Cellular functions of the protein kinase ATM and their relevance to human disease
The protein kinase ataxia telangiectasia mutated (ATM) is a master regulator of double-
strand DNA break (DSB) signalling and stress responses. For three decades, ATM has been …
strand DNA break (DSB) signalling and stress responses. For three decades, ATM has been …
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 …
Brain pathology of spinocerebellar ataxias
K Seidel, S Siswanto, ERP Brunt, W Den Dunnen… - Acta …, 2012 - Springer
The autosomal dominant cerebellar ataxias (ADCAs) represent a heterogeneous group of
neurodegenerative diseases with progressive ataxia and cerebellar degeneration. The …
neurodegenerative diseases with progressive ataxia and cerebellar degeneration. The …
Glutamine repeats and neurodegeneration
A growing number of neurodegenerative diseases have been found to result from the
expansion of an unstable trinucleotide repeat. Over the past 6 years, researchers have …
expansion of an unstable trinucleotide repeat. Over the past 6 years, researchers have …
Clinical features, neurogenetics and neuropathology of the polyglutamine spinocerebellar ataxias type 1, 2, 3, 6 and 7
U Rüb, L Schöls, H Paulson, G Auburger… - Progress in …, 2013 - Elsevier
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) …
Nuclear and neuropil aggregates in Huntington's disease: relationship to neuropathology
CA Gutekunst, SH Li, H Yi, JS Mulroy… - Journal of …, 1999 - Soc Neuroscience
The data we report in this study concern the types, location, numbers, forms, and
composition of microscopic huntingtin aggregates in brain tissues from humans with different …
composition of microscopic huntingtin aggregates in brain tissues from humans with different …
Self-assembly of polyglutamine-containing huntingtin fragments into amyloid-like fibrils: implications for Huntington's disease pathology
E Scherzinger, A Sittler, K Schweiger… - Proceedings of the …, 1999 - National Acad Sciences
Huntington's disease is a progressive neurodegenerative disorder caused by a
polyglutamine [poly (Q)] repeat expansion in the first exon of the huntingtin protein …
polyglutamine [poly (Q)] repeat expansion in the first exon of the huntingtin protein …
14-3-3 proteins in the nervous system
D Berg, C Holzmann, O Riess - Nature Reviews Neuroscience, 2003 - nature.com
3-3 proteins are abundantly expressed in the brain and have been detected in the
cerebrospinal fluid of patients with different neurological disorders. Although the function of …
cerebrospinal fluid of patients with different neurological disorders. Although the function of …
Polyglutamine-expanded human huntingtin transgenes induce degeneration of Drosophila photoreceptor neurons
Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder. Disease
alleles contain a trinucleotide repeat expansion of variable length, which encodes …
alleles contain a trinucleotide repeat expansion of variable length, which encodes …
Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers
CM Greco, RJ Hagerman, F Tassone, AE Chudley… - Brain, 2002 - academic.oup.com
A neurological syndrome involving progressive action tremor with ataxia, cognitive decline
and generalized brain atrophy has been described recently in some adult males with pre …
and generalized brain atrophy has been described recently in some adult males with pre …