Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis
L Schöls, P Bauer, T Schmidt, T Schulte… - The Lancet …, 2004 - thelancet.com
Autosomal dominant cerebellar ataxias are hereditary neurodegenerative disorders that are
known as spinocerebellar ataxias (SCA) in genetic nomenclature. In the pregenomic era …
known as spinocerebellar ataxias (SCA) in genetic nomenclature. In the pregenomic era …
The hunt for huntingtin function: interaction partners tell many different stories
P Harjes, EE Wanker - Trends in biochemical sciences, 2003 - cell.com
Huntington's disease (HD) is a neurodegenerative disorder caused by an abnormally
elongated polyglutamine (polyQ) tract in the large protein huntingtin (htt). Currently, both the …
elongated polyglutamine (polyQ) tract in the large protein huntingtin (htt). Currently, both the …
Inhibition of mTOR induces autophagy and reduces toxicity of polyglutamine expansions in fly and mouse models of Huntington disease
Huntington disease is one of nine inherited neurodegenerative disorders caused by a
polyglutamine tract expansion. Expanded polyglutamine proteins accumulate abnormally in …
polyglutamine tract expansion. Expanded polyglutamine proteins accumulate abnormally in …
Huntingtin–protein interactions and the pathogenesis of Huntington's disease
SH Li, XJ Li - TRENDS in Genetics, 2004 - cell.com
At least nine inherited neurodegenerative diseases share a polyglutamine expansion in
their respective disease proteins. These diseases show distinct neuropathological changes …
their respective disease proteins. These diseases show distinct neuropathological changes …
Toward understanding Machado–Joseph disease
M do Carmo Costa, HL Paulson - Progress in neurobiology, 2012 - Elsevier
Machado–Joseph disease (MJD), also known as spinocerebellar ataxia type 3 (SCA3), is
the most common inherited spinocerebellar ataxia and one of many polyglutamine …
the most common inherited spinocerebellar ataxia and one of many polyglutamine …
Transcriptional abnormalities in Huntington disease
KL Sugars, DC Rubinsztein - TRENDS in Genetics, 2003 - cell.com
Huntington disease (HD) is caused by a CAG repeat expansion that is translated into an
abnormally long polyglutamine (polyQ) tract in the huntingtin protein. The precise …
abnormally long polyglutamine (polyQ) tract in the huntingtin protein. The precise …
Eukaryotic proteasomes cannot digest polyglutamine sequences and release them during degradation of polyglutamine-containing proteins
Long glutamine sequences (polyQ) occur in many cell proteins, and several
neurodegenerative diseases result from expansion of these sequences. PolyQ-containing …
neurodegenerative diseases result from expansion of these sequences. PolyQ-containing …
Identification of a family of mastermind-like transcriptional coactivators for mammalian notch receptors
L Wu, T Sun, K Kobayashi, P Gao… - Molecular and cellular …, 2002 - Taylor & Francis
The molecular mechanisms by which Notch receptors induce diverse biological responses
are not fully understood. We recently cloned a mammalian homologue of the Mastermind …
are not fully understood. We recently cloned a mammalian homologue of the Mastermind …
Knockdown of transactive response DNA‐binding protein (TDP‐43) downregulates histone deacetylase 6
TDP‐43 is an RNA/DNA‐binding protein implicated in transcriptional repression and mRNA
processing. Inclusions of TDP‐43 are hallmarks of frontotemporal dementia and …
processing. Inclusions of TDP‐43 are hallmarks of frontotemporal dementia and …
The first 17 amino acids of Huntingtin modulate its sub-cellular localization, aggregation and effects on calcium homeostasis
E Rockabrand, N Slepko, A Pantalone… - Human molecular …, 2007 - academic.oup.com
A truncated form of the Huntington's disease (HD) protein that contains the polyglutamine
repeat, Httex1p, causes HD-like phenotypes in multiple model organisms. Molecular …
repeat, Httex1p, causes HD-like phenotypes in multiple model organisms. Molecular …