive scientific research devoted in the recent years to understand the molecular
mechanisms or neurodegeneration in spinocerebellar ataxias (SCAs) are identifying new …
mechanisms or neurodegeneration in spinocerebellar ataxias (SCAs) are identifying new …
Drosophila in the study of neurodegenerative disease
As populations benefit from increasing lifespans, neurodegenerative diseases have
emerged as a critical health concern. How can the fruit fly, Drosophila melanogaster …
emerged as a critical health concern. How can the fruit fly, Drosophila melanogaster …
[HTML][HTML] CHIP protects from the neurotoxicity of expanded and wild-type ataxin-1 and promotes their ubiquitination and degradation
I Al-Ramahi, YC Lam, HK Chen, B de Gouyon… - Journal of Biological …, 2006 - Elsevier
CHIP (C terminus of Hsc-70 interacting protein) is an E3 ligase that links the protein folding
machinery with the ubiquitin-proteasome system and has been implicated in disorders …
machinery with the ubiquitin-proteasome system and has been implicated in disorders …
The promise and perils of HDAC inhibitors in neurodegeneration
Histone deacetylases (HDAC s) represent emerging therapeutic targets in the context of
neurodegeneration. Indeed, pharmacologic inhibition of HDAC s activity in the nervous …
neurodegeneration. Indeed, pharmacologic inhibition of HDAC s activity in the nervous …