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 …
Decreased proteolysis caused by protein aggregates, inclusion bodies, plaques, lipofuscin, ceroid, and 'aggresomes' during oxidative stress, aging, and disease
T Grune, T Jung, K Merker, KJA Davies - The international journal of …, 2004 - Elsevier
Protein aggregation seems to be a common feature of several neurodegenerative diseases
and to some extent of physiological aging. It is not always clear why protein aggregation …
and to some extent of physiological aging. It is not always clear why protein aggregation …
Reversal of mutant myocilin non-secretion and cell killing: implications for glaucoma
Y Liu, D Vollrath - Human molecular genetics, 2004 - academic.oup.com
Glaucoma is a progressive blinding disease characterized by gradual loss of vision due to
optic neuropathy and retinal ganglion cell death. Increased intraocular pressure is a …
optic neuropathy and retinal ganglion cell death. Increased intraocular pressure is a …
A mutant ataxin-3 putative-cleavage fragment in brains of Machado-Joseph disease patients and transgenic mice is cytotoxic above a critical concentration
D Goti, SM Katzen, J Mez, N Kurtis, J Kiluk… - Journal of …, 2004 - Soc Neuroscience
Machado-Joseph disease (MJD) is an inherited neurodegenerative disorder caused by
ataxin-3 with a polyglutamine expansion. It is proposed that a toxic cleavage fragment of …
ataxin-3 with a polyglutamine expansion. It is proposed that a toxic cleavage fragment of …
Trinucleotide repeats and neurodegenerative disease
CM Everett, NW Wood - Brain, 2004 - academic.oup.com
Major insights have been attained into the molecular pathology of the trinucleotide repeat
neurodegenerative diseases over the past decade. Genetic definition has allowed …
neurodegenerative diseases over the past decade. Genetic definition has allowed …
Poly-ubiquitin binding by the polyglutamine disease protein ataxin-3 links its normal function to protein surveillance pathways
Y Chai, SS Berke, RE Cohen, HL Paulson - Journal of Biological Chemistry, 2004 - ASBMB
In at least nine inherited diseases polyglutamine expansions cause neurodegeneration
associated with protein misfolding and the formation of ubiquitin-conjugated aggregates …
associated with protein misfolding and the formation of ubiquitin-conjugated aggregates …
Caspase‐mediated proteolysis of the polyglutamine disease protein ataxin‐3
SJS Berke, FAF Schmied, ER Brunt… - Journal of …, 2004 - Wiley Online Library
Spinocerebellar ataxia type‐3, also known as Machado‐Joseph Disease, is one of many
inherited neurodegenerative disorders caused by polyglutamine‐encoding CAG repeat …
inherited neurodegenerative disorders caused by polyglutamine‐encoding CAG repeat …
Mapping of the SCA23 locus involved in autosomal dominant cerebellar ataxia to chromosome region 20p13-12.3
DS Verbeek, BP Van De Warrenburg, P Wesseling… - Brain, 2004 - academic.oup.com
We report upon a Dutch autosomal dominant cerebellar ataxia (ADCA) family, clinically
characterized by a late-onset (> 40 years), slowly progressive, isolated spinocerebellar …
characterized by a late-onset (> 40 years), slowly progressive, isolated spinocerebellar …
Accumulation of aberrant ubiquitin induces aggregate formation and cell death in polyglutamine diseases
R de Pril, DF Fischer… - Human molecular …, 2004 - academic.oup.com
Polyglutamine diseases are characterized by neuronal intranuclear inclusions (NIIs) of
expanded polyglutamine proteins, indicating the failure of protein degradation. UBB+ 1, an …
expanded polyglutamine proteins, indicating the failure of protein degradation. UBB+ 1, an …
The polyglutamine tract of androgen receptor: from functions to dysfunctions in motor neurons
A Poletti - Frontiers in neuroendocrinology, 2004 - Elsevier
The polyglutamine tract of androgen receptor: from functions to dysfunctions in motor neurons -
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